Autor(es):
Sousa, Alexandra ; Moldovan, Oana ; Lebreiro, Ana ; Bourbon, Mafalda ; António, Natália ; Rato, Quitéria ; Rodrigues, Patrícia ; Toste, Alexandra ; Gonçalves Rocha, Miguel ; Oliveira, Renata ; Granja, Sofia ; Cruz, Cristina ; Almeida, Jorge ; Martins, Elisabete
Data: 2020
Identificador Persistente: http://hdl.handle.net/10400.16/2712
Origem: Repositório Científico da Unidade Local de Saúde de Santo António (ULSSA)
Assunto(s): Inherited cardiovascular diseases; Genetic testing; Doenças cardiovasculares hereditárias; Testes genéticos
Descrição
In recent years, the importance of genetic causes of cardiovascular diseases has been increasingly recognized, as the result of significant advances in molecular diagnosis techniques. This growing knowledge has enabled the identification of new phenotypes and the subclassification of clinical syndromes, impacting the therapeutic approach and genetic counseling offered to affected families. This paper describes the state of the art of genetic testing in the main cardiovascular diseases, aiming to provide a useful tool to help cardiologists and other health professionals involved in the care of individuals with hereditary heart diseases and their families.
