Diagnosing burned-out hypertrophic cardiomyopathy: Daughter's phenotype solidifies father's diagnosis

AbstractPatients with hypertrophic cardiomyopathy classically have preserved systolic function in the setting of impaired diastolic function and decreased left ventricular end-diastolic volume. However, in a small sub-population, patients paradoxically develop systolic dysfunction, left ventricular dilatation, and ventricular wall thinning. This pattern is one that is likened to dilated cardiomyopathy and is known as end-stage hypertrophic cardiomyopathy or “burned-out cardiomyopathy.” The role of cardiac magnetic resonance imaging is well defined in narrowing the differential diagnosis of impaired left ventricular function, including that of hypertrophic cardiomyopathy. However, the importance of obtaining a family history and obtaining details of diagnosis for both preceding and future generations cannot be under-estimated. We report a case of end-stage hypertrophic cardiomyopathy that highlights how important family history can be in making a diagnosis.