![]() HCM is an autosomal dominant disease caused by mutations in genes encoding sarcomere proteins. It is also the most common cause of sudden cardiac death (SCD) in young individuals and young athletes. Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiovascular disorder, with a prevalence of 1:500 in the general population. ![]() ![]() ![]() It is likely that integrating genetic advances with enhanced phenotypic characterization of HCM with novel CMR techniques will importantly improve our understanding of this complex disease. Late gadolinium enhancement by CMR is present in approximately 60% of HCM patients with LVH and may provide novel information regarding risk stratification in HCM. Diastolic dysfunction may be an early marker of the disease, present in mutation carriers prior to the development of left ventricular hypertrophy (LVH). The early and overt phenotypic expression of disease that may be identified by CMR is reviewed. The purpose of this review is to provide an overview of the clinical, pathological and imaging features relevant to understanding the diagnosis of HCM. Noninvasive imaging is central to the diagnosis of HCM and cardiovascular magnetic resonance (CMR) is increasingly used to characterize morphologic, functional and tissue abnormalities associated with HCM. Over 1000 mutations have been identified, classically in genes encoding sarcomeric proteins. HCM is characterized by a wide range of clinical expression, ranging from asymptomatic mutation carriers to sudden cardiac death as the first manifestation of the disease. Hypertrophic cardiomyopathy (HCM) is the most common genetic disease of the heart.
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