Down Syndrome

50 %
50 %
Information about Down Syndrome

Published on August 19, 2008

Author: internist69

Source: slideshare.net

Description

discussion of common medical problems associated with downs' syndrome

rsm, md

Dr. Ronald Sanchez – Magbitang EDUCATIONAL ATTAINMENT NEHS UST – B.S. Biology (Pre-Med) SLU – Doctor of Medicine (“Meritus”) TRAININGS Dr. PJGMRMC – Internal Medicine Children's Medical Center – Hematology RITM – 1 st In-Country Training in HIV AIDS PCP Symposium and Conventions PHA Conventions PRESENT POSITION Chief of Hospital Gov. Eduardo L. Joson Memorial Hospital Daan Sarile, Cabanatuan City

EDUCATIONAL ATTAINMENT

NEHS

UST – B.S. Biology (Pre-Med)

SLU – Doctor of Medicine

(“Meritus”)

TRAININGS

Dr. PJGMRMC – Internal Medicine

Children's Medical Center – Hematology

RITM – 1 st In-Country Training in HIV AIDS

PCP Symposium and Conventions

PHA Conventions

PRESENT POSITION

Chief of Hospital

Gov. Eduardo L. Joson Memorial Hospital

Daan Sarile, Cabanatuan City

DOWN SYNDROME

 

HISTORY English physician John Langdon Down first characterized Down syndrome as a distinct form of mental retardation in 1862 , and in a more widely published report in 1866 entitled "Observations on an ethnic classification of idiots". Due to his perception that children with Down syndrome shared physical facial similarities ( epicanthal folds ) with those of Blumenbach's Mongolian race , Down used terms such as mongolism and Mongolian idiocy . Idiocy was a medical term used at that time to refer to a severe degree of intellectual impairment. Down wrote that mongolism represented "retrogression," the appearance of Mongoloid traits in the children of allegedly more advanced Caucasian parents.

HISTORY

English physician John Langdon Down first characterized Down syndrome as a distinct form of mental retardation in 1862 , and in a more widely published report in 1866 entitled "Observations on an ethnic classification of idiots".

Due to his perception that children with Down syndrome shared physical facial similarities ( epicanthal folds ) with those of Blumenbach's Mongolian race , Down used terms such as mongolism and Mongolian idiocy .

Idiocy was a medical term used at that time to refer to a severe degree of intellectual impairment. Down wrote that mongolism represented "retrogression," the appearance of Mongoloid traits in the children of allegedly more advanced Caucasian parents.

By the 20th century , "Mongolian idiocy" had become the most recognizable form of mental retardation. Most individuals with Down syndrome were institutionalized , few of the associated medical problems were treated, and most died in infancy or early adult life. Until the middle of the 20th century , the cause of Down syndrome remained unknown . However, the presence in all races, the association with older maternal age, and the rarity of recurrence had been noticed. Standard medical texts assumed it was caused by a combination of inheritable factors which had not been identified. Other theories focused on injuries sustained during birth . With the discovery of karyotype techniques in the 1950s , it became possible to identify abnormalities of chromosomal number or shape. In 1959 , Professor Jérôme Lejeune discovered that Down syndrome resulted from an extra chromosome. The extra chromosome was subsequently labeled as the 21st, and the condition as trisomy 21 .

By the 20th century , "Mongolian idiocy" had become the most recognizable form of mental retardation. Most individuals with Down syndrome were institutionalized , few of the associated medical problems were treated, and most died in infancy or early adult life.

Until the middle of the 20th century , the cause of Down syndrome remained unknown . However, the presence in all races, the association with older maternal age, and the rarity of recurrence had been noticed. Standard medical texts assumed it was caused by a combination of inheritable factors which had not been identified. Other theories focused on injuries sustained during birth .

With the discovery of karyotype techniques in the 1950s , it became possible to identify abnormalities of chromosomal number or shape. In 1959 , Professor Jérôme Lejeune discovered that Down syndrome resulted from an extra chromosome. The extra chromosome was subsequently labeled as the 21st, and the condition as trisomy 21 .

In 1961 , nineteen geneticists wrote to the editor of The Lancet suggesting that Mongolian idiocy had "misleading connotations," had become "an embarrassing term," and should be changed. The Lancet supported Down's Syndrome . The World Health Organization (WHO) officially dropped references to mongolism in 1965 after a request by the Mongolian delegate. In 1975 , the United States National Institutes of Health convened a conference to standardize the nomenclature of malformations . They recommended eliminating the possessive form: "The possessive use of an eponym should be discontinued, since the author neither had nor owned the disorder." Although both the possessive and non-possessive forms are used in the general population, Down syndrome is the accepted term among professionals in the USA , Canada and other countries; Down's syndrome is still used in the United Kingdom and other areas.

In 1961 , nineteen geneticists wrote to the editor of The Lancet suggesting that Mongolian idiocy had "misleading connotations," had become "an embarrassing term," and should be changed. The Lancet supported Down's Syndrome . The World Health Organization (WHO) officially dropped references to mongolism in 1965 after a request by the Mongolian delegate.

In 1975 , the United States National Institutes of Health convened a conference to standardize the nomenclature of malformations . They recommended eliminating the possessive form: "The possessive use of an eponym should be discontinued, since the author neither had nor owned the disorder." Although both the possessive and non-possessive forms are used in the general population, Down syndrome is the accepted term among professionals in the USA , Canada and other countries; Down's syndrome is still used in the United Kingdom and other areas.

 

 

DOWN SYNDROME

DOWN SYNDROME Down syndrome or trisomy 21 is a genetic disorder caused by the presence of all or part of an extra 21st chromosome It is named after John Langdon Down , the British doctor who first described it in 1866 The condition is characterized by a combination of major and minor differences in body structure Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance Down syndrome is usually identified at birth.

Down syndrome or trisomy 21 is a genetic disorder caused by the presence of all or part of an extra 21st chromosome

It is named after John Langdon Down , the British doctor who first described it in 1866

The condition is characterized by a combination of major and minor differences in body structure

Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance

Down syndrome is usually identified at birth.

Individuals with Down syndrome can have a lower than average cognitive ability, (no crap) often ranging from mild to moderate mental retardation Developmental disabilities often manifest as a tendency toward concrete thinking or naïveté . A small number have severe to profound mental retardation The incidence of Down syndrome is estimated at 1 per 800 to 1 per 1,000 births.

Individuals with Down syndrome can have a lower than average cognitive ability, (no crap) often ranging from mild to moderate mental retardation

Developmental disabilities often manifest as a tendency toward concrete thinking or naïveté . A small number have severe to profound mental retardation

The incidence of Down syndrome is estimated at 1 per 800 to 1 per 1,000 births.

Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 21st chromosome , either in whole ( trisomy 21) or part (such as due to translocations ) The effects of the extra copy vary greatly among individuals, depending on the extent of the extra copy, genetic background, environmental factors, and random chance. Karyotype for trisomy Down syndrome. Notice the three copies of chromosome 21.

