title: Hypertrophic Cardiomyopathy from A to Z: Genetics, Pathophysiology, Imaging, and Management.
abstract: Hypertrophic cardiomyopathy (HCM) is a heterogeneous group of diseases related to sarcomere gene mutations exhibiting heterogeneous phenotypes with an autosomal dominant mendelian pattern of inheritance. The disorder is characterized by diverse phenotypic expressions and variable natural progression, which may range from dyspnea and/or syncope to sudden cardiac death. It is found across all racial groups and is associated with left ventricular hypertrophy in the absence of another systemic or cardiac disease. The management of HCM is based on a thorough understanding of the underlying morphology, pathophysiology, and clinical course. Imaging findings of HCM mirror the variable expressivity and penetrance heterogeneity, with the added advantage of diagnosis even in cases where a specific mutation may not yet be found. The diagnostic information obtained from imaging varies depending on the specific stage of HCM-phenotype manifestation, including the prehypertrophic, hypertrophic, and later stages of adverse remodeling into the burned-out phase of overt heart failure. However, subtle or obvious, these imaging findings become critical components in diagnosis, management, and follow-up of HCM patients. Although diagnosis of HCM traditionally relies on clinical assessment and transthoracic echocardiography, recent studies have demonstrated increased utility of multidetector computed tomography (CT) and particularly cardiac magnetic resonance (MR) imaging in diagnosis, phenotype differentiation, therapeutic planning, and prognostication. In this article, we provide an overview of the genetics, pathophysiology, and clinical manifestations of HCM, with the spectrum of imaging findings at MR imaging and CT and their contribution in diagnosis, risk stratification, and therapy.
authors.affiliation: From the Departments of Radiology (A.J.B., C.S.R.) and Cardiology (A.M.V.), University of Texas Health Science Center at San Antonio, 7703 Floyd Curl Dr, MC 7800, San Antonio, TX 78229-3900; Department of Radiology, University of Colorado Hospital, Denver, Colo (D.V.); Department of Radiology, University of Texas Medical School at Houston, Houston, Tex (D.O.); and Department of Radiology, Sutter Medical Group, Sacramento, Calif (H.M.).
authors.forename: Ameya Jagdish
authors.initials: AJ
authors.lastname: Baxi
authors.affiliation: From the Departments of Radiology (A.J.B., C.S.R.) and Cardiology (A.M.V.), University of Texas Health Science Center at San Antonio, 7703 Floyd Curl Dr, MC 7800, San Antonio, TX 78229-3900; Department of Radiology, University of Colorado Hospital, Denver, Colo (D.V.); Department of Radiology, University of Texas Medical School at Houston, Houston, Tex (D.O.); and Department of Radiology, Sutter Medical Group, Sacramento, Calif (H.M.).
authors.forename: Carlos S
authors.initials: CS
authors.lastname: Restrepo
authors.affiliation: From the Departments of Radiology (A.J.B., C.S.R.) and Cardiology (A.M.V.), University of Texas Health Science Center at San Antonio, 7703 Floyd Curl Dr, MC 7800, San Antonio, TX 78229-3900; Department of Radiology, University of Colorado Hospital, Denver, Colo (D.V.); Department of Radiology, University of Texas Medical School at Houston, Houston, Tex (D.O.); and Department of Radiology, Sutter Medical Group, Sacramento, Calif (H.M.).
authors.forename: Daniel
authors.initials: D
authors.lastname: Vargas
authors.affiliation: From the Departments of Radiology (A.J.B., C.S.R.) and Cardiology (A.M.V.), University of Texas Health Science Center at San Antonio, 7703 Floyd Curl Dr, MC 7800, San Antonio, TX 78229-3900; Department of Radiology, University of Colorado Hospital, Denver, Colo (D.V.); Department of Radiology, University of Texas Medical School at Houston, Houston, Tex (D.O.); and Department of Radiology, Sutter Medical Group, Sacramento, Calif (H.M.).
authors.forename: Alejandro
authors.initials: A
authors.lastname: Marmol-Velez
authors.affiliation: From the Departments of Radiology (A.J.B., C.S.R.) and Cardiology (A.M.V.), University of Texas Health Science Center at San Antonio, 7703 Floyd Curl Dr, MC 7800, San Antonio, TX 78229-3900; Department of Radiology, University of Colorado Hospital, Denver, Colo (D.V.); Department of Radiology, University of Texas Medical School at Houston, Houston, Tex (D.O.); and Department of Radiology, Sutter Medical Group, Sacramento, Calif (H.M.).
authors.forename: Daniel
authors.initials: D
authors.lastname: Ocazionez
authors.affiliation: From the Departments of Radiology (A.J.B., C.S.R.) and Cardiology (A.M.V.), University of Texas Health Science Center at San Antonio, 7703 Floyd Curl Dr, MC 7800, San Antonio, TX 78229-3900; Department of Radiology, University of Colorado Hospital, Denver, Colo (D.V.); Department of Radiology, University of Texas Medical School at Houston, Houston, Tex (D.O.); and Department of Radiology, Sutter Medical Group, Sacramento, Calif (H.M.).
authors.forename: Horacio
authors.initials: H
authors.lastname: Murillo
mesh_terms: D009202:Cardiomyopathies / Q000175:diagnosis; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000000981:diagnostic imaging* / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D003937:Diagnosis, Differential; D019468:Disease Management; D018450:Disease Progression; D005799:Genes, Dominant; D056726:Genetic Association Studies; D005820:Genetic Testing; D006333:Heart Failure / Q000209:etiology; D006346:Heart Septum / Q000000981:diagnostic imaging / Q000473:pathology; D006352:Heart Ventricles / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D006976:Hypertension, Pulmonary / Q000209:etiology; D019028:Magnetic Resonance Imaging, Cine; D061330:Multidetector Computed Tomography; D009124:Muscle Proteins / Q000235:genetics; D019683:Penetrance; D012518:Sarcomeres / Q000648:ultrastructure; D014694:Ventricular Outflow Obstruction / Q000000981:diagnostic imaging / Q000209:etiology
chemical_list: D009124:Muscle Proteins