Hypertrophic Cardiomyopathy from A to Z: Genetics, Pathophysiology, Imaging, and Management
| Autor: | Daniel Ocazionez, Ameya Baxi, Horacio Murillo, Alejandro Marmol-Velez, Daniel Vargas, Carlos S. Restrepo |
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| Rok vydání: | 2016 |
| Předmět: |
Sarcomeres
medicine.medical_specialty Pathology Heart Ventricles Hypertension Pulmonary Cardiomyopathy Magnetic Resonance Imaging Cine Muscle Proteins Penetrance 030204 cardiovascular system & hematology Gene mutation Left ventricular hypertrophy Ventricular Outflow Obstruction 030218 nuclear medicine & medical imaging Sudden cardiac death Diagnosis Differential 03 medical and health sciences 0302 clinical medicine Internal medicine Multidetector Computed Tomography Cardiomyopathy Hypertrophic Familial Heart Septum medicine Humans Radiology Nuclear Medicine and imaging Genetic Testing cardiovascular diseases Genetic Association Studies Genes Dominant Heart Failure Genetics medicine.diagnostic_test business.industry Hypertrophic cardiomyopathy Disease Management Magnetic resonance imaging medicine.disease Heart failure Disease Progression cardiovascular system Cardiology Cardiomyopathies business |
| Zdroj: | RadioGraphics. 36:335-354 |
| ISSN: | 1527-1323 0271-5333 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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