Molecular genetics of cardiomyopathy: changing times, shifting paradigms

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dc.contributor.authorMoolman-Smook, Johanna C.
dc.contributor.authorMayosi, Bongani M.
dc.contributor.authorBrink, Paul A.
dc.contributor.authorCorfield, Valerie A.
dc.date.accessioned2012-01-23T12:09:19Z
dc.date.available2012-01-23T12:09:19Z
dc.date.issued2003-06
dc.descriptionThe original publication is available at http://www.cvja.co.za/en_ZA
dc.descriptionIncludes bibliography
dc.description.abstractCongestive 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.en_ZA
dc.description.versionPublishers' versionen_ZA
dc.format.extentp. 145-155 : ill.
dc.identifier.citationMoolman-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.en_ZA
dc.identifier.issn1680-0745 (online)
dc.identifier.issn1995-1892 (print)
dc.identifier.urihttp://hdl.handle.net/10019.1/19341
dc.language.isoen_ZAen_ZA
dc.publisherClinics Cardiv Publishingen_ZA
dc.rights.holderCardiovascular Journal of Africa holds the copyrighten_ZA
dc.subjectCardiomyopathyen_ZA
dc.subjectCongestive heart failure -- Causes -- Developing countriesen_ZA
dc.subjectNon-ischaemic cause of heart failureen_ZA
dc.subjectPrimary dysfunction of the heart muscleen_ZA
dc.subjectAetiological principlesen_ZA
dc.subjectCardiomyopathy -- Pathogenesis -- South Africa -- Research
dc.subjectDiseases -- Causes and theories of causation -- Research
dc.subjectCardiomyopathy -- Etiology
dc.titleMolecular genetics of cardiomyopathy: changing times, shifting paradigmsen_ZA
dc.typeArticleen_ZA
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