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May age onset be relevant in the occurrence of left ventricular hypertrophy in Friedreich's ataxia?
1Department of Internal Medicine, Federico II University of Naples, School of Medicine, Italy.
Insights
Early-onset Friedreich's ataxia (FA) is linked to a higher prevalence of left ventricular hypertrophy (LVH). This cardiac abnormality, left ventricular hypertrophy, occurs more frequently when FA develops at a younger age.
Area of Science:
- Neurology
- Cardiology
- Genetics
Background:
- Friedreich's ataxia (FA) is a prevalent spinocerebellar degenerative disease.
- Cardiac involvement is frequently reported in FA patients.
- The underlying mechanisms of cardiac abnormalities in FA remain unclear.
Purpose of the Study:
- To determine the prevalence and characteristics of cardiac abnormalities in FA patients.
- To investigate predictors for left ventricular hypertrophy (LVH) in FA.
- To compare cardiac findings between early-onset FA and late-onset FA (LOFA).
Main Methods:
- Noninvasive cardiac evaluation was performed on 75 FA patients and 16 LOFA patients.
- Echocardiography was used to assess for cardiac abnormalities, specifically LVH.
- Age of onset and familial distribution of hypertrophy were analyzed.
Main Results:
- 41% of FA patients (31/75) exhibited LVH, with an average age of onset of 9.8 years.
- FA patients without LVH had a later average age of onset (12.6 years).
- No cardiac abnormalