A new collaborative research paper titled Arrhythmia and impaired myocardial function in heritable thoracic aortic disease: An international retrospective cohort study has been published in VASCERN Special Issue of the European Journal of Medical Genetics. It is co-authored by members and affiliated partners of the VASCERN Heritable Thoracic Aortic Diseases Working Group (HTAD-WG) including Prof. Julie De Backer (Chair of HTAD-WG, Prof. Guillaume Jondeau (Co-Chair of HTAD-WG), Prof. Yskert Von Kodolitsch (HTAD WG member), Dr. Gisela Teixidó (HTAD WG member), Arturo Evangelista (HTAD WG member), Maryanne Caruana (HTAD Affiliated Partner), Lisa Lauren Buttigieg (HTAD Affiliated Partner).
The prevalence of impaired myocardial function and/or arrhythmia in the HTAD remains unknown. This study aimed to provide a better understanding of the prevalence of impaired myocardial function and/or arrhythmia and the clinical characteristics of affected patients. Data from HTAD patients with non-aortic cardiac diseases were analysed, and patients aged 12 and above were screened for the presence of specific genes.
The results: ‘Non-aortic cardiac disease was reported 142 times in 101 patients (3.1%) (age 37 [range 12–77] years, 39% female): 88 patients carrying an FBN1 PV/LPV and 13 carrying a PV/LPV in one of the TGF-β signaling genes. Neither impaired myocardial function nor arrhythmia was reported in screened patients carrying a PV/LPV in ACTA2. Among the 142 reported non-aortic cardiac diseases, 68 (48%) were impaired myocardial function, 47 (33%) were AF/AFL and 27 (19%) were VT/VF/SCD. Among the patients with non-aortic cardiac disease, prior cardiac surgery was noted in 80% and severe valvular disease (valvular surgery or severe valvular regurgitation) in 58%, while 18% of the patients developed non-aortic cardiac disease in the absence of any of the latter.’ These findings highlight the importance of recognising non-aortic cardiac disease as a potentially serious condition, particularly in young patients.
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We applaud the team on this important publication, which emphasises the need for early detection of impaired myocardial function and/or arrhythmia in HTAD patients.
Reference: Anthony Demolder, Lisa Bianco, Maryanne Caruana, Elena Cervi, Arturo Evangelista, Guillaume Jondeau, Lisa Lauren Buttigieg, Ángela López-Sainz, Elena Montañés Delmás, Alessandro Pini, Anna Sabaté-Rotés, Katalin Szöcs, Maria Tchitchinadze, Gisela Teixidó-Tura, Yskert von Kodolitsch, Laura Muiño-Mosquera, and Julie De Backer (2022). Arrhythmia and impaired myocardial function in heritable thoracic aortic disease: An international retrospective cohort study. European Journal of Medical Genetics.