Disease Progresses Rapidly, With Deaths Occurring By 3–5 Years Of Age

Abstract

Tough cardiac involvement has been reported in an 18-month-old boy alongside the classical neurological features, the child exhibited severe mitral regurgitation secondary to mitral valve prolapse and mild aortic regurgitation from aortic valve prolapse. He also had asymmetric hypertrophy of the interventricular septum without left ventricular outfow tract obstruction. Similarly, another case report describes a 14-month-old female baby who exhibited mitral regurgitation and cardiomegaly at the age of 2 months and dilation of the left atrium and left ventricle at the age of 6 months with SD However, congenital heart disease such as ventricular septal defect has not yet been reported in infantile SD. Te association of VSD with Sandhof disease is likely coincidental, and there is no pathophysiological mechanism to explain this association