Prognostic role of exercise intensity in familial Filamin C truncating variants
Flavio Luciano Ribichini,
Marta Gigli,
Marco Merlo,
Gianfranco Sinagra,
Luisa Mestroni,
Matteo Dal Ferro,
Maria Perotto,
Irena Tavčar,
Martina Setti,
Giulio Savonitto,
Alessia Paldino,
Samuel Furlan
Affiliations
Flavio Luciano Ribichini
Division of Cardiology, University of Verona Faculty of Medicine and Surgery, Verona, Italy
Marta Gigli
Cardiothoracovascular Department, Center for Diagnosis and Treatment of Cardiomyopathies, Azienda Sanitaria Universitaria Giuliano-Isontina, University of Trieste; European Reference Network for Rare, Low-Prevalence, and Complex Diseases of the Heart (ERN GUARD-Heart), Trieste, Italy
Marco Merlo
Cardiothoracovascular Department, Center for Diagnosis and Treatment of Cardiomyopathies, Azienda Sanitaria Universitaria Giuliano-Isontina, University of Trieste; European Reference Network for Rare, Low-Prevalence, and Complex Diseases of the Heart (ERN GUARD-Heart), Trieste, Italy
Gianfranco Sinagra
Cardiothoracovascular Department, Center for Diagnosis and Treatment of Cardiomyopathies, Azienda Sanitaria Universitaria Giuliano-Isontina, University of Trieste; European Reference Network for Rare, Low-Prevalence, and Complex Diseases of the Heart (ERN GUARD-Heart), Trieste, Italy
Luisa Mestroni
Molecular Genetics, Cardiovascular Institute and Adult Medical Genetics Program, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA
Matteo Dal Ferro
Cardiothoracovascular Department, Center for Diagnosis and Treatment of Cardiomyopathies, Azienda Sanitaria Universitaria Giuliano-Isontina, University of Trieste; European Reference Network for Rare, Low-Prevalence, and Complex Diseases of the Heart (ERN GUARD-Heart), Trieste, Italy
Maria Perotto
Cardiothoracovascular Department, Center for Diagnosis and Treatment of Cardiomyopathies, Azienda Sanitaria Universitaria Giuliano-Isontina, University of Trieste; European Reference Network for Rare, Low-Prevalence, and Complex Diseases of the Heart (ERN GUARD-Heart), Trieste, Italy
Irena Tavčar
Cardiothoracovascular Department, Center for Diagnosis and Treatment of Cardiomyopathies, Azienda Sanitaria Universitaria Giuliano-Isontina, University of Trieste; European Reference Network for Rare, Low-Prevalence, and Complex Diseases of the Heart (ERN GUARD-Heart), Trieste, Italy
Martina Setti
Cardiothoracovascular Department, Center for Diagnosis and Treatment of Cardiomyopathies, Azienda Sanitaria Universitaria Giuliano-Isontina, University of Trieste; European Reference Network for Rare, Low-Prevalence, and Complex Diseases of the Heart (ERN GUARD-Heart), Trieste, Italy
Giulio Savonitto
Cardiothoracovascular Department, Center for Diagnosis and Treatment of Cardiomyopathies, Azienda Sanitaria Universitaria Giuliano-Isontina, University of Trieste; European Reference Network for Rare, Low-Prevalence, and Complex Diseases of the Heart (ERN GUARD-Heart), Trieste, Italy
Alessia Paldino
Cardiothoracovascular Department, Center for Diagnosis and Treatment of Cardiomyopathies, Azienda Sanitaria Universitaria Giuliano-Isontina, University of Trieste; European Reference Network for Rare, Low-Prevalence, and Complex Diseases of the Heart (ERN GUARD-Heart), Trieste, Italy
Samuel Furlan
Cardiothoracovascular Department, Center for Diagnosis and Treatment of Cardiomyopathies, Azienda Sanitaria Universitaria Giuliano-Isontina, University of Trieste; European Reference Network for Rare, Low-Prevalence, and Complex Diseases of the Heart (ERN GUARD-Heart), Trieste, Italy
Background Truncating variants in the Filamin C (FLNCtv) gene are causative of highly arrhythmogenic cardiomyopathies. Guidelines remain controversial concerning competitive and high-intensity sports for FLNCtv carriers. Indeed, the impact of high-intensity exercise on individuals carrying these variants remains poorly understood.Methods and results This retrospective study analysed 45 probands and relatives carrying FLNCtv, collecting data on previous physical activity. Over a mean follow-up of 4.9±0.6 years, 9 individuals (20%) experienced life-threatening arrhythmias (LTA). No significant association was found between history of higher-intensity exercise and increased LTA risk (OR 1.442; 95% CI 0.321 to 6.467; p=0.633), left ventricular systolic dysfunction (OR 0.505; 95% CI 0.143 to 1.791; p=0.290) or right ventricular dysfunction (OR 3.333; 95% CI 0.263 to 42.212; p=0.353). However, three phenotype-positive subjects (7%), mostly with dilated cardiomyopathy, experienced LTA during intense exercise.Conclusions Over a mean follow-up of 5 years, high-intensity exercise did not appear to be associated with an increased risk of LTA or structural cardiac disease in FLNCtv carriers. However, we report LTA in already affected subjects during intense exercise. These findings indicate that further investigations may lead to a re-evaluation of exercise recommendations for phenotype-negative carriers and highlight the importance of larger population-based studies on this topic.
