Early cardiac evaluation in children with non-specific mitochondrial disease with isolated mitochondrial respiratory...

Area of Science:

• Pediatric Cardiology
• Mitochondrial Diseases
• Cardiovascular Complications

Background:

• Mitochondrial disease (MD) is a group of inherited metabolic disorders.
• Cardiac involvement is a known but often underdiagnosed complication in pediatric MD.
• Early detection of cardiac issues is vital for managing MD progression.

Purpose of the Study:

• To assess early cardiac involvement in children with non-specific mitochondrial disease using echocardiography and electrocardiography (ECG).
• To identify cardiac abnormalities in pediatric MD patients who are asymptomatic.
• To establish the necessity of cardiac screening in pediatric MD.

Main Methods:

• Evaluated 27 children with confirmed non-specific MD and isolated mitochondrial respiratory chain complex I defect.
• Utilized echocardiography to assess left ventricular ejection fraction and fractional shortening.
• Performed ECG to detect abnormalities including QT and QRS intervals.

Main Results:

• 11.1% of patients showed reduced left ventricular ejection fraction (<55%) and 7.4% had reduced fractional shortening (<26%).
• ECG abnormalities were present in 59.3% of patients, with prolonged heart rate-corrected QT interval in 40.7% and widened QRS interval in 29.6%.
• Pediatric MD patients exhibited significantly decreased LVEF and FS, and prolonged QTc compared to controls.

Conclusions:

• Children with non-specific MD, even without cardiac symptoms, show significant cardiac involvement.
• Early cardiac evaluation and regular follow-up are strongly recommended after MD diagnosis in children.
• Prompt cardiac assessment can aid in managing potential severe complications in pediatric MD.