A Novel Missense Variant in MYL2 Gene Associated with Hypertrophic Cardiomyopathy Showing High Incidence of Restrictive Physiology.

Marzia De Bortoli,Riccardo Vio,Cristina Basso,Martina Calore,Giovanni Minervini,Annalisa Angelini,Paola Melacini,Libero Vitiello,Giovanni Vazza,Gaetano Thiene,Silvio Tosatto,Domenico Corrado,Sabino Iliceto,Alessandra Rampazzo,Chiara Calore

CIRCULATION-GENOMIC AND PRECISION MEDICINE（2020）

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摘要

Hypertrophic cardiomyopathy (HCM) is the most frequent inherited cardiac disease and its prognosis can be severely worsened by the presence of restrictive filling pattern and atrial fibrillation (AF). Here we report a novel, highly penetrant variant in a multigenerational HCM family showing high incidence of restrictive filling pattern and AF.

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atrial fibrillation,cardiomyopathies,disease,genes,prognosis

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