Cardiac involvement in infantile Sandhoff disease.

Abstract

An 18-month-old boy with enzyme assay-confirmed infantile Sandhoff disease (MIM 268800) is reported. Besides the classical neurological features, this patient 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 outflow tract obstruction.

• Authors: P Venugopalan, S N Joshi
• Journal: Journal of paediatrics and child health (J Paediatr Child Health) Vol. 38 Issue 1 Pg. 98-100 (Feb 2002) ISSN: 1034-4810 [Print] Australia
• PMID: 11869411 (Publication Type: Journal Article)

Chemical References

• Angiotensin-Converting Enzyme Inhibitors
• Diuretics

Topics

• Angiotensin-Converting Enzyme Inhibitors (administration & dosage, therapeutic use)
• Diuretics (administration & dosage, therapeutic use)
• Drug Therapy, Combination
• Echocardiography
• Heart Valve Diseases (complications, diagnostic imaging, drug therapy)
• Humans
• Infant
• Male
• Oman
• Sandhoff Disease (complications, physiopathology)