![]() In that study, wall thickness was evaluated only on short axis views. Circ Cardiovasc Imaging 2011 ) in 60 men and 60 women Caucasian subjects. Further, only one major CMR manuscript has focused on establishing normal values for LV wall thickness using current steady state free precession (SSFP) pulse sequences at 1.5 T (Dawson, Dawson et al. However, Maron et al., have stated that virtually any LV wall thickness, even when within normal limits, can be consistent with the presence of an HCM-causing mutant gene. Noninvasive diagnosis is based on left ventricular (LV) wall thickness ≥ 15 mm at end-diastole (frequently involving the interventricular septum) or septal to lateral wall thickness ratio higher than 1.3 in a non-dilated LV in the absence of a loading condition sufficient to cause the observed abnormality. The diagnosis of HCM is based largely on imaging features. On the imaging level, risk factors for SCD in HCM include left ventricular (LV) wall thickness and left ventricular outflow tract (LVOT) obstruction (Table 1). Current risk factor stratification for SCD considers multiple factors, including nonsustained ventricular tachycardia, syncope, exercise blood pressure response, family history of sudden death, high risk genetic mutations as considered in individual patients. ![]() The annual mortality rate of HCM ranges from < 1% in the general community to 3-6% in tertiary referral centers. ![]() Adult relatives of HCM affected individuals beyond age 18 may be screened at 5 year intervals. Clinical screening of first-degree relatives is recommended annually during adolescence (age 12-18). Although the most common expression of HCM is during adolescence, patients may present at any point in life. The penetrance of left ventricular hypertrophy (LVH) is highly age-dependent and incomplete. Autosomal recessive, X-linked, and mitochondrial (matrilinear) patterns of inheritance also occur. 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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