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Mitochondrial Cardiomyopathy

A rare but progressive cardiomyopathy caused by mutations in mitochondrial or nuclear DNA.

Written by: Saygı Hospital Health Guide Editorial Board
Published:

This content is for general information; please consult your physician for diagnosis and treatment.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Kardiyoloji department. Book Appointment →

What is Mitochondrial Cardiomyopathy?

Mitochondrial cardiomyopathy is a form of cardiomyopathy caused by mitochondrial DNA or nuclear gene mutations that impair oxidative phosphorylation. Multi-system involvement is common.

It can be the cardiac component of syndromes such as MELAS, MERRF, Kearns-Sayre and LHON. It may present as dilated, hypertrophic or restrictive cardiomyopathy, frequently with ventricular arrhythmias and conduction disease.

Diagnosis is based on clinical phenotype, lactic acidemia, muscle biopsy, genetic testing and cardiac MRI. Supportive therapies such as coenzyme Q10, L-carnitine and a high-dose vitamin cocktail are used.

Symptoms

Heart failure
Arrhythmia
Conduction disease
Exercise intolerance
Lactic acidosis
Neurologic findings
Myopathy

Risk Factors

Maternal inheritance
Family history of MELAS/MERRF
Hearing loss
Diabetes mellitus
Ocular involvement
Short stature
Encephalopathy

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Combined cardiomyopathy and myopathy
  • Maternal inheritance in the family
  • Unexplained lactic acidosis
  • Multi-system involvement
  • Conduction disease
  • Ischemic events

Treatment Methods

01
Coenzyme Q10 supplementation
02
L-carnitine
03
Riboflavin and thiamine cocktail
04
Heart failure therapy
05
Pacemaker or ICD when indicated
06
Family screening
07
Multidisciplinary follow-up

Which Department to Visit?

You can visit our Kardiyoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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You can make an appointment with our specialists or contact us for your concerns.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.