Article
Genotype-Phenotype Taxonomy of Hypertrophic Cardiomyopathy.
Circulation. Genomic and precision medicine - 1 Dec 2023
Curran Lara, de Marvao Antonio, Inglese Paolo, McGurk Kathryn A, Schiratti Pierre-Raphaël, Clement Adam, Zheng Sean L, Li Surui, Pua Chee Jian, Shah Mit, Jafari Mina, Theotokis Pantazis, Buchan Rachel J, Jurgens Sean J, Raphael Claire E, Baksi Arun John, Pantazis Antonis, Halliday Brian P, Pennell Dudley J, Bai Wenjia, Chin Calvin W L, Tadros Rafik, Bezzina Connie R, Watkins Hugh, Cook Stuart A, Prasad Sanjay K, Ware James S, O'Regan Declan P
Abstract excerpt
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is an important cause of sudden cardiac death associated with heterogeneous phenotypes, but there is no systematic framework for classifying morphology or assessing associated risks. Here, we quantitatively survey genotype-phenotype associations in HCM to derive a data-driven taxonomy of disease expression. METHODS: We enrolled 436 patients with HCM (median age, 60...
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