Clinical Utility of a Phenotype-Enhanced MYH7 -Specific Variant Classification Framework in Hypertrophic Cardiomyopathy Genetic Testing
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چکیده
منابع مشابه
Clinical Utility of Cardiovascular Magnetic Resonance in Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy (HCM) is characterized by substantial genetic and phenotypic heterogeneity, leading to considerable diversity in clinical course including the most common cause of sudden death in young people and a determinant of heart failure symptoms in patients of any age. Traditionally, two-dimensional echocardiography has been the most reliable method for establishing a clinica...
متن کاملCan genetic testing improve our aim in hypertrophic cardiomyopathy?
Hypertrophic cardiomyopathy (HCM) is a common inherited disorder with an estimated prevalence of 1 in 500 worldwide. The disease is inherited in families in an autosomal dominant fashion and is usually caused by mutations in genes encoding contractile proteins such as cardiac -myosin heavy chain (MYH7), cardiac troponin T (TNNT2), cardiac myosin binding protein-C (MYBPC3), cardiac troponin I, -...
متن کاملNoonan's cardiomyopathy: a non-hypertrophic variant.
OBJECTIVE To describe the association of the Noonan's phenotype and a primary, familial non-hypertrophic cardiomyopathy with restrictive pathophysiology. DESIGN Observational study. SETTING Tertiary cardiac referral centre. PATIENTS Affected family members. METHODS Two generations of a single family were examined and a description of the clinical characteristics and electrocardiographic...
متن کاملPrevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype.
OBJECTIVES The purpose of this study was to determine the prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy (HCM) with "restrictive phenotype" characterized by restrictive filling and minimal or no left ventricular hypertrophy. BACKGROUND Hypertrophic cardiomyopathy is a heterogeneous myocardial disorder with a broad spectrum of clinical presentation and morp...
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ژورنال
عنوان ژورنال: Circulation: Genomic and Precision Medicine
سال: 2020
ISSN: 2574-8300,2574-8300
DOI: 10.1161/circgen.120.003039