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Hypertrophe Kardiomyopathie

Eine heterogene und komplexe Erkrankung

Hypertrophic cardiomyopathy

A heterogeneous and complex disease

  • Übersicht
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Zeitschrift für Herz-,Thorax- und Gefäßchirurgie Aims and scope

Zusammenfassung

Die hypertrophe Kardiomyopathie (HCM) ist eine symptomatisch, phänotypisch und genotypisch äußerst heterogene Erkrankung. Eine gefürchtete, folgenschwere Komplikation der HCM ist der „sudden cardiac death“ (SCD). Die wiederholte Evaluation des Phänotyps und die Risikostratifizierung für den SCD sind essenziell für die optimale Therapie der betroffenen Patienten. Da die HCM autosomal-dominant vererbt wird, sollten zumindest Verwandte ersten Grades auf das Vorliegen einer HCM untersucht werden. Moderne genetische Techniken, weiterführende Geno-Phänotyp-Korrelationsstudien und die Analyse klinischer Daten in informativen HCM-Familien werden in Zukunft erlauben, HCM-Patienten mit hohem SCD-Risiko besser zu identifizieren.

Abstract

Hypertrophic cardiomyopathy (HCM) is a very heterogeneous disorder with respect to symptoms, phenotype, and genotype. Sudden cardiac death (SCD) can be the first manifestation of HCM. Repeated evaluation of the cardiac phenotype and risk stratification for SCD are essential for optimal patient management. HCM is inherited as an autosomal-dominant trait; at least first-line relatives of index patients should be screened for the presence of HCM. Modern genetic techniques, genotype-phenotype correlation studies, and the analysis of clinical data from informative HCM families will help in the future to better identify HCM patients at high risk of SCD.

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PD Dr. Dagmar Keller, Jahrgang 1968, ist seit 2001 Fachärztin für Innere Medizin und seit 2005 für Kardiologie. 2006 Habilitation in Kardiologie. Seit August 2003 ist Dagmar Keller Forschungsgruppenleiterin der Kardiogenetik am Universitätsspital Basel und seit März 2008 dort Leitende Ärztin der Interdisziplinären Notfallstation Medizin (80%) sowie Oberärztin der Abteilung für Kardiologie (20%).

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  1. Interdisziplinäre Notfallstation und Klinik für Kardiologie, Universitätsspital Basel, Petersgraben 4, 4031, Basel, Schweiz

    D.I. Keller

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Keller, D. Hypertrophe Kardiomyopathie. Z Herz- Thorax- Gefäßchir 23, 74–81 (2009). https://doi.org/10.1007/s00398-009-0702-4

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  • DOI: https://doi.org/10.1007/s00398-009-0702-4

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