[Hypertrophic cardiomyopathy]

Herz. 2005 Sep;30(6):550-7. doi: 10.1007/s00059-005-2731-4.
[Article in German]

Abstract

Hypertrophic cardiomyopathy (HCM) counts as one of primary diseases emanating from the myocardium. In approximately 60% of the cases a familial autosomal dominant trait of disease inheritance was determined. In the majority of the cases a mutation in one of the known 14 disease-causing genes could be proven. With a prevalence of 0.2% HCM is one of the most common genetic heart diseases. The genetic causes, the clinical manifestations as well as the clinical progression are heterogeneous. At present, echocardiography is the most important diagnostic tool. It remains to be seen how the results from magnetic resonance imaging and molecular genetic diagnosis will have impact on the disease management in the future. The prognosis varies according to the localization, the degree of hypertrophy and, in some cases, on the underlying genetic mutation. Sudden death (SD) is a significant risk of the disease in young people. A systematic stratification of patients at a higher risk of SD is desperately needed. The implantation of an AICD is the most effective preventive measure against SD. The basis medication therapy of symptomatic patients uses calcium antagonists or beta-blockers. In high-degree heart failure the typical therapy is applied mainly in combination with beta-blockers and, if indicated, also with antiarrhythmics. When a high degree of outflow obstruction is present, transcoronary ablation of septum hypertrophy (TASH; synonym: percutaneous transluminal septal myocardial ablation [PTSMA]) or myectomy Ercan be performed. Heart transplantion is performed only in very few patients with terminal heart failure. Even though HCM is one of the best-documented genetically based heart diseases, only a few prospective studies and registries have been established, which have produced guidelines and recommendations for diagnostics and therapy. The ACC/ESC Expert Consensus Document is very helpful in this respect. Therefore, there is still a great need for systematic prospective analyses in large patient populations.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Adrenergic beta-Antagonists / therapeutic use*
  • Cardiomyopathy, Hypertrophic / diagnosis*
  • Cardiomyopathy, Hypertrophic / epidemiology
  • Cardiomyopathy, Hypertrophic / genetics
  • Cardiomyopathy, Hypertrophic / therapy*
  • Humans
  • Practice Guidelines as Topic
  • Practice Patterns, Physicians'
  • Prevalence
  • Prognosis
  • Risk Assessment / methods*
  • Risk Factors
  • Treatment Outcome

Substances

  • Adrenergic beta-Antagonists