Article
The Burden of Early Phenotypes and the Influence of Wall Thickness in Hypertrophic Cardiomyopathy Mutation Carriers: Findings From the HCMNet Study.
JAMA cardiology - 1 Apr 2017
Ho Carolyn Y, Day Sharlene M, Colan Steven D, Russell Mark W, Towbin Jeffrey A, Sherrid Mark V, Canter Charles E, Jefferies John L, Murphy Anne M, Cirino Allison L, Abraham Theodore P, Taylor Matthew, Mestroni Luisa, Bluemke David A, Jarolim Petr, Shi Ling, Sleeper Lynn A, Seidman Christine E, Orav E John
Abstract excerpt
Importance: Sarcomere mutations and left ventricular (LV) hypertrophy (LVH) are cardinal features of hypertrophic cardiomyopathy (HCM). However, little is known about the full spectrum of phenotypic manifestations or how LVH influences disease expression. Objectives: (1) To characterize and assess phenotypic burden in sarcomere mutation carriers (genotype positive [G+]) and (2) to investigate the correlation...
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