Article
Prevalence and Clinical Consequences of Multiple Pathogenic Variants in Dilated Cardiomyopathy.
Circulation. Genomic and precision medicine - 1 Apr 2023
Stroeks Sophie L V M, Lunde Ida G, Hellebrekers Debby M E I, Claes Godelieve R F, Wakimoto Hiroko, Gorham Joshua, Krapels Ingrid P C, Vanhoutte Els K, van den Wijngaard Arthur, Henkens Michiel T H M, Raafs Anne G, Sikking Maurits A, Broers Jos L V, Nabben Miranda, Jones Elizabeth A V, Heymans Stephane R B, Brunner Han G, Verdonschot Job A J
Abstract excerpt
BACKGROUND: Dilated cardiomyopathy (DCM) was considered a monogenetic disease that can be caused by over 60 genes. Evidence suggests that the combination of multiple pathogenic variants leads to greater disease severity and earlier onset. So far, not much is known about the prevalence and disease course of multiple pathogenic variants in patients with DCM. To gain insight into these knowledge gaps, we (1)...
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