Recommendations for the Management of Cardiomyopathy Mutation Carriers: Evidence, Doubts, and Intentions

• Tipo: Outra Publicação em Revista Científica Internacional
• Data: 2023

Autores

Couto, JF (Autor) Outra; Martins, E (Autor) FMUP

Revista

Título: Journal of Clinical Medicine

Vol. 64

Página Final: 4706

ISSN: 2077-0383

Editora: MDPI

Indexação

ISI Web of Knowledge - 0 Citações

Scopus - 0 Citações

Outras Informações

ID Authenticus: P-00Y-T82

DOI: 10.3390/jcm12144706

Abstract (EN): Cardiomyopathies may be hereditary and associated with a familial predilection. Morbidity and mortality can be caused by heart failure, sudden death, or arrhythmias. Sometimes these events are the first manifestations of cardiovascular disease. Hypertrophic cardiomyopathy and arrhythmogenic cardiomyopathy are perhaps most thoroughly studied in that context. Dilated cardiomyopathy, although most frequently of secondary etiology, has a significant familial cluster. Noncompaction of the left ventricle can sometimes be seen in healthy individuals and, in other instances, is associated with severe LV dysfunction. Genetic testing is of utmost importance, since it might allow for the identification of individuals carrying mutations predisposing them to these diseases. In addition, certain variants may benefit from tailored therapeutic regimens, and thus searching for a causal mutation can impact clinical practice and is recommended for all patients with HCM or ACM. Patients with DCM and positive family history should be included as well. Regular follow-ups are advised, even in those with negative phenotypes, because these disorders are often age dependent. During pregnancy and in the case of athletes, special consideration should be made as well. We intend to summarize the most current evidence regarding their management.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 18