Key result
Echocardiography identifies rare m.3243A>G mitochondrial cardiomyopathy decades after diabetes onset in 2 cases.
Why the study?
The m.3243A>G mitochondrial DNA variant causes diverse adult mitochondrial diseases, but delayed diagnosis of related cardiomyopathy remains an issue.
Case Report (n=2)
Echocardiography can be instrumental in identifying delayed cases of m.3243A>G-related cardiomyopathy in patients with long-standing diabetes.
May prompt mitochondrial testing in cardiomyopathy with remote diabetes onset; leaves open prevalence and screening utility.
The mitochondrial DNA m.3243A>G variant is one of the most common pathogenic mitochondrial DNA variants.1 It accounts for approximately 80% of cases of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome and is also associated with a broad spectrum of adult mitochondrial diseases, including maternally inherited diabetes and deafness (MIDD), MELAS/MIDD overlap, and nonsyndromic multisystem phenotypes.2 Here we describe 2 patients with delayed recognition of m.3243A>G-related cardiomyopathy in whom mitochondrial disease was suspected on the basis of echocardiographic findings 20 and 32 years after the onset of diabetes mellitus, respectively.
No takes yet. Share an insight, caveat, or question.
Yamada et al. (2026) conducted a case report in m.3243A>G-related cardiomyopathy (n=2). Echocardiography was evaluated on Diagnosis of m.3243A>G-related cardiomyopathy. Echocardiographic findings prompted the diagnosis of m.3243A>G-related cardiomyopathy in two patients 20 and 32 years after the onset of diabetes mellitus.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: