Article
Phenotypic Expression and Outcomes in Individuals With Rare Genetic Variants of Hypertrophic Cardiomyopathy.
Journal of the American College of Cardiology - 14 Sept 2021
de Marvao Antonio, McGurk Kathryn A, Zheng Sean L, Thanaj Marjola, Bai Wenjia, Duan Jinming, Biffi Carlo, Mazzarotto Francesco, Statton Ben, Dawes Timothy J W, Savioli Nicolò, Halliday Brian P, Xu Xiao, Buchan Rachel J, Baksi A John, Quinlan Marina, Tokarczuk Paweł, Tayal Upasana, Francis Catherine, Whiffin Nicola, Theotokis Pantazis I, Zhang Xiaolei, Jang Mikyung, Berry Alaine, Pantazis Antonis, Barton Paul J R, Rueckert Daniel, Prasad Sanjay K, Walsh Roddy, Ho Carolyn Y, Cook Stuart A, Ware James S, O'Regan Declan P
Abstract excerpt
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is caused by rare variants in sarcomere-encoding genes, but little is known about the clinical significance of these variants in the general population. OBJECTIVES: The goal of this study was to compare lifetime outcomes and cardiovascular phenotypes according to the presence of rare variants in sarcomere-encoding genes among middle-aged adults. METHODS: This study...
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