Down syndrome is a chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 21st chromosome , either in whole ( trisomy 21) or part (such as due to translocations )

The effects of the extra copy vary greatly among individuals, depending on the extent of the extra copy, genetic background, environmental factors, and random chance.

The extra chromosomal material can come about in several distinct ways: A normal human karyotype is designated as 46,XX or 46,XY , indicating 46 chromosomes with an XX arrangement for females and 46 chromosomes with an XY arrangement for males SEX chromosomes Trisomy 21 (3 copies of chromosone 21)

The extra chromosomal material can come about in several distinct ways:

A normal human karyotype is designated as 46,XX or 46,XY , indicating 46 chromosomes with an XX arrangement for females and 46 chromosomes with an XY arrangement for males

TRISOMY 21 Trisomy 21 (47,XX,+21) is caused by a meiotic nondisjunction event. With nondisjunction, a gamete ( i.e. , a sperm or egg cell) is produced with an extra copy of chromosome 21; the gamete thus has 24 chromosomes. When combined with a normal gamete from the other parent, the embryo now has 47 chromosomes, with three copies of chromosome 21 Trisomy 21 is the cause of approximately 95% of observed Down syndromes , with 88% coming from nondisjunction in the maternal gamete and 8% coming from nondisjunction in the paternal gamete.

TRISOMY 21

Trisomy 21 (47,XX,+21) is caused by a meiotic nondisjunction event. With nondisjunction, a gamete ( i.e. , a sperm or egg cell) is produced with an extra copy of chromosome 21; the gamete thus has 24 chromosomes. When combined with a normal gamete from the other parent, the embryo now has 47 chromosomes, with three copies of chromosome 21

Trisomy 21 is the cause of approximately 95% of observed Down syndromes , with 88% coming from nondisjunction in the maternal gamete and 8% coming from nondisjunction in the paternal gamete.

MOSAICISM Trisomy 21 is generally caused prior to conception, and all cells in the body are affected. However, when some of the cells in the body are normal and other cells have trisomy 21, it is called Mosaic Down syndrome (46,XX/47,XX,+21) This can occur in one of two ways: A nondisjunction event during an early cell division in a normal embryo leads to a fraction of the cells with trisomy 21 A Down syndrome embryo undergoes nondisjunction and some of the cells in the embryo revert back to the normal chromosomal arrangement There is considerable variability in the fraction of trisomy 21, both as a whole and among tissues. This is the cause of 1–2% of the observed Down syndromes.

MOSAICISM

Trisomy 21 is generally caused prior to conception, and all cells in the body are affected. However, when some of the cells in the body are normal and other cells have trisomy 21, it is called Mosaic Down syndrome (46,XX/47,XX,+21)

This can occur in one of two ways:

A nondisjunction event during an early cell division in a normal embryo leads to a fraction of the cells with trisomy 21

A Down syndrome embryo undergoes nondisjunction and some of the cells in the embryo revert back to the normal chromosomal arrangement

There is considerable variability in the fraction of trisomy 21, both as a whole and among tissues. This is the cause of 1–2% of the observed Down syndromes.

ROBERTSONIAN TRANSLOCATION The extra chromosome 21 material that causes Down syndrome may be due to a Robertsonian translocation . In this case, the long arm of chromosome 21 is attached to another chromosome, often chromosome 14 (45,XX, t(14;21q)) or itself (called an isochromosome , 45,XX, t(21q;21q)) Normal disjunctions leading to gametes have a significant chance of creating a gamete with an extra chromosome 21 Translocation Down syndrome is often referred to as familial Down syndrome It is the cause of 2-3% of observed cases of Down syndrome . It does not show the maternal age effect, and is just as likely to have come from fathers as mothers.

ROBERTSONIAN TRANSLOCATION

The extra chromosome 21 material that causes Down syndrome may be due to a Robertsonian translocation . In this case, the long arm of chromosome 21 is attached to another chromosome, often chromosome 14 (45,XX, t(14;21q)) or itself (called an isochromosome , 45,XX, t(21q;21q))

Normal disjunctions leading to gametes have a significant chance of creating a gamete with an extra chromosome 21

Translocation Down syndrome is often referred to as familial Down syndrome

It is the cause of 2-3% of observed cases of Down syndrome . It does not show the maternal age effect, and is just as likely to have come from fathers as mothers.

DUPLICATION OF PORTION OF CHROMOSOME 21 Rarely, a region of chromosome 21 will undergo a duplication event This will lead to extra copies of some, but not all, of the genes on chromosome 21 (46,XX, dup(21q)) If the duplicated region has genes that are responsible for Down syndrome physical and mental characteristics, such individuals will show those characteristics This cause is very rare and no rate estimates are available.

DUPLICATION OF PORTION OF CHROMOSOME 21

Rarely, a region of chromosome 21 will undergo a duplication event

This will lead to extra copies of some, but not all, of the genes on chromosome 21 (46,XX, dup(21q))

If the duplicated region has genes that are responsible for Down syndrome physical and mental characteristics, such individuals will show those characteristics

This cause is very rare and no rate estimates are available.

The incidence of Down syndrome is estimated at 1 per 800 to 1 per 1,000 births In 2006 , the Center for Disease Control estimated the rate as 1 per 733 live births in the United States (5429 new cases per year) Approximately 95% of these are trisomy 21 Down syndrome occurs in all ethnic groups and among all economic classes. Graph showing increased chance of Down syndrome compared to maternal age

The incidence of Down syndrome is estimated at 1 per 800 to 1 per 1,000 births

In 2006 , the Center for Disease Control estimated the rate as 1 per 733 live births in the United States (5429 new cases per year)

Approximately 95% of these are trisomy 21

Down syndrome occurs in all ethnic groups and among all economic classes.

Relationship of Down Syndrome Incidence to mothers age Mother's Age Incidence of Down Syndrome Under 30 < 1 in 1,000 30 - 34 1 in 900 35 1 in 400 36 1 in 300 37 1 in 230 38 1 in 180 39 1 in 135 40 1 in 105 42 1 in 60 44 1 in 35 46 1 in 20 48 1 in 16 49 1 in 12 Source: Hook, E.G., Lindsjo, A. Down Syndrome in Live Births by Single Year Maternal Age.

Relationship of Down Syndrome Incidence to mothers age

Mother's Age Incidence of Down Syndrome

Under 30 < 1 in 1,000

30 - 34 1 in 900

35 1 in 400

36 1 in 300

37 1 in 230

38 1 in 180

39 1 in 135

40 1 in 105

42 1 in 60

44 1 in 35

46 1 in 20

48 1 in 16

49 1 in 12

Source: Hook, E.G., Lindsjo, A. Down Syndrome in Live Births by Single Year Maternal Age.

Maternal age influences the risk of conceiving a baby with Down syndrome At maternal age 20 to 24 , the risk is 1/1490 At age 40 the risk is 1/60, and at age 49 the risk is 1/11 Although the risk increases with maternal age, 80% of children with Down syndrome are born to women under the age of 35 , reflecting the overall fertility of that age group Other than maternal age, no other risk factors are known. There does not appear to be a paternal age effect.

