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The Role of Multiple Mutations in Hypertrophic Cardiomyopathy – A New Universe to Discover: Proof of Guiltiness of the Genetic Burden in Worsening Hypertrophic Cardiomyopathy Natural History.

Authors :
Galati, Giuseppe
Germanova, Olga
Pedretti, Roberto Franco Enrico
Source :
Cardiology. 2024, Vol. 149 Issue 5, p451-454. 4p.
Publication Year :
2024

Abstract

Hypertrophic cardiomyopathy (HCM) is a common inherited cardiovascular disease that affects millions of people worldwide. While most HCM patients have a normal life expectancy, some experience serious complications such as heart failure and sudden cardiac death. The role of multiple gene mutations in HCM has been debated, but recent studies have shown that the presence of multiple mutations is associated with worse outcomes. A new study on Asian HCM patients found that the combination of calcium-channel and sarcomere gene mutations was significantly associated with a worse prognosis, particularly in terms of heart failure progression. The study also identified sex differences in HCM patients with double mutations, with females having less hypertrophy and higher ejection fraction. Overall, the research suggests that HCM is a genetically complex disease, and further studies are needed to understand the impact of different gene mutations on the disease's outcome. [Extracted from the article]

Details

Language :
English
ISSN :
00086312
Volume :
149
Issue :
5
Database :
Academic Search Index
Journal :
Cardiology
Publication Type :
Academic Journal
Accession number :
180117629
Full Text :
https://doi.org/10.1159/000539360