학술논문

Clinical genetic aspects of cardiomyopathies
Document Type
article
Source
Journal of the Practice of Cardiovascular Sciences, Vol 1, Iss 2, Pp 120-127 (2015)
Subject
Genetic heterogeneity
penetrance
phenocopy
variable expression
Medicine
Surgery
RD1-811
Diseases of the circulatory (Cardiovascular) system
RC666-701
Language
English
ISSN
2395-5414
2454-2830
Abstract
Cardiomyopathies are a major cause of heart disease. Not only the patients, but also their families are severely burdened by these illnesses. In the past decade, studies revealed the heterogeneity of these diseases in terms of clinical presentation, as well as their genetics. Studies done in the last few decades revealed a new concept of complex manifestation of cardiomyopathies with different heterogeneity level, penetration, and inheritance. The incomplete penetrance, genetic heterogeneity, and variable expression in cardiomyopathies paradoxically raise hopes that the development of novel disease modifying therapies may be achievable.