Maternal age influences the risk of conceiving a baby with Down syndrome

At maternal age 20 to 24 , the risk is 1/1490

At age 40 the risk is 1/60, and at age 49 the risk is 1/11

Although the risk increases with maternal age, 80% of children with Down syndrome are born to women under the age of 35 , reflecting the overall fertility of that age group

Other than maternal age, no other risk factors are known. There does not appear to be a paternal age effect.

 

Prenatal Screening Pregnant women can be screened for various complications in their pregnancy Many standard prenatal screens can discover Down syndrome Genetic counseling along with genetic testing , such as amniocentesis , chorionic villus sampling (CVS), or percutaneous umbilical blood sampling (PUBS) are usually offered to families who may have an increased chance of having a child with Down syndrome, or where normal prenatal exams indicate possible problems Genetic screens are often performed on pregnant women older than 30 or 35.

Pregnant women can be screened for various complications in their pregnancy

Many standard prenatal screens can discover Down syndrome

Genetic counseling along with genetic testing , such as amniocentesis , chorionic villus sampling (CVS), or percutaneous umbilical blood sampling (PUBS) are usually offered to families who may have an increased chance of having a child with Down syndrome, or where normal prenatal exams indicate possible problems

Genetic screens are often performed on pregnant women older than 30 or 35.

Amniocentesis and CVS are considered invasive procedures , in that they involve inserting instruments into the uterus, and therefore carry a small risk of causing fetal injury or miscarriage There are several common non-invasive screens that can indicate a fetus with Down syndrome. These are normally performed in the late first trimester or early second trimester Due to the nature of screens, each has a significant chance of a false positive , suggesting a fetus with Down syndrome when, in fact, the fetus does not have this genetic abnormality Screen positives must be verified before a Down syndrome diagnosis is made

Amniocentesis and CVS are considered invasive procedures , in that they involve inserting instruments into the uterus, and therefore carry a small risk of causing fetal injury or miscarriage

There are several common non-invasive screens that can indicate a fetus with Down syndrome. These are normally performed in the late first trimester or early second trimester

Due to the nature of screens, each has a significant chance of a false positive , suggesting a fetus with Down syndrome when, in fact, the fetus does not have this genetic abnormality

Screen positives must be verified before a Down syndrome diagnosis is made

Screening for: alpha feto protein; estriol, human chorionic gonadotropin; PAPPA; inhibin-alpha Uses ultrasound to measure Nuchal Translucency in addition to the freeBeta hCG and PAPPA (pregnancy-associate plasma protein A, Mendelian Inheritance in Man (OMIM) 176385 ). * NIH has confirmed that this first trimester test is more accurate than second trimester screening methods 5% 91% 10–13.5 Nuchal translucency/free beta/PAPPA screen This test measures the alpha feto protein , produced by the fetus, and free beta hCG , produced by the placenta. 2.8% 80% 13–22 AFP/free beta screen This test measures the maternal serum alpha feto protein (a fetal liver protein), estriol (a pregnancy hormone), human chorionic gonadotropin (hCG, a pregnancy hormone), and high inhibin -Alpha (INHA) 7.5% 79% 15–20 Quad screen This test measures the maternal serum alpha feto protein (a fetal liver protein), estriol (a pregnancy hormone), and human chorionic gonadotropin (hCG, a pregnancy hormone). 8.5% 75% 15–20 Triple screen Description False positive rate Detection rate When performed (weeks gestation) Screen Common first and second trimester Down syndrome screens

Even with the best non-invasive screens detection rate is 90%–95% rate of false positive is 2%–5% False positives can be caused by undetected multiple fetuses (very rare with the ultrasound tests), incorrect date of pregnancy, or normal variation in the proteins. Confirmation of screen positive is normally accomplished with amniocentesis This is an invasive procedure and involves taking amniotic fluid from the mother and identifying fetal cells The lab work can take several weeks but will detect over 99.8% of all numerical chromosomal problems with a very low false positive rate Ultrasound of fetus with Down syndrome and megacystis.

Even with the best non-invasive screens

detection rate is 90%–95%

rate of false positive is 2%–5%

False positives can be caused by undetected multiple fetuses (very rare with the ultrasound tests), incorrect date of pregnancy, or normal variation in the proteins.

Confirmation of screen positive is normally accomplished with amniocentesis

This is an invasive procedure and involves taking amniotic fluid from the mother and identifying fetal cells

The lab work can take several weeks but will detect over 99.8% of all numerical chromosomal problems with a very low false positive rate

Screening Strategies for Down's syndrome Procedure    Detection rate First trimester screening (10 to 14 weeks): Maternal age 32% Nuchal translucency measurement ( by ultrasound )   74% First trimester double test (PAPP-A, HCG)   63% First trimester combined test (nuchal translucency, PAPP-A, HCG) 86% Second trimester screening (15 to 19 weeks): Maternal age 32% Second trimester double test ( AFP , HCG)   60% Triple test ( AFP , HCG, uE3)   68% Quadruple test ( AFP , HCG, uE3, inhibin A)   79% Integrated test (first trimester: nuchal translucency, PAPP-A; second trimester: quadruple test)    95% Prenatal diagnosis:    Amniocentesis (15 weeks)   100% Chorionic villus sampling (11-14 weeks)    100% Data from United Kingdom: Gilbert etal ., British Medical Journal 2001; 323: 423 AFP = fetoprotein, HCG = human chorionic gonadotrophin, PAPP-A = pregnancy associated plasma protein A, uE3 = unconjugated oestriol. Termination (UK): Surgical dilatation, evacuation (11 to 13 weeks), Medical with mifepristone (14 weeks) Termination strategies and regulations differ from country to country.

Screening Strategies for Down's syndrome

Procedure    Detection rate

First trimester screening (10 to 14 weeks):

Maternal age 32%

Nuchal translucency measurement ( by ultrasound )   74%

First trimester double test (PAPP-A, HCG)   63%

First trimester combined test (nuchal translucency, PAPP-A, HCG) 86%

Second trimester screening (15 to 19 weeks):

Maternal age 32%

Second trimester double test ( AFP , HCG)   60%

Triple test ( AFP , HCG, uE3)   68%

Quadruple test ( AFP , HCG, uE3, inhibin A)   79%

Integrated test (first trimester: nuchal translucency, PAPP-A;

second trimester: quadruple test)    95%

Prenatal diagnosis:   

Amniocentesis (15 weeks)   100%

Chorionic villus sampling (11-14 weeks)    100%

Data from United Kingdom: Gilbert etal ., British Medical Journal 2001; 323: 423

AFP = fetoprotein, HCG = human chorionic gonadotrophin, PAPP-A = pregnancy associated plasma protein A, uE3 = unconjugated oestriol.

Termination (UK): Surgical dilatation, evacuation (11 to 13 weeks), Medical with mifepristone (14 weeks)

Termination strategies and regulations differ from country to country.

