Genetik kardialer Erkrankungen

作者: Pölzl G , Hörmann P , Fauth C , Zschocke J

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摘要: Genetics of Cardiac Diseases. Ge- netics cardiac diseases has evolved rapidly during the last years and its implementation into clinical practice is steadily progressing. Geno-  Fallbericht Ein 36-jahriger Patient wurde an unserer Abteilung zur Ab- klarung einer hypertrophen Kardiomyopathie, welche an- lasslich kurzlich vorausgegangen kardialen Dekompen- sation erstmalig diagnostiziert wurde, vorgestellt. Es bestand bereits seit ca. 3 Jahren eine zunehmende Leistungseinschran- kung. An Vorerkrankungen konnte bilaterale Innenohr- schwerhorigkeit mit Horgeratversorgung dem 24. Le- bensjahr, ein relativer Kleinwuchs sowie insulinpflichti- ger Diabetes mellitus (ED 21 Jahren) erfasst werden. Weiters okulare Apraxie, mehrmals wochentlich auftretende Cephalea Z. n. fraglicher TIA. Klinisch fand sich kein Hinweis auf Myopathie. Die Mutter des Patienten war relativ jung einem Schlaganfall verstorben, Bruder leidet ebenfalls insulin-

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