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Bärbel Klauke, Anna Gärtner-Rommel, Uwe Schulz, Astrid Kassner, Edzard zu Knyphausen, Kai Thorsten Laser, Deniz Kececioglu, Lech Paluszkiewicz, Ute Blanz, Eugen Sandica, Antoon J. van den Bogaerdt, J. Peter van Tintelen, Jan Gummert, Hendrik Milting

• Cardiomyopathies might lead to end-stage heart disease with the requirement of drastic treatments like bridging up to transplant or heart transplantation. A not precisely known proportion of these diseases are genetically determined. We genotyped 43 index-patients (30 DCM, 10 ARVC, 3 RCM) with advanced or end stage cardiomyopathy using a gene panel which covered 46 known cardiomyopathy disease genes. Fifty-three variants with possible impact on disease in 33 patients were identified. Of these 27 (51%) were classified as likely pathogenic or pathogenic in the \(\textit {MYH7, MYL2, MYL3, NEXN, TNNC1, TNNI3, DES, LMNA, PKP2, PLN, RBM20, TTN,}\) and \(\it CRYAB\) genes. Fifty-six percent (n = 24) of index-patients carried a likely pathogenic or pathogenic mutation. Of these 75% (n = 18) were familial and 25% (n = 6) sporadic cases. However, severe cardiomyopathy seemed to be not characterized by a specific mutation profile. Remarkably, we identified a novel homozygous \(\it PKP2\)-missense variant in a large consanguineous family with sudden death in early childhood and several members with heart transplantation in adolescent age.