BASIC MEDICAL SURVEILLANCE ESSENTIALS FOR PEOPLE WITH DOWN'S SYNDROME. CARDIAC DISEASE. CONGENITAL AND ACQUIRED (One of a set of guidelines drawn up by the Down’s Syndrome Medical Interest Group)

1. Between 40 and 50% of babies with Down’s syndrome have congenital heart defects. Of these 30-40% have complete atrioventricular septal defects. Most AVSD can be successfully treated if the diagnosis is made and the baby referred for full corrective surgery before irreversible pulmonary vascular disease is established . 2. There must be a high level of clinical suspicion of congenital heart disease for all newborns with the syndrome 3. It is essential to establish the cardiac status of every child by age 6 weeks. 4. Clinical examination alone is insufficient to detect all of even the most serious abnormalities

1. Between 40 and 50% of babies with Down’s syndrome have congenital heart defects. Of these 30-40% have complete atrioventricular septal defects. Most AVSD can be successfully treated if the diagnosis is made and the baby referred for full corrective surgery before irreversible pulmonary vascular disease is established .

2. There must be a high level of clinical suspicion of congenital heart disease for all newborns with the syndrome

3. It is essential to establish the cardiac status of every child by age 6 weeks.

4. Clinical examination alone is insufficient to detect all of even the most serious abnormalities

5. It is very unlikely that a serious abnormality requiring early intervention (atrio ventricular septal defect ) will be missed if one of the following courses of action is taken: Either: Clinical examination plus echocardiogram in the newborn period, both carried out by an appropriate person (see below). or: Clinical examination plus electrocardiogram(ECG) and chest X-ray(CXR) for all newborns and again at age 6 weeks, followed by echocardiography only for those with abnormal findings. However, even if early investigations are reported as 'normal', if a child develops signs or symptoms of cardiac disease appropriate investigations must take place as structural problems may not have been evident at an earlier age.

5. It is very unlikely that a serious abnormality requiring early intervention (atrio ventricular septal defect ) will be missed if one of the following courses of action is taken:

Either: Clinical examination plus echocardiogram in the newborn period, both carried out by an appropriate person (see below).

or: Clinical examination plus electrocardiogram(ECG) and chest X-ray(CXR) for all newborns and again at age 6 weeks, followed by echocardiography only for those with abnormal findings.

However, even if early investigations are reported as 'normal', if a child develops signs or symptoms of cardiac disease appropriate investigations must take place as structural problems may not have been evident at an earlier age.

6. It is not always essential to refer newborn babies with the syndrome to a cardiologist. However, all clinical examinations should be by a doctor experienced in the care of newborns; CXR and ECG findings should be reviewed by an experienced paediatrician; echocardiograms should be carried out and reviewed by staff with appropriate paediatric experience in the field. Those with suspected problems should be referred for immediate cardiological review so that intervention, if necessary, can take place before pulmonary vascular disease develops. 7. It is recognized that minor heart defects (atrial septal defect and small ventricular septal defects) may be missed in those children who do not have echocardiograms but these should declare themselves clinically, as for any child, in the normal course of child health surveillance.

6. It is not always essential to refer newborn babies with the syndrome to a cardiologist. However, all clinical examinations should be by a doctor experienced in the care of newborns; CXR and ECG findings should be reviewed by an experienced paediatrician; echocardiograms should be carried out and reviewed by staff with appropriate paediatric experience in the field. Those with suspected problems should be referred for immediate cardiological review so that intervention, if necessary, can take place before pulmonary vascular disease develops.

7. It is recognized that minor heart defects (atrial septal defect and small ventricular septal defects) may be missed in those children who do not have echocardiograms but these should declare themselves clinically, as for any child, in the normal course of child health surveillance.

8. Parents and carers of all children with heart lesions should be given verbal and written information about infective carditis preventive measures. 9. It must always be remembered that despite a normal echo at birth children with Down's syndrome, like all other children, can develop heart disease at a later age secondary to airway problems. 10. There is an increased incidence of mitral valve prolapse and of aortic regurgitation in adults. This has implications for infective carditis prevention particularly because of the high incidence of periodontal disease among this population. We therefore recommend an echo screen for all people with Down's syndrome early in adult life. 11. If a potential risk situation for infective endocarditis arises for an adult with Down's syndrome who has not had an adult echo, preventive prophylactic measures should be started.

8. Parents and carers of all children with heart lesions should be given verbal and written information about infective carditis preventive measures.

9. It must always be remembered that despite a normal echo at birth children with Down's syndrome, like all other children, can develop heart disease at a later age secondary to airway problems.

10. There is an increased incidence of mitral valve prolapse and of aortic regurgitation in adults. This has implications for infective carditis prevention particularly because of the high incidence of periodontal disease among this population. We therefore recommend an echo screen for all people with Down's syndrome early in adult life.

11. If a potential risk situation for infective endocarditis arises for an adult with Down's syndrome who has not had an adult echo, preventive prophylactic measures should be started.

 

There are many medical problems that are commonly found in people with Down’s Syndrome as well as cardiac conditions These are usually not major problems in themselves, but they can affect health and development and should be screened for so that early diagnosis and treatment can be made Sometimes doctors are not fully aware of these issues in relation to Down’s Syndrome and they may put them down to being part of the syndrome itself or even related to the heart condition.

There are many medical problems that are commonly found in people with Down’s Syndrome as well as cardiac conditions

These are usually not major problems in themselves, but they can affect health and development and should be screened for so that early diagnosis and treatment can be made

Sometimes doctors are not fully aware of these issues in relation to Down’s Syndrome and they may put them down to being part of the syndrome itself or even related to the heart condition.

It is important for everyone with Down’s Syndrome that these medical problems are recognized and treated, but particularly for those with cardiac issues as developmental delays may be attributed to poor health and hospitalization due to the heart and thus other problems may be overlooked Relevant tests are carried out according to the guidelines issued by the Down’s Syndrome Medical Interest Group ( www.dsmig.org.uk ).

It is important for everyone with Down’s Syndrome that these medical problems are recognized and treated, but particularly for those with cardiac issues as developmental delays may be attributed to poor health and hospitalization due to the heart and thus other problems may be overlooked

Relevant tests are carried out according to the guidelines issued by the Down’s Syndrome Medical Interest Group ( www.dsmig.org.uk ).

