Arrhythmia and impaired myocardial function in heritable thoracic aortic disease: An international retrospective cohort study

• Published in: European journal of medical genetics 2022-06, Vol.65 (6), p.104503-104503, Article 104503
• Main Authors: Demolder, Anthony, Bianco, Lisa, Caruana, Maryanne, Cervi, Elena, Evangelista, Arturo, Jondeau, Guillaume, Buttigieg, Lisa Lauren, López-Sainz, Ángela, Delmás, Elena Montañés, Pini, Alessandro, Sabaté-Rotés, Anna, Szöcs, Katalin, Tchitchinadze, Maria, Teixidó-Tura, Gisela, von Kodolitsch, Yskert, Muiño-Mosquera, Laura, De Backer, Julie
• Format: Article
• Language: English
• ISSN: 1769-7212; 1878-0849
• DOI: 10.1016/j.ejmg.2022.104503

Heritable thoracic aortic diseases (HTAD), typically entailing aortic complications, can be caused by pathogenic variants or likely pathogenic variants (PV/LPVs) in several genes, including fibrillin1 (FBN1), Actin Alpha2 (ACTA2) and genes encoding components of the transforming growth factor (TGF)-β signaling pathway. In addition to aortic complications, non-aortic cardiac disease such as impaired myocardial function and/or arrhythmia have been increasingly reported, mainly in Marfan syndrome with underlying FBN1 PV/LPVs and are acknowledged as additional causes of morbidity and mortality. The prevalence of these manifestations in the various HTAD entities is largely unknown. This international multicentre retrospective study collected data on patients with HTAD presenting non-aortic cardiac disease. A total of 9 centers from 7 different countries participated. Patients 12 years or older carrying a PV/LPV in one of the following genes: FBN1, TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD3 and ACTA2 were screened. Non-aortic cardiac disease included impaired myocardial function and/or arrhythmia. Impaired myocardial function was defined as (a)symptomatic reduced ejection fraction (EF