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Down Syndromeand
Congenital Heart Disease
Dr. Michael SchafferProfessor of Pediatrics
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Financial Disclosures
No relevant financial relationships with anycommercial interests.
Congenital Heart Disease in Down Syndrome
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Objectives
Congenital Heart Disease in Down Syndrome
Examine the frequency of congenital heartdisease in Down Syndrome
Discuss prenatal diagnosis and its value Discuss the physiology/pathophysiology of
congenital heart disease in Down Syndrome
Discuss the results of surgical repair Discuss long term survival and ACHD
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Frequency
Congenital Heart Disease in Down Syndrome
50 % of all children with Down Syndrome have CHD
Most will need surgery in the first year of life
10% will need surgery in the first month
EVERY CHILD WILL BE EVALUATED FOR HEART DISEASE
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DIAGNOSIS
Congenital Heart Disease in Down Syndrome
Cardiac Ultrasound (echocardiography),
99% accurate
Cardiac MRI and Catheterization
Chest Xray and ECG
HIGH FREQUENCY and NEED FOR EARLY SURGERYEARLY (PRENATAL) DIAGNOSIS IS
DESIRABLE (MANDATORY)
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PRENATAL DIAGNOSIS
Congenital Heart Disease in Down Syndrome
What is a fetal echocardiogram?
Fetal cardiacstructures
Ventricularfunction
Blood flowpatterns
Heart rhythm
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PRENATAL DIAGNOSIS
Congenital Heart Disease in Down Syndrome
What is a fetal echocardiogram?
Fetal cardiacstructures
Ventricularfunction
Blood flowpatterns
Heart rhythm
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PRENATAL DIAGNOSIS
Congenital Heart Disease in Down Syndrome
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How early can CHD be detected?
Routine midtrimester fetal echo is performed after 18wks gestation
Early fetal echo is available at CHCo after 12 wks13 weeks gestation
Congenital Heart Disease in Down Syndrome
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Why is early/fetal detection heart disease so
important?
Reassurance in high risk pregnanciesAdequate time for family education, preparation,
and decision-making
Time for additional fetal testing and intervention Optimization of prenatal management and
delivery planning (when, where and by whom)
Congenital Heart Disease in Down Syndrome
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ANATOMY AND PHYSIOLOGY
Congenital Heart Disease in Down Syndrome
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ANATOMY AND PHYSIOLOGY
Congenital Heart Disease in Down Syndrome
As increasing blood crosses the septal defect
a. more blood needs to be pumped tomaintain cardiac output (flow to the body)
b. burns extra calories and causes poorgrowth
c. The increased pulmonary blood flow may
ultimately lead to irreversible lung
disease, PULMONARY HYPERTENSION
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ANATOMY AND PHYSIOLOGY
Congenital Heart Disease in Down Syndrome
IN DOWN SYNDROME,IRREVERSIBLE PULMONARY HYPERTENSION
OCCURS MORE FREQUENTLY AND EARLIER
THUS THE NEED FOR EARLY, ACCURATE DETECTION
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CARDIAC SURGERY
Congenital Heart Disease in Down Syndrome
MORTALITY IS EQUAL IN DOWN SYNDROME(2% IN MAJOR PEDIATRIC CARDIAC CENTERS)
BETTER RESULTS 1996-2006 vs. 1985-95
MORBIDITY IS HIGHER IN DOWN SYNDROMEHOSPITAL AND ICU LENGTH OF STAY
POST-OPERATIVE INFECTION
POST OPERATIVE PULMONARY HYPERTENSION
NEURODEVELOPMENTAL and NEUROCOGNITIVE
TESTING (motor and sensory) IS FURTHER
IMPAIRED IN DOWN SYNDROME CHILDREN POST
CARDIOPULMONARY BYPASS than DOWNSYNDROME CHILDREN WITHOUT CPB
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LONG TERM SURVIVAL
and theADULT WITH CONGENITAL HEART DISEASE
Congenital Heart Disease in Down Syndrome
BETTER SURGICAL RESULTS HAVE INCREASED THE LIFE EXPECTANCY
Decreased mortality with less complications has increased the populationof individuals with Down Syndrome and Congenital Heart Disease
surviving into adulthood (ACHD)
WITH INCREASED SURVIVAL COMES NEW LATE POSTOPERATIVE CONDITIONS
Myocardial dysfunction (congestive heart failure),
Cardiac arrhythmias,
Pulmonary hypertension
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Objectives
Congenital Heart Disease in Down Syndrome
Examine the frequency of congenital heartdisease in Down Syndrome
Discuss prenatal diagnosis and its value Discuss the physiology/pathophysiology of
congenital heart disease in Down Syndrome
Discuss the results of surgical repair Discuss long term survival and ACHD
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