Syndromes Associated with Congenital Heart Disease


Supravalvular Aortic Stenosis

Patients with discrete supravalvar aortic stenosis AS usually have good operative results with patch repair of the aortic root just above the valve. Residual valvular and supravalvar aortic stenosis can be familial and associated with the Williams syndrome. Genetic counseling is extremely important for this group of patients. When late repair is accomplished, there is concern regarding progressive coronary artery disease, since the coronary arteries are in the high pressure region. Some syndromes involving congenital cardiac lesions are listed below.

Williams syndrome
• Hypercalcemia
• Elfin facies
• Mental retardation
• Supravalvar PS
• Supraoartic AS
• Peripheral pulmonic stenosis

Lutembacher’s syndrome
• Rheumatic MS

Noonan’s syndrome
• PS due to valve dysplasia
• Short stature webbed neck
• Low nuchal hairline
• Low set ears
• Cubitus valgus
• Hypertrophic cardiomyopathy

Turner’s syndrome
• Short stature
• Webbed neck
• Low nuchal hairline
• Low set ears
• Cubitus valgus
• Coarctation of the aorta
• Aortic stenosis
• Propensity to aortic dissection

Holt-Oram syndrome
Heart-hand syndrome with autosomal dominant inheritance is characterized by upper limb and cardiac septal defects

Pulmonary stenosis
Right ventricular outflow tract obstruction is valvular in 90% of cases and suprvalvar or subvalvar in 10%. Supravalvar pulmonary stenosis PS results from the narrowing of the pulmonary trunk, its bifurcation, or its peripheral branches, it often coexists with other congenital cardiac abnormalties (valvular PS, atrial septal defect ASD, ventricular septal defect VSD, patent ductus arterious PDA or TOF, especially if there is pulmonary atresia. Subvalvar PS, caused by narrowing of the right ventricle RV infundibulum or sub infundibulum, usually occurs in association with a VSD.

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