Genotype-Phenotype Insights of Inherited Cardiomyopathies-A Review.
Medicina (Kaunas)
; 60(4)2024 Mar 27.
Article
en En
| MEDLINE
| ID: mdl-38674189
ABSTRACT
Background:
Cardiomyopathies (CMs) represent a heterogeneous group of primary myocardial diseases characterized by structural and functional abnormalities. They represent one of the leading causes of cardiac transplantations and cardiac death in young individuals. Clinically they vary from asymptomatic to symptomatic heart failure, with a high risk of sudden cardiac death due to malignant arrhythmias. With the increasing availability of genetic testing, a significant number of affected people are found to have an underlying genetic etiology. However, the awareness of the benefits of incorporating genetic test results into the care of these patients is relatively low.Aim:
The focus of this review is to summarize the current basis of genetic CMs, including the most encountered genes associated with the main types of cardiomyopathies hypertrophic, dilated, restrictive arrhythmogenic, and non-compaction. Materials andMethods:
For this narrative review, we performed a search of multiple electronic databases, to select and evaluate relevant manuscripts.Results:
Advances in genetic diagnosis led to better diagnosis precision and prognosis prediction, especially with regard to the risk of developing arrhythmias in certain subtypes of cardiomyopathies.Conclusions:
Implementing the genomic information to benefit future patient care, better risk stratification and management, promises a better future for genotype-based treatment.Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Cardiomiopatías
Límite:
Humans
Idioma:
En
Año:
2024
Tipo del documento:
Article