BASIC MEDICAL SURVEILLANCE ESSENTIALS FOR PEOPLE WITH DOWN'S SYNDROME. CARDIAC DISEASE. CONGENITAL AND ACQUIRED (One of a set of guidelines drawn up by the Down’s Syndrome Medical Interest Group) 1. Between 40 and 50% of babies with Down’s syndrome have congenital heart defects. Of these 30-40% have complete atrioventricular septal defects. Most AVSD can be successfully treated if the diagnosis is made and the baby referred for full corrective surgery before irreversible pulmonary vascular disease is established . 2. There must be a high level of clinical suspicion of congenital heart disease for all newborns with the syndrome 3. It is essential to establish the cardiac status of every child by age 6 weeks. 4. Clinical examination alone is insufficient to detect all of even the most serious abnormalities 5. It is very unlikely that a serious abnormality requiring early intervention (atrio ventricular septal defect ) will be missed if one of the following courses of action is taken: Either: Clinical examination plus echocardiogram in the newborn period, both carried out by an appropriate person (see below). or: Clinical examination plus electrocardiogram(ECG) and chest X-ray(CXR) for all newborns and again at age 6 weeks, followed by echocardiography only for those with abnormal findings. However, even if early investigations are reported as 'normal', if a child develops signs or symptoms of cardiac disease appropriate investigations must take place as structural problems may not have been evident at an earlier age. 6. It is not always essential to refer newborn babies with the syndrome to a cardiologist. However, all clinical examinations should be by a doctor experienced in the care of newborns; CXR and ECG findings should be reviewed by an experienced paediatrician; echocardiograms should be carried out and reviewed by staff with appropriate paediatric experience in the field. Those with suspected problems should be referred for immediate cardiological review so that intervention, if necessary, can take place before pulmonary vascular disease develops. 7. It is recognised that minor heart defects (atrial septal defect and small ventricular septal defects) may be missed in those children who do not have echocardiograms but these should declare themselves clinically, as for any child, in the normal course of child health surveillance. 8. Parents and carers of all children with heart lesions should be given verbal and written information about infective carditis preventive measures.(sample document available) 9. It must always be remembered that despite a normal echo at birth children with Down's syndrome, like all other children, can develop heart disease at a later age secondary to airway problems. 10. There is an increased incidence of mitral valve prolapse and of aortic regurgitation in adults. This has implications for infective carditis prevention particularly because of the high incidence of periodontal disease among this population. We therefore recommend an echo screen for all people with Down's syndrome early in adult life. 11. If a potential risk situation for infective endocarditis arises for an adult with Down's syndrome who has not had an adult echo, preventive prophylactic measures should be started.

BASIC MEDICAL SURVEILLANCE ESSENTIALS FOR PEOPLE WITH

DOWN'S SYNDROME. CARDIAC DISEASE. CONGENITAL AND ACQUIRED

(One of a set of guidelines drawn up by the Down’s Syndrome Medical Interest Group)

1. Between 40 and 50% of babies with Down’s syndrome have congenital heart defects. Of these 30-40% have complete atrioventricular septal defects. Most AVSD can be successfully treated if the diagnosis is made and the baby referred for full corrective surgery before irreversible pulmonary vascular disease is established .

2. There must be a high level of clinical suspicion of congenital heart disease for all newborns with the syndrome

3. It is essential to establish the cardiac status of every child by age 6 weeks.

4. Clinical examination alone is insufficient to detect all of even the most serious abnormalities

5. It is very unlikely that a serious abnormality requiring early intervention (atrio ventricular septal defect ) will be missed if one of the following courses of action is taken:

Either: Clinical examination plus echocardiogram in the newborn period, both carried out by an appropriate person (see below).

or: Clinical examination plus electrocardiogram(ECG) and chest X-ray(CXR) for all newborns and again at age 6 weeks, followed by echocardiography only for those with abnormal findings.

However, even if early investigations are reported as 'normal', if a child develops signs or symptoms of cardiac disease appropriate investigations must take place as structural problems may not have been evident at an earlier age.

6. It is not always essential to refer newborn babies with the syndrome to a cardiologist. However, all clinical examinations should be by a doctor experienced in the care of newborns; CXR and ECG findings should be reviewed by an experienced paediatrician; echocardiograms should be carried out and reviewed by staff with appropriate paediatric experience in the field. Those with suspected problems should be referred for immediate cardiological review so that intervention, if necessary, can take place before pulmonary vascular disease develops.

7. It is recognised that minor heart defects (atrial septal defect and small ventricular septal defects) may be missed in those children who do not have echocardiograms but these should declare themselves clinically, as for any child, in the normal course of child health surveillance.

8. Parents and carers of all children with heart lesions should be given verbal and written information about infective carditis preventive measures.(sample document available)

9. It must always be remembered that despite a normal echo at birth children with Down's syndrome, like all other children, can develop heart disease at a later age secondary to airway problems.

10. There is an increased incidence of mitral valve prolapse and of aortic regurgitation in adults. This has implications for infective carditis prevention particularly because of the high incidence of periodontal disease among this population. We therefore recommend an echo screen for all people with Down's syndrome early in adult life.

11. If a potential risk situation for infective endocarditis arises for an adult with Down's syndrome who has not had an adult echo, preventive prophylactic measures should be started.

Physical Features of Down Syndrome Individuals with Down syndrome may have some or all of the following physical characteristics: oblique eye fissures with epicanthic skin folds on the inner corner of the eyes muscle hypotonia (poor muscle tone) flat nasal bridge single palmar fold (also known as a simian crease) protruding tongue (due to small oral cavity, and an enlarged tongue near the tonsils) short neck white spots on the iris known as Brushfield spots excessive flexibility in joints congenital heart defects excessive space between large toe and second toe, and a single flexion furrow of the fifth finger

Individuals with Down syndrome may have some or all of the following physical characteristics:

oblique eye fissures with epicanthic skin folds on the inner corner of the eyes

muscle hypotonia (poor muscle tone)

flat nasal bridge

single palmar fold (also known as a simian crease)

protruding tongue (due to small oral cavity, and an enlarged tongue near the tonsils)

short neck

white spots on the iris known as Brushfield spots

excessive flexibility in joints

congenital heart defects

excessive space between large toe and second toe, and a single flexion furrow of the fifth finger

Common Physical Characteristics in Neonates with Down Syndrome Characteristic Range of occurrence (%) Brachycephaly 63 to 98 Oblique palpebral fissures 70 to 98 Gap between first and second toes 44 to 97 Loose skin on nape of neck 17 to 94 Hyperflexibility 47 to 92 Ear abnormalities (set low, folded, stenotic meatus) 28 to 91 Protruding tongue secondary to small, narrow palate 32 to 89 Flat nasal bridge 57 to 87 Muscular hypotonia 21 to 85 Epicanthal folds 28 to 79 Brushfield spots (ring of iris speckles) 35 to 78 Short fifth finger 51 to 77 In-curved fifth finger 43 to 77 Short broad hands 38 to 75 High arched palate 59 to 74 Single palmar crease 42 to 64 Congenital cardiac defect (about one half are complete atrioventricular canal defects) * 40 to 50 Transient myelodysplasia of the newborn * About 10 Duodenal atresia * 5 to 8 * --Highly specific for Down syndrome.

Common Physical Characteristics in Neonates with Down Syndrome

Characteristic Range of occurrence (%)

Brachycephaly 63 to 98

Oblique palpebral fissures 70 to 98

Gap between first and second toes 44 to 97

Loose skin on nape of neck 17 to 94

Hyperflexibility 47 to 92

Ear abnormalities (set low, folded, stenotic meatus) 28 to 91

Protruding tongue secondary to small, narrow palate 32 to 89

Flat nasal bridge 57 to 87

Muscular hypotonia 21 to 85

Epicanthal folds 28 to 79

Brushfield spots (ring of iris speckles) 35 to 78

Short fifth finger 51 to 77

In-curved fifth finger 43 to 77

Short broad hands 38 to 75

High arched palate 59 to 74

Single palmar crease 42 to 64

Congenital cardiac defect (about one half

are complete atrioventricular canal defects) * 40 to 50

Transient myelodysplasia of the newborn * About 10

Duodenal atresia * 5 to 8

* --Highly specific for Down syndrome.

