The role of genetics in cardiovascular disease: arrhythmogenic cardiomyopathy.
Eur Heart J
; 41(14): 1393-1400, 2020 04 07.
Article
en En
| MEDLINE
| ID: mdl-32191298
ABSTRACT
Arrhythmogenic cardiomyopathy (ACM) is a heritable cardiomyopathy characterized by frequent ventricular arrhythmias and progressive ventricular dysfunction. Risk of sudden cardiac death is elevated in ACM patients and can be the presenting symptom particularly in younger individuals and athletes. This review describes current understanding of the genetic architecture of ACM and molecular mechanisms of ACM pathogenesis. We consider an emerging threshold model for ACM inheritance in which multiple factors including pathogenic variants in known ACM genes, genetic modifiers, and environmental exposures, particularly exercise, are required to reach a threshold for disease expression. We also review best practices for integrating genetics-including recent discoveries-in caring for ACM families and emphasize the utility of genotype for both management of affected individuals and predictive testing in family members.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Enfermedades Cardiovasculares
/
Displasia Ventricular Derecha Arritmogénica
/
Cardiomiopatías
Tipo de estudio:
Etiology_studies
/
Guideline
/
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
Eur Heart J
Año:
2020
Tipo del documento:
Article
País de afiliación:
Estados Unidos