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Heart disease in Friedreich's ataxia: a clinical and echocardiographic study
N Günal1, M Saraçlar, S Ozkutlu
1Department of Pediatric Cardiology, Hacettepe University, Ankara, Turkey.
Insights
Friedreich
Area of Science:
- Cardiology
- Neurology
- Genetics
Background:
- Friedreich's ataxia (FA) is a rare inherited neurodegenerative disorder.
- Cardiac complications are a significant cause of morbidity and mortality in FA patients.
- Understanding the spectrum of cardiac involvement is crucial for patient management.
Purpose of the Study:
- To evaluate the prevalence and patterns of heart disease in pediatric patients with Friedreich's ataxia.
- To correlate clinical and echocardiographic findings in FA patients.
Main Methods:
- Clinical assessment of twelve pediatric patients diagnosed with Friedreich's ataxia.
- Comprehensive echocardiographic examinations to assess cardiac structure and function.
- Electrocardiographic (ECG) evaluations were performed concurrently.
Main Results:
- Significant cardiac abnormalities were detected in 67% of patients via ECG and 58% via echocardiography.
- The most frequent echocardiographic findings included asymmetric septal hypertrophy (ASH), followed by concentric left ventricular hypertrophy (CLVH).
- Dilated cardiomyopathy (DC) was also observed, consistent with known cardiac pathology in FA.
Conclusions:
- Pediatric patients with Friedreich's ataxia exhibit a high incidence of cardiac involvement.
- Echocardiography and ECG are essential tools for detecting cardiac disease in FA.
- The observed pathologies, including ASH and CLVH, align with established literature on FA cardiomyopathy.
Abstract:
Twelve patients with Friedreich's ataxia (FA) were evaluated clinically and echocardiographically for evidence of heart disease. Electrocardiographic and echocardiographic abnormal findings were discovered in eight (67%) and seven (58%) children, respectively. A high incidence of cardiac involvement is well known in FA cases. Although the patient number in the present study is small, the findings are consistent with those in the literature. The most common pathology was asymmetric septal hypertrophy (ASH), followed by concentric left ventricular hypertrophy (CLVH) and dilated cardiomyopathy (DC).