1.
Clin Genet
; 92(4): 444-446, 2017 10.
Artículo
en Inglés
| MEDLINE
| ID: mdl-28401540
Asunto(s)
Aneurisma de la Aorta Torácica/genética , Disección Aórtica/genética , Proteínas de Unión al Calcio/genética , Quinasa de Cadena Ligera de Miosina/genética , Anciano , Disección Aórtica/fisiopatología , Aneurisma de la Aorta Torácica/fisiopatología , Codón sin Sentido/genética , Femenino , Haploinsuficiencia/genética , Humanos , Masculino , Anamnesis , Persona de Mediana Edad , Linaje
2.
Clin Genet
; 88(2): 101-13, 2015 Aug.
Artículo
en Inglés
| MEDLINE
| ID: mdl-25307320
RESUMEN
Sudden cardiac death (SCD) has an enormous impact on those who are left behind, evoking strong feelings of anxiety and incomprehension because such a dramatic event was not anticipated. Moreover, over the last decade a prominent genetic contribution to the pathogenesis of SCD has been unveiled. As many inherited cardiac diseases show an autosomal dominant pattern of inheritance, the risk of carrying the same inherited predisposition is a real concern for the relatives. In this article, we discuss the major causes of primary electrical disorders, cardiomyopathies and thoracic aortic dissection and address issues in genotype-phenotype correlation, personalized management and cardiogenetic counselling.