Is there heart disease in cases of neurodegeneration associated with mutations in C19orf12?

INTRODUCTION: In mitochondrial membrane protein-associated neurodegeneration (MPAN), a subtype of neurodegeneration with brain iron accumulation (NBIA), patients suffer from optic nerve atrophy and dementia, which are also typical for another group of diseases, the mitochondrial diseases (MD). Around 30% of patients with MD have heart disease, commonly cardiomyopathy and arrhythmias, and 10% experience a major adverse cardiovascular event. The aim of this study was to assess cardiac involvement in MPAN.

METHODS: Thirteen patients with MPAN were evaluated after written informed consent. All patients had echocardiography and 12 patients had 24-h Holter electrocardiogram (ECG) monitoring using 3-channel digital recorders.

RESULTS: Echocardiography revealed normal values for the dimensions of all heart chambers. The systolic function of the left ventricle was normal in all cases. Right ventricle systolic impairment was found in three patients. 24-hour Holter ECG revealed predominant resting tachycardia during daytime with no physiological slowing of heart rate during sleep in seven cases. No significant arrhythmias were found. In nine patients, selected heart rate variability (HRV) parameters were lower than reference values.

CONCLUSION: Cardiomyopathy, typical of MD, was not found in patients with MPAN. There were no significant arrhythmias, but disturbances in the circadian rhythm of the heart rate were observed in most cases. The decrease in HRV may reflect an early sign of autonomic dysfunction. A standard cardiac work-up is recommended for patients with MPAN to assess if additional treatment is needed.