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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