Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients

BackgroundFamilial dilated cardiomyopathy (DCM) causes heart failure and may lead to heart transplantation. DCM is typically a monogenic disorder with autosomal dominant inheritance. Currently disease-causing variants have been reported in over 60 genes that encode proteins in sarcomeres, nuclear la...

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Main Authors: Krista Heliö, Marcos Cicerchia, Julie Hathaway, Johanna Tommiska, Johanna Huusko, Inka Saarinen, Lotta Koskinen, Mikko Muona, Ville Kytölä, Janica Djupsjöbacka, Massimiliano Gentile, Pertteli Salmenperä, Tero-Pekka Alastalo, Christian Steinberg, Tiina Heliö, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-09-01
Series:Frontiers in Cardiovascular Medicine
Subjects:
dilated cardiomyopathy
cardiomyopathy
genetic testing
next generation sequencing
diagnostic yield
Online Access:https://www.frontiersin.org/articles/10.3389/fcvm.2023.1254272/full

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