Genotype-Phenotype Taxonomy of Hypertrophic Cardiomyopathy.
Lara CurranAntonio de MarvaoPaolo IngleseKathryn Anne McGurkPierre-Raphaël SchirattiAdam ClementSean L ZhengSurui LiChee Jian PuaMit ShahMina JafariPantazis I TheotokisRachel J BuchanSean Joseph JurgensClaire E RaphaelArun John BaksiAntonis PantazisBrian P HallidayDudley John PennellWenjia BaiCalvin Woon-Loong ChinRafik TadrosConnie R BezzinaHugh C WatkinsStuart Alexander CookSanjay K PrasadJames Simon WareDeclan P O'ReganPublished in: Circulation. Genomic and precision medicine (2023)
We report a data-driven taxonomy of HCM for identifying groups of patients with similar morphology while preserving a continuum of disease severity, genetic risk, and outcomes. This approach will be of value in understanding the causes and consequences of disease diversity.