Cardiac involvement in infantile Sandhoff disease

Area of Science:

• Biochemistry
• Genetics
• Cardiology

Background:

• Sandhoff disease is a rare, fatal neurodegenerative lysosomal storage disorder.
• Infantile Sandhoff disease typically presents with severe neurological impairment.

Purpose of the Study:

• To report a case of infantile Sandhoff disease with unusual cardiac manifestations.
• To highlight the importance of comprehensive evaluation in Sandhoff disease.

Main Methods:

• Enzyme assay for Sandhoff disease confirmation.
• Clinical examination for neurological and cardiac assessment.
• Echocardiography to evaluate cardiac structure and function.

Main Results:

• Enzyme assay confirmed infantile Sandhoff disease.
• Patient exhibited classical neurological features.
• Severe mitral regurgitation secondary to mitral valve prolapse and mild aortic regurgitation from aortic valve prolapse were observed.
• Asymmetric hypertrophy of the interventricular septum was noted without left ventricular outflow tract obstruction.

Conclusions:

• Sandhoff disease can present with significant cardiac abnormalities beyond neurological symptoms.
• Early recognition and management of cardiac complications are crucial in patients with Sandhoff disease.