Molecular genetics of cardiomyopathy: changing times, shifting paradigms
Date
2003-06
Authors
Moolman-Smook, Johanna C.
Mayosi, Bongani M.
Brink, Paul A.
Corfield, Valerie A.
Journal Title
Journal ISSN
Volume Title
Publisher
Clinics Cardiv Publishing
Abstract
Congestive heart failure is a major problem in developed and developing countries alike. Primary dysfunction of the heart muscle accounts for a significant proportion of patients with a non-ischaemic cause of heart failure. Application of genetic techniques has facilitated identification of some molecular causes of the inherited form of these diseases, dramatically increasing our understanding of the pathogenesis of these primary, previously termed ‘idiopathic’, cardiomyopathies over the last few
decades. Knowledge of the different causes is beginning to coalesce into aetiological principles underlying the clinically distinguished cardiomyopathies. Hypertrophic cardiomyopathy (HCM) now appears to be a disease caused by a dysfunctional sarcomere, dilated cardiomyopathy
(DCM), a disease of myocytic structural instability, and arrhythmogenic right ventricular cardiomyopathy,
a disease of accelerated myocyte death. The aetiology of both HCM and DCM probably also involves cardiac energy imbalances, while additional factors modify the clinical expression in all cardiomyopathies. Even though our knowledge of the genetic aetiology of the cardiomyopathies
is still incomplete, it already has relevant clinical significance. Elucidation of the full genetic contribution
to the development and progression of the cardiomyopathies represents a new challenge in the study of
these diseases, and will undoubtedly lead to new therapeutic approaches in the not-too-distant future.
Description
The original publication is available at http://www.cvja.co.za/
Includes bibliography
Includes bibliography
Keywords
Cardiomyopathy, Congestive heart failure -- Causes -- Developing countries, Non-ischaemic cause of heart failure, Primary dysfunction of the heart muscle, Aetiological principles, Cardiomyopathy -- Pathogenesis -- South Africa -- Research, Diseases -- Causes and theories of causation -- Research, Cardiomyopathy -- Etiology
Citation
Moolman-Smook, J. C., Mayosi, B. M., Brink, P. A. & Corfield, V. A. 2003. Molecular genetics of cardiomyopathy: changing times, shifting paradigms. Cardiovascular Journal of South Africa, 14(3), 145-155.