William Syndrome Associated with Hypertrophic Cardiomyopathy and Severe Left Ventricular Outflow Obstruction: A Rare Case Report

Abstract

Williams syndrome (WS), also referred to as Williams-Beuren syndrome, is a rare complex congenital developmental multisystem disorder, occurring in 1 per 20,000 live births, It is characterized by congenital heart defects (CHD), skeletal, renal anomalies, cognitive disorder, social personality disorder and notably dysmorphic Elfin-like facies. Supravalvular aortic stenosis is the most frequent cardiovascular abnormality in WS children. WS occurs as the result of a deletion of approximately 1.5-1.8 Mb on chromosome 7q11.23. The deletion is almost always denovo, however familial cases have been reported. Genetic study is usually required for a definitive diagnosis, but genetic testing is often unavailable in the developing countries and the combination of a typical clinical phenotype and echocardiographic profile helps to confirm the diagnosis. The prevalence of hypertrophic cardiomyopathy (HCM) is about 0.05 to 0.2% of general population and is extremely scarce in association with WS. The occurrence of HCM is a significant cause of sudden cardiac death (SCD) in any age group and a cause of heart failure. We are reporting an extraordinary case report of Williams’s syndrome with HCM complicated by severe left ventricular outflow obstruction (LVOT) in a 5 year old male child.

Keywords:  Williams Syndrome, Hypertrophic Cardiomyopathy, Elfin Facies, LVOT obstruction, SAM, SCD.