Bilateral deafness, diabetes, and different types of cardiomyopathy in family members with m.3243A > g mutation: a case report.
Florian SeilerPhilipp RuileMartin MoserThomas HelbingPublished in: European heart journal. Case reports (2023)
In patients with unexplained symmetric HCM with heterogenic clinical phenotypes at the organ levels, mitochondrial disease should be taken into consideration, particularly in the context of matrilinear transmission. m.3243A > G mutation is associated with mitochondrial disease in the index patient and five family members and leads to the diagnosis of maternally inherited diabetes and deafness with intra-familial variability of different cardiomyopathy forms.