Phenotypic Expression and Outcomes in Individuals With Rare Genetic Variants of Hypertrophic Cardiomyopathy

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. The goal of this study was to compare lifetime outcomes and cardiovascular phenotypes according to the presence o...

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Veröffentlicht in:	Journal of the American College of Cardiology 2021-09, Vol.78 (11), p.1097-1110
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Aged Cardiomyopathy, Hypertrophic - diagnostic imaging Cardiomyopathy, Hypertrophic - genetics Cohort Studies Deep Learning Female Heart Ventricles - diagnostic imaging Humans Magnetic Resonance Imaging Male Middle Aged Original Investigation Penetrance Phenotype Sarcomeres - genetics
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