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August 2021


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Pathogenic Variants Associated With Dilated Cardiomyopathy Predict Outcome in Pediatric Myocarditis, Circulation: Genomic and Precision Medicine. 2021;14:e003250, DZHK authors: Franziska Seidel, Nadya Al-Wakeel-Marquard, Daniel Messroghli, Felix Berger, Stephan Schubert, Jirko Kühnisch, Sabine Klaassen

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Until recently, there were few options for predicting the course of myocarditis in children. A team of scientists in Berlin, led by Sabine Klaassen, has discovered genetic defects associated with the severity of the disease and published the results in Circulation: Genomic and Precision Medicine.

The study examined the genes of 42 children with myocarditis. The children had blood and tissue taken directly from their hearts. Twenty of the participating children also had dilated cardiomyopathy. The researchers found an accumulation of rare, disease-causing gene variants in children with myocarditis and dilated cardiomyopathy. These genetic defects occurred predominantly in young children with severe disease courses.

The results suggest that children who have dilated cardiomyopathy in addition to myocarditis have a higher risk of developing permanent heart failure or even dying. Genetic testing could therefore be part of the diagnostic process in the future, especially for young children. In this way, individually tailored drug therapy can be initiated early, and a heart support system such as the Berlin Heart can be used. Genetic diagnostics could also provide important clues in advance for successful weaning from the artificial heart.

Link to the Paper