Titin and the mystery of cardiomyopathy incidence

2025/06/18 by Sean J. Jurgens, Roddy Walsh · 1 voice
Medicine · #Cardiomyopathy and Myosin Studies #Viral Infections and Immunology Research #Cardiovascular Effects of Exercise

paper · doi:10.1093/eurheartj/ehaf470

openalex publication_date 2025/06/18 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/22

Abstract

Truncating variants affecting constitutive exons in TTN are a major risk factor for DCM. Penetrance may be influenced by additional genetic risk factors such as DCM polygenic score as well as lifestyle factors and clinical comorbidities (dependent on age and sex)—the proportion of cases with these risk factors is highlighted for males (blue) and females (yellow) with early (<30 years) and late (>60 years) disease onset.

Discussions

• "Titin and the mystery of cardiomyopathy incidence" - our editorial commentary on the recent mega-study of TTN-related dilated cardiomyopathy, with @seanjosephjurgens.bsky.social @escardio.bsky.social [bsky, 3 points, 1 comments]

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