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Is there heart disease in cases of neurodegeneration associated with mutations in C19orf12?
Marta Skowronska1, Malgorzata Buksinska-Lisik2, Tomasz Kmiec3
12nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.
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.
Insights
Mitochondrial membrane protein-associated neurodegeneration (MPAN) patients show normal heart structure but altered heart rate rhythms and reduced heart rate variability, suggesting potential autonomic dysfunction. Cardiac work-up is recommended for MPAN patients.
Area of Science:
- Neurology
- Cardiology
- Genetics
Background:
- Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a subtype of neurodegeneration with brain iron accumulation (NBIA).
- MPAN shares symptoms like optic nerve atrophy and dementia with mitochondrial diseases (MD).
- Cardiac involvement, including cardiomyopathy and arrhythmias, is common in MD, affecting up to 30% of patients.
Purpose of the Study:
- To investigate cardiac involvement in patients diagnosed with MPAN.
- To assess for conditions like cardiomyopathy and arrhythmias in MPAN patients.
Main Methods:
- Evaluated 13 MPAN patients with written informed consent.
- Performed echocardiography on all patients.
- Conducted 24-h Holter ECG monitoring on 12 patients using 3-channel digital recorders.
Main Results:
- Echocardiography showed normal heart chamber dimensions and left ventricle systolic function in all patients.
- Three patients exhibited right ventricle systolic impairment.
- Holter ECG revealed predominant resting tachycardia, lack of heart rate slowing during sleep in seven cases, and reduced heart rate variability (HRV) in nine patients. No significant arrhythmias were detected.
Conclusions:
- Cardiomyopathy, common in MD, was not observed in MPAN patients.
- While significant arrhythmias were absent, disturbances in heart rate circadian rhythm and decreased HRV suggest potential early autonomic dysfunction in MPAN.
- A standard cardiac work-up is advised for MPAN patients to guide potential treatments.
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