Nuclear Genes Causing Mitochondrial Cardiomyopathy

摘要: The heart is one of the major energy-consuming organs. Consequently, cardiac muscle dysfunction a common but underrecognized feature mitochondrial disease. Patients with disease and involvement have higher morbidity mortality. Early recognition prompt treatment symptoms can significantly impact recovery limit progression. Mutations in X-linked gene TAZ cause Barth syndrome, disorder characterized by dilated cardiomyopathy, neutropenia, growth retardation, 3-methlyglutaconic aciduria. An undulating phenotype many cardiomyopathies including phenotypes alternating between hypertrophic forms. Left ventricular noncompaction, developmental arrest myocardium, may be seen isolation or combination other cardiomyopathy phenotypes. Four additional nuclear genes known to disparate mechanisms are SLC25A3, SURF1, SCO2, TMEM70. In addition, secondary finding patients end-stage failure, aging, ischemia, diabetes. there substantial interest identification therapy for both primary dysfunction.