Mitochondria have two genomes – mitochondrial and nuclear. Mitochondrial disease could be due to mutations of nuclear or mitochondrial DNA. Mitochondrial DNA is inherited maternally while nuclear DNA has Mendelian inheritance, which could be dominant or recessive. It may be noted in about one in 5000 live births. Cardiac involvement in mitochondrial disease seldom occurs in isolation and is often part of multiorgan dysfunction. Mitochondria being part of the cellular respiratory chain, tissues with high energy requirements like heart, muscle, kidneys and endocrine system are often involved in mitochondrial disease. Cardiac manifestations described in mitochondrial disease include hypertrophic and dilated cardiomyopathy, arrhythmias, left ventricular noncompaction and heart failure. These could worsen during a metabolic crisis.

Mitochondrial crisis can be precipitated by stressors like febrile illness or surgery and can lead to acute heart failure. Kearns-Sayre syndrome is a well known mitochondrial disease with progressive external ophthalmoplegia and cardiac conduction defects. Family history of maternal inheritance of multisystem disease is an indicator for mitochondrial disease. Gold standard for diagnosis of mitochondrial disease is muscle biopsy. Management of mitochondrial disease and cardiomyopathy are mostly supportive. They should avoid medications which are likely to interfere with mitochondrial function and precipitate a crisis.
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