Down Syndrome and Congenital Heart Disease

Dr. Michael Schaffer Professor of Pediatrics

Congenital Heart Disease in Down Syndrome Financial Disclosures

No relevant financial relationships with any

commercial interests.

Congenital Heart Disease in Down Syndrome Objectives

Examine the frequency of congenital heart

disease 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

Congenital Heart Disease in Down Syndrome Frequency

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

Congenital Heart Disease in Down Syndrome DIAGNOSIS

Cardiac Ultrasound (echocardiography), 99% accurate Cardiac MRI and Catheterization Chest Xray and ECG HIGH FREQUENCY and NEED FOR EARLY SURGERY EARLY (PRENATAL) DIAGNOSIS IS DESIRABLE (MANDATORY)

Congenital Heart Disease in Down Syndrome PRENATAL DIAGNOSIS What is a fetal echocardiogram?
Fetal cardiac
structures

Ventricular
function

Blood flow
patterns

Heart rhythm

Congenital Heart Disease in Down Syndrome PRENATAL DIAGNOSIS What is a fetal echocardiogram?
Fetal cardiac
structures

Ventricular
function

Blood flow
patterns

Heart rhythm

Congenital Heart Disease in Down Syndrome PRENATAL DIAGNOSIS

Congenital Heart Disease in Down Syndrome How early can CHD be detected?

Routine midtrimester fetal echo is performed after 18

wks gestation Early fetal echo is available at CHCo after 12 wks
13 weeks gestation

Congenital Heart Disease in Down Syndrome Why is early/fetal detection heart disease so important?
Reassurance in high risk pregnancies Adequate 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 ANATOMY AND PHYSIOLOGY

Congenital Heart Disease in Down Syndrome ANATOMY AND PHYSIOLOGY

As increasing blood crosses the septal defect a. b. c. more blood needs to be pumped to maintain cardiac output (flow to the body) burns extra calories and causes poor growth The increased pulmonary blood flow may ultimately lead to irreversible lung disease, PULMONARY HYPERTENSION

Congenital Heart Disease in Down Syndrome ANATOMY AND PHYSIOLOGY

IN DOWN SYNDROME, IRREVERSIBLE PULMONARY HYPERTENSION OCCURS MORE FREQUENTLY AND EARLIER THUS THE NEED FOR EARLY, ACCURATE DETECTION

Congenital Heart Disease in Down Syndrome CARDIAC SURGERY

MORTALITY IS EQUAL IN DOWN SYNDROME
(2% IN MAJOR PEDIATRIC CARDIAC CENTERS) BETTER RESULTS 1996-2006 vs. 1985-95

MORBIDITY IS HIGHER IN DOWN SYNDROME

HOSPITAL 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 DOWN SYNDROME CHILDREN WITHOUT CPB

Congenital Heart Disease in Down Syndrome

LONG TERM SURVIVAL and the ADULT WITH CONGENITAL HEART DISEASE
BETTER SURGICAL RESULTS HAVE INCREASED THE LIFE EXPECTANCY Decreased mortality with less complications has increased the population of 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

Congenital Heart Disease in Down Syndrome Objectives

Examine the frequency of congenital heart

disease in Down Syndrome Discuss prenatal diagnosis and its value congenital heart disease in Down Syndrome

Discuss the physiology/pathophysiology of Discuss the results of surgical repair Discuss long term survival and ACHD