Zusammenfassung
Die Kardiomyopathien stellen eine breit gefächerte und klinisch wichtige Gruppe von Erkrankungen dar, deren wesentliches Merkmal eine krankhafte Veränderung des Herzmuskels selbst ist. Sie münden häufig in schwerer Herzinsuffizienz oder zeigen Arrhythmien bis zum plötzlichen Herztod. Die klinische und morphologische Diversität der unterschiedlichen Kardiomyopathien reflektiert möglicherweise das breite Spektrum verschiedenster zugrunde liegender molekularer Ursachen, eine große genetische Heterogenität oder das Vorhandensein von weiteren Faktoren, die den Krankheitsausbruch, den Verlauf und die Prognose beeinflussen. Der individiuelle Phänotyp eines Patienten kann unter Umständen als die Summe und Interaktion von zugrunde liegender Mutation mit anderen genetischen Faktoren plus bestimmten Umweltfaktoren sein. Große Fortschritte wurden in den letzten Jahren bezüglich des pathogenetischen Verständnisses von Kardiomyopathien vor allem durch molekulare Techniken erzielt. Trotzdem müssen die wissenschaftlichen Untersuchung bei Patienten mit Kardiomyopathien weiter voranschreiten, um eine Fortentwicklung unseres Verständnisses als unabdingbare Voraussetzung für möglicherweise ätiologisch orientierte Therapieformen zu ermöglichen.
Abstract
Cardiomyopathies are an important and diverse group of heart muscle diseases in which the heart muscle itself is structural or functional abnormal. This often results in severe heart failure accompanied by arrhythmias and/or sudden death. Clinical and morphological diversity of cardiomyopathies can reflect the broad spectrum of distinct underlying molecular causes or genetic heterogeneity. In addition, modifying genes, life style and additional factors were reported to influence onset of disease, disease progression and prognosis. The individual patient’s phenotype may reflect a summation and/or interaction of the underlying mutation with other genetic or environmental factors. During the last years major advances have been made in the understanding of the molecular and genetic basis of this type of disease. Nevertheless, much more progress in the identification of underlying mutations, susceptibility genes and modifier genes is important and indispensable for the development of new etiology orientated forms of therapy.
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Pankuweit, S., Richter, A., Ruppert, V. et al. Klassifikation, genetische Prädisposition und Risikofaktoren für die Entwicklung einer Kardiomyopathie. Internist 49, 441–447 (2008). https://doi.org/10.1007/s00108-008-2050-y
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DOI: https://doi.org/10.1007/s00108-008-2050-y