Hypertrophe kardiomyopathie - Genetik und molekulargenetische diagnostik

A. Hafer, B. Mayer, H. Schunkert, Jeanette Erdmann*

*Korrespondierende/r Autor/-in für diese Arbeit

Abstract

Hypertrophic cardiomyopathy (HCM) is the second most common cardiomyopathy after dilated cardiomyopathy (DCM), the prevalence of the disease is reported to be about 1/500 (1) to 1/2.500. Echocardiography has the most established diagnostic value for HCM. The clinical course is typically variable and the disease needs a differentiated therapy in any phase of disease. Only a minority of patients with HCM is at high risk for cardiac arrest, it is important to identify this subgroup. So far more than 300 mutations in 14 disease causing genes are identified but in only 50% of the patients with HCM the genetic defect is found. This is a challenge for the molecular genetic diagnostic. The current data are not sufficient to establish phenotype-genotype correlations with confidence. Systematic prospective clinical and molecular genetic studies will be required to elucidate the genetics of the disease. Now the 'Kompetenznetz Herzinsuffizienz' allows systematic molecular testing in a temporal and financially maintainable effort. The current development of chip-based DNA-sequencing may provide a rapid and sensitive technique to define the molecular cause of HCM in a single proband in the future.

Titel in ÜbersetzungGenetics and molecular genetic diagnostic of hypertrophic cardiomyopathy
OriginalspracheDeutsch
ZeitschriftMedizinische Welt
Jahrgang58
Ausgabenummer1-2
Seiten (von - bis)23-26
Seitenumfang4
ISSN0025-8512
PublikationsstatusVeröffentlicht - 01.2007

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