Prevalence and Clinical Consequences of Multiple Pathogenic Variants in Dilated Cardiomyopathy.
Sophie L V M StroeksIda Gjervold LundeDebby M E I HellebrekersGodelieve R F ClaesHiroko WakimotoJoshua M GorhamIngrid P C KrapelsEls K VanhoutteArthur van den WijngaardMichiel T H M HenkensAnne G RaafsMaurits A SikkingJos L V BroersMiranda NabbenElizabeth Anne Vincent JonesStephane R B HeymansHan G BrunnerJob A J VerdonschotPublished in: Circulation. Genomic and precision medicine (2023)
In this study population, 2.3% of patients with DCM with one LP/P also have a second LP/P in a different gene. Although the second LP/P does not seem to influence the disease course of DCM in patients and mice, the finding of a second LP/P can be of importance to their relatives.