Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation
Definition
Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.
Also known as hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation — per MONDO