Heart Failure Compendium: Genetic Cardiomyopathies Causing Heart Failure

Heart Failure Compendium: Genetic Cardiomyopathies Causing Heart Failure

Thomas J. Cahill, Houman Ashrafian, Hugh Watkins

Cardiac magnetic resonance imaging (MRI) scan demonstrating features of phenotypic overlap across the standard cardiomyopathy classification. Horizontal long-axis (A), vertical long-axis (B), short-axis (C), and late gadolinium-enhanced (D) cardiac MRIs from a patient presenting with symptoms of heart failure. This study demonstrates a mildly dilated left ventricle with severely impaired systolic function (ejection fraction, 35%). Significant left ventricular hypertrophy is seen and is most pronounced in the septum. There was late gadolinium enhancement in the basal midseptum, also involving the inferior right ventricular–left ventricular junction (D). Additionally, the lateral wall shows prominent trabeculation, but this does not reach the current diagnostic threshold for left ventricular noncompaction. The features manifest in this scan are most consistent with hypertrophic cardiomyopathy (HCM) in a burnt-out phase, but HCM and left ventricular noncompaction cardiomyopathy are subject to phenotypic and pathogenic overlap. [Powerpoint File]

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