Most individuals with Down syndrome have mental retardation in the mild (IQ 50–70) to moderate (IQ 35–50) range, with scores of children having Mosaic Down syndrome typically 10–30 points higher In addition, individuals with Down syndrome can have serious abnormalities affecting any body system.

Most individuals with Down syndrome have mental retardation in the mild (IQ 50–70) to moderate (IQ 35–50) range, with scores of children having Mosaic Down syndrome typically 10–30 points higher

In addition, individuals with Down syndrome can have serious abnormalities affecting any body system.

White spot on the iris called Brushfield spots

White spot on the iris called Brushfield spots

The medical consequences of the extra genetic material in Down syndrome are highly variable and may affect the function of any organ system or bodily process The health aspects of Down syndrome encompass anticipating and preventing effects of the condition recognizing complications of the disorder managing individual symptoms assisting the individual and his/her family in coping and thriving with any related disability or illnesses

The medical consequences of the extra genetic material in Down syndrome are highly variable and may affect the function of any organ system or bodily process

The health aspects of Down syndrome encompass

anticipating and preventing effects of the condition

recognizing complications of the disorder

managing individual symptoms

assisting the individual and his/her family in coping and thriving with any related disability or illnesses

The most common manifestations of Down syndrome: characteristic facial features cognitive impairment congenital heart disease hearing deficits short stature thyroid disorders Alzheimer's disease Other less common serious illnesses include Leukemia immune deficiencies epilepsy

The most common manifestations of Down syndrome:

characteristic facial features

cognitive impairment

congenital heart disease

hearing deficits

short stature

thyroid disorders

Alzheimer's disease

Other less common serious illnesses include

Leukemia

immune deficiencies

epilepsy

These can contribute to a significantly shorter lifespan for people with Down syndrome One study, carried out in the United States in 2002, showed an average lifespan of 49 years, with considerable variations between different ethnic and socio-economic groups Fertility amongst both males and females is reduced, with only three recorded instances of males with Down syndrome fathering children

These can contribute to a significantly shorter lifespan for people with Down syndrome

One study, carried out in the United States in 2002, showed an average lifespan of 49 years, with considerable variations between different ethnic and socio-economic groups

Fertility amongst both males and females is reduced, with only three recorded instances of males with Down syndrome fathering children

The Atlanta Down Syndrome Project a population-based study of infants born with trisomy 21, provides a resource In the first 6.5 years of the study, 243 trisomy 21 livebirths were identified in the five-county Atlanta area (birth prevalence: 9.6/10,000) Cardiac diagnoses were available on 227 (93%) of the cases and 89% of these evaluations were made by echocardiography, cardiac catheterization, surgery, or autopsy Of the 227 DS infants, 44% had CHDs including: 45% atrioventricular septal defect (with or without other CHDs) 35% ventricular septal defect (with or without other CHDs) 8% isolated secundum atrial septal defect 7% isolated persistent patent ductus arteriosus 4% isolated tetralogy of Fallot 1% other.

The Atlanta Down Syndrome Project

a population-based study of infants born with trisomy 21, provides a resource

In the first 6.5 years of the study, 243 trisomy 21 livebirths were identified in the five-county Atlanta area (birth prevalence: 9.6/10,000)

Cardiac diagnoses were available on 227 (93%) of the cases and 89% of these evaluations were made by echocardiography, cardiac catheterization, surgery, or autopsy

Of the 227 DS infants, 44% had CHDs including:

45% atrioventricular septal defect (with or without other CHDs)

35% ventricular septal defect (with or without other CHDs)

8% isolated secundum atrial septal defect

7% isolated persistent patent ductus arteriosus

4% isolated tetralogy of Fallot

1% other.

In another study of infants born with Down Syndrome, revealed that: Congenital heart defects are common (40 to 60%) in Down’s babies Approximately 30 to 40% have complete atrioventricular septal defects . Early diagnosis generally allows corrective surgery to be performed for most of these septal defects.

In another study of infants born with Down Syndrome, revealed that:

Congenital heart defects are common (40 to 60%) in Down’s babies

Approximately 30 to 40% have complete atrioventricular septal defects .

Early diagnosis generally allows corrective surgery to be performed for most of these septal defects.

What causes congenital heart disease? Doctors do not know what causes most cases of congenital heart defects. Heredity may play a role. In rare cases, more than one child in a family is born with a heart defect. Also, parents who have a congenital heart defect may be more likely than other parents to have a child with the condition. Babies who have certain other birth defects, such as Down syndrome , are also more likely to have congenital heart defects. Other factors that raise the risk for congenital heart defects are: Having viral infections, such as German measles (rubella), during pregnancy Having diabetes Taking some types of prescription or over-the-counter medicines during pregnancy Being repeatedly exposed to some chemicals or x rays during pregnancy Using alcohol or street drugs during pregnancy Research continues to find the causes of congenital heart defects.

What causes congenital heart disease?

Doctors do not know what causes most cases of congenital heart defects. Heredity may play a role. In rare cases, more than one child in a family is born with a heart defect. Also, parents who have a congenital heart defect may be more likely than other parents to have a child with the condition.

Babies who have certain other birth defects, such as Down syndrome , are also more likely to have congenital heart defects.

Other factors that raise the risk for congenital heart defects are:

Having viral infections, such as German measles (rubella), during pregnancy

Having diabetes

Taking some types of prescription or over-the-counter medicines during pregnancy

Being repeatedly exposed to some chemicals or x rays during pregnancy

Using alcohol or street drugs during pregnancy

Research continues to find the causes of congenital heart defects.

A Congenital Heart Defect (CHD) is a heart problem which is present at birth, caused by improper development of the heart during fetal development In the majority of the instances when a baby is born with congenital heart disease, there is no known reason for the heart to have formed improperly Scientists know that some types of congenital heart defects can be related to: an abnormality of an infant's chromosomes (5 to 6 percent) single gene defects (3 to 5 percent) or environmental factors (2 percent) In 85 to 90 percent of cases, there is no identifiable cause for the heart defect, and they are generally considered to be caused by multifactorial inheritance . Multifactorial inheritance means that &quot;many factors&quot; (multifactorial) are involved in causing a birth defect. The factors are usually both genetic and environmental, where a combination of genes from both parents, in addition to unknown environmental factors, produce the trait or condition.

A Congenital Heart Defect (CHD) is a heart problem which is present at birth, caused by improper development of the heart during fetal development

In the majority of the instances when a baby is born with congenital heart disease, there is no known reason for the heart to have formed improperly

Scientists know that some types of congenital heart defects can be related to:

an abnormality of an infant's chromosomes (5 to 6 percent)

single gene defects (3 to 5 percent)

or environmental factors (2 percent)

In 85 to 90 percent of cases, there is no identifiable cause for the heart defect, and they are generally considered to be caused by multifactorial inheritance .

