Key result
Longer GAA1 repeats in Friedreich ataxia linked to ~41% higher mortality per 100 repeats.
Why the study?
A high incidence of cardiac involvement in Friedreich's ataxia is well known, but comprehensive clinical and echocardiographic characterization in a large cohort was lacking.
Does greater genetic severity (GAA1 repeat length) predict cardiac dysfunction, arrhythmias, and mortality in patients with Friedreich ataxia?
Cohort (n=591)
Yes
Does greater genetic severity (GAA1 repeat length) predict cardiac dysfunction, arrhythmias, and mortality in patients with Friedreich ataxia?
Odds Ratio: 1.41 (95% CI 1.2–1.65)
p-value: p=0.0001
This large retrospective cohort establishes a clear correlation between the genetic severity of Friedreich ataxia, progressive early cardiac hypertrophy, later systolic dysfunction, and premature mortality.
Longer GAA1 repeats may guide risk stratification for cardiac complications in Friedreich ataxia; supports consensus but leaves practice change open.
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).
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Günal et al. (1996) conducted a cohort in Friedreich ataxia (n=591). Expanded GAA1 repeat length was evaluated on Death before the end of the study (OR 1.41 per 100 repeats, 95% CI 1.20-1.65, p=0.0001). Increased genetic severity, as measured by longer GAA1 repeat length, significantly predicted earlier mortality (OR 1.41 per 100 repeats) and the development of arrhythmias and systolic dysfunction in patients with Friedreich ataxia.
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