Dilated Cardiomyopathy: Think of the Diet

Abstract

A term, breast-fed infant with a known inherited bile acid transport defect and cholestatic jaundice presented collapsed with signs of congestive heart failure at 6 months of age. He was diagnosed with severe dilated cardiomyopathy (DCM) and stabilised with medical treatment.

As part of diagnostic screening for DCM he was found to be severely vitamin D deficient, due to a combination of cholestatic liver disease and maternal vitamin D deficiency. Once appropriate supplementation was instituted he made a complete recovery over the following 12 months with restitution of normal cardiac function.

Whilst vitamin D deficiency is relatively prevalent, presentation with vitamin D dependent cardiomyopathy is rare. Cardiac function is often severely impaired at presentation, and the disease course can be fulminant and rapidly life-threatening without urgent treatment, including mechanical circulatory support and/or primary cardiac transplantation. Despite the high early mortality, however, vitamin D deficient cardiomyopathy is one of the few treatable causes of dilated cardiomyopathy with an excellent long-term prognosis in those who survive their initial presentation.

This chapter highlights a rare, life-threatening, and potentially fully reversible cause of dilated cardiomyopathy, and the importance of rigorous and comprehensive screening for patients with unexplained DCM.