Multifactorial inheritance means that &quot;many factors&quot; (multifactorial) are involved in causing a birth defect. The factors are usually both genetic and environmental, where a combination of genes from both parents, in addition to unknown environmental factors, produce the trait or condition.

Chromosome abnormalities and CHD Problems with chromosomes that result in genetic syndromes, such as Down syndrome, often result in a higher incidence of infant heart malformations Five to 8 percent of all babies with CHD have a chromosome abnormality Chromosomes are the structures in your cells that contain your genes; genes code for your traits such as eye color and blood type Usually there are 46 chromosomes in each cell of the body. Having too many or too few chromosomes results in health problems and birth defects Structural defects of the chromosomes, where a piece of the chromosome is missing or present in duplicate, also causes health problems.

Chromosome abnormalities and CHD

Problems with chromosomes that result in genetic syndromes, such as Down syndrome, often result in a higher incidence of infant heart malformations

Five to 8 percent of all babies with CHD have a chromosome abnormality

Chromosomes are the structures in your cells that contain your genes; genes code for your traits such as eye color and blood type

Usually there are 46 chromosomes in each cell of the body. Having too many or too few chromosomes results in health problems and birth defects

Structural defects of the chromosomes, where a piece of the chromosome is missing or present in duplicate, also causes health problems.

Congenital heart defects are present in 40 to 60 percent of infants with Down syndrome. Consequently, all newborns with the syndrome should have an electrocardiogram and a screening echocardiogram, even if a murmur is not present. The long-term prognosis is best when an infant with a cardiac defect is promptly referred to a pediatric cardiologist for medical management to prevent pulmonary hypertension or to a pediatric cardiac surgeon for early surgical repair.

Congenital heart defects are present in 40 to 60 percent of infants with Down syndrome.

Consequently, all newborns with the syndrome should have an electrocardiogram and a screening echocardiogram, even if a murmur is not present.

The long-term prognosis is best when an infant with a cardiac defect is promptly referred to a pediatric cardiologist for medical management to prevent pulmonary hypertension or to a pediatric cardiac surgeon for early surgical repair.

The most common anomalies are: complete atrioventricular canal defects (60 percent) ventricular septal defects (32 percent) tetralogy of Fallot (6 percent) ostium secundum atrial septal defect (1 percent) isolated mitral cleft (1 percent)

The most common anomalies are:

complete atrioventricular canal defects (60 percent)

ventricular septal defects (32 percent)

tetralogy of Fallot (6 percent)

ostium secundum atrial septal defect (1 percent)

isolated mitral cleft (1 percent)

What are some of the most common heart defects and how are they treated?

Patent ductus arteriosus Before birth, a large artery ( ductus arteriosus ) lets the blood bypass the lungs because the fetus gets its oxygen through the placenta The ductus normally closes soon after birth so that blood can travel to the lungs and pick up oxygen. If it doesn’t close, the baby may develop heart failure This problem occurs most frequently in premature babies Drug treatment often can close the ductus If that doesn't work, surgery can close it.

Patent ductus arteriosus

Before birth, a large artery ( ductus arteriosus ) lets the blood bypass the lungs because the fetus gets its oxygen through the placenta

The ductus normally closes soon after birth so that blood can travel to the lungs and pick up oxygen. If it doesn’t close, the baby may develop heart failure

This problem occurs most frequently in premature babies

Drug treatment often can close the ductus

If that doesn't work, surgery can close it.

 

Septal defect This is a hole in the wall (septum) that divides the right and left sides of the heart A hole in the wall between the heart’s two upper chambers is called an atrial septal defect , while a hole between the lower chambers is called a ventricular septal defect These defects can cause the blood to circulate improperly, so the heart has to work too hard A surgeon can close the hole by sewing or patching it Small holes may heal by themselves or not need repair at all.

Septal defect

This is a hole in the wall (septum) that divides the right and left sides of the heart

A hole in the wall between the heart’s two upper chambers is called an atrial septal defect , while a hole between the lower chambers is called a ventricular septal defect

These defects can cause the blood to circulate improperly, so the heart has to work too hard

A surgeon can close the hole by sewing or patching it

Small holes may heal by themselves or not need repair at all.

 

Coarctation of the aorta Part of the aorta, the large artery that sends blood from the heart to the rest of the body, may be too narrow for the blood to flow evenly A surgeon can cut away the narrow part and sew the open ends together, replace the constricted section with man-made material, or patch it with part of a blood vessel taken from elsewhere in the body Sometimes, this narrowed area can be widened by inflating a balloon on the tip of a catheter (tube) inserted through an artery.

Coarctation of the aorta

Part of the aorta, the large artery that sends blood from the heart to the rest of the body, may be too narrow for the blood to flow evenly

A surgeon can cut away the narrow part and sew the open ends together, replace the constricted section with man-made material, or patch it with part of a blood vessel taken from elsewhere in the body

Sometimes, this narrowed area can be widened by inflating a balloon on the tip of a catheter (tube) inserted through an artery.

 

Heart valve abnormalities Some babies are born with heart valves that do not close normally or are narrowed or blocked, so blood can’t flow smoothly Surgeons usually can repair the valves or replace them with man-made ones Balloons on catheters also are frequently used to fix faulty valves.

Heart valve abnormalities

Some babies are born with heart valves that do not close normally or are narrowed or blocked, so blood can’t flow smoothly

Surgeons usually can repair the valves or replace them with man-made ones

Balloons on catheters also are frequently used to fix faulty valves.

Valvular heart disease is any disease process involving one or more valves of the heart . The valves in the right side of the heart are the tricuspid valve and the pulmonic valve . The valves in the left side of the heart are the mitral valve and the aortic valve .

Valvular heart disease is any disease process involving one or more valves of the heart .

The valves in the right side of the heart are the tricuspid valve and the pulmonic valve .

The valves in the left side of the heart are the mitral valve and the aortic valve .

Each valve may be too narrow ( stenosis ) or too wide or loose, causing regurgitation . There are different types of valvular heart disease: Aortic insufficiency Aortic valve stenosis Endocarditis Heart valve dysplasia Libman-Sacks endocarditis Loeffler endocarditis Mitral regurgitation Mitral stenosis Mitral valve prolapse Pulmonary valve stenosis Tricuspid insufficiency Tricuspid valve stenosis

Each valve may be too narrow ( stenosis ) or too wide or loose, causing regurgitation . There are different types of valvular heart disease:

Aortic insufficiency

Aortic valve stenosis

Endocarditis

Heart valve dysplasia

Libman-Sacks endocarditis

Loeffler endocarditis

Mitral regurgitation

Mitral stenosis

Mitral valve prolapse

Pulmonary valve stenosis

Tricuspid insufficiency

Tricuspid valve stenosis

 

Tetralogy of Fallot This combination of four heart defects keeps some blood from getting to the lungs As a result, the blood that is pumped to the body may not have enough oxygen Affected babies have episodes of cyanosis and may grow poorly This defect is usually surgically repaired at around 3 to 6 months of age (10) Most affected children live normal or near-normal lives.

Tetralogy of Fallot

This combination of four heart defects keeps some blood from getting to the lungs

As a result, the blood that is pumped to the body may not have enough oxygen

Affected babies have episodes of cyanosis and may grow poorly

This defect is usually surgically repaired at around 3 to 6 months of age (10)

Most affected children live normal or near-normal lives.

Pulmonary Valve stenosis; 2. VSD; 3. Overriding of the Aorta; 4.RVH

Pulmonary Valve stenosis; 2. VSD; 3. Overriding of the Aorta; 4.RVH

The Heart with TETRALOGY OF FALLOT In Tetralogy of Fallot , there are four specific defects in the heart: Pulmonary valve stenosis is a narrowing of the pulmonary valve and the area below the valve. This narrowing slows the flow of blood from the right side of the heart to the lungs. The heart must pump harder to push blood through the smaller opening to the lungs where the blood picks up oxygen. Ventricular septal defect (VSD) is a hole in the wall that separates the lower chambers (ventricles) of the heart. Overriding aorta is a defect in the position of the large artery (aorta) that takes oxygen-rich blood to the body. In a normal heart, the aorta attaches to the left lower chamber of the heart (ventricle). In tetralogy of Fallot, the aorta sits between the left and right ventricles, over the VSD. This causes mixing of oxygen-rich blood and oxygen-poor blood. Right ventricular hypertrophy is the thickening of the right lower chamber of the heart (ventricle). Unlike other muscles in your body, when the heart thickens, it does not work well. The heart has to pump harder to move blood through the narrowed pulmonary valve and the area below it.

In Tetralogy of Fallot , there are four specific defects in the heart:

Pulmonary valve stenosis is a narrowing of the pulmonary valve and the area below the valve. This narrowing slows the flow of blood from the right side of the heart to the lungs. The heart must pump harder to push blood through the smaller opening to the lungs where the blood picks up oxygen.

Ventricular septal defect (VSD) is a hole in the wall that separates the lower chambers (ventricles) of the heart.

Overriding aorta is a defect in the position of the large artery (aorta) that takes oxygen-rich blood to the body. In a normal heart, the aorta attaches to the left lower chamber of the heart (ventricle). In tetralogy of Fallot, the aorta sits between the left and right ventricles, over the VSD. This causes mixing of oxygen-rich blood and oxygen-poor blood.

Right ventricular hypertrophy is the thickening of the right lower chamber of the heart (ventricle). Unlike other muscles in your body, when the heart thickens, it does not work well. The heart has to pump harder to move blood through the narrowed pulmonary valve and the area below it.

Transposition of the great arteries Transposition occurs when the positions of the two major arteries leaving the heart are reversed, so that each arises from the wrong pumping chamber Affected newborns suffer from severe cyanosis due to a lack of oxygen in the blood Recent surgical advances make it possible to correct this otherwise lethal defect in the newborn period.

Transposition of the great arteries

Transposition occurs when the positions of the two major arteries leaving the heart are reversed, so that each arises from the wrong pumping chamber

Affected newborns suffer from severe cyanosis due to a lack of oxygen in the blood

Recent surgical advances make it possible to correct this otherwise lethal defect in the newborn period.

 

Hypoplastic left heart syndrome This combination of defects results in a left ventricle (the heart’s main pumping chamber) that is too small to support life This defect is the most common cause of death from congenital heart disease. However, over the past 20 years, survival rates have dramatically improved with new surgical procedures and, less frequently, heart transplants The long-term outlook for children with this heart defect remains uncertain.

Hypoplastic left heart syndrome

This combination of defects results in a left ventricle (the heart’s main pumping chamber) that is too small to support life

This defect is the most common cause of death from congenital heart disease. However, over the past 20 years, survival rates have dramatically improved with new surgical procedures and, less frequently, heart transplants

The long-term outlook for children with this heart defect remains uncertain.

 

Heart About 40 – 60% of babies born with Down’s Syndrome have congenital heart defects and not all of these will exhibit symptoms in the first few months of life. Accordingly all babies diagnosed as having Down’s Syndrome should be screened for cardiac problems and this should be done within the first six weeks after birth to ensure that serious abnormalities can be treated at the optimum time. Clinical examination alone is not sufficient and should be carried out together with either an echocardiogram (performed by someone with appropriate paediatric experience) or with an electrocardiogram (ECG) and chest x-ray (again these should be examined by someone with appropriate paediatric experience).

Heart

About 40 – 60% of babies born with Down’s Syndrome have congenital heart defects and not all of these will exhibit symptoms in the first few months of life.

Accordingly all babies diagnosed as having Down’s Synd

Add a comment

Related pages

Down-Syndrom – Wikipedia

Das Down-Syndrom ist ein bei Menschen vorkommendes Syndrom, bei dem aufgrund einer Genommutation (Chromosomenaberration/ Polyploidie) das gesamte 21.
Read more

Down-Syndrom (Trisomie 21) - NetDoktor.de

Das Down-Syndrom ist eine Chromosomenstörung. Betroffene besitzen drei Exemplare des Chromosoms Nummer 21. Hier erfahren Sie mehr!
Read more

Down syndrome - Wikipedia, the free encyclopedia

Down syndrome (DS or DNS), also known as trisomy 21, is a genetic disorder caused by the presence of all, or part of a third copy of chromosome 21. It is ...
Read more

Down-Syndrom (Trisomie 21) - Onmeda.de

Das Down-Syndrom ist mit 1 auf 700 Geburten die häufigste angeborene Chromosomenveränderung (Chromosomenanomalie). Bei Menschen mit dem
Read more

Down Syndrome - KidsHealth

Down syndrome is a condition in which extra genetic material causes delays in the way a child develops, both physically and mentally.
Read more

Arbeitskreis Down-Syndrom

Willkommen auf den Internetseiten des Arbeitskreis Down-Syndrom e.V.! Seit über 30 Jahren setzt sich der Arbeitskreis Down-Syndrom e.V. für die Rechte ...
Read more

Willkommen beim Arbeitskreis DOWN-Syndrom e.V.

Website Arbeitskreis DOWN-Syndrom e.V., (Kirchlinteln) ... Unsere Erstlektüre Nächster Termin: Donnerstag, 2.6.2016, 19 Uhr Monatliches Treffen
Read more

Menue - down-syndrom.de

Begrüßungsseite für Babys mit Down-Syndrom Wenn Sie ein Baby mit Down-Syndrom in Ihrer Familie bekommen haben, dann haben Sie sicherlich viele Fragen ...
Read more

Down-Syndrom - DocCheck Flexikon

1 Definition. Das Down-Syndrom ist eine genetisch bedingte Erkrankung, die durch eine Chromosomenaberration ausgelöst wird. Das Chromosom 21 liegt nicht ...
Read more

Behinderungen: Down-Syndrom - Planet Wissen

Wissenschaftliche Untersuchungen haben inzwischen ergeben, dass Kinder mit Down-Syndrom ein emotional besonders stabiles familiäres Umfeld benötigen, um ...
Read more