Rare case of familial restrictive cardiomyopathy : a case report
Journal Title: Journal of the Indian Medical Association - Year 2018, Vol 116, Issue 7
Abstract
Familial restrictive cardiomyopathy is an extremely rare disease affecting the heart. The exact incidence and genetic associations are not well delineated. It generally presents with a restrictive filling pattern on echocardiography with normal or near normal systolic function. We present the case of a 29 year old male who had features of biventricular failure. Echocardiography, cardiac MRI and catheterisation data confirmed the diagnosis of restrictive cardiomyopathy. Other investigations ruled out secondary causes of a restrictive physiology and the strong family history clinched the diagnosis in favour of a familial restrictive cardiomyopathy. Familial restrictive cardiomyopathy heralds a grave prognosis. A heart transplant appears to be the only modality of therapy which offers long term sustained resolution of symptoms. Our patient is currently waiting for the availability of a suitable donor for a heart transplant.
Authors and Affiliations
Abhishek Roy, Debabrata Roy, S Kumar
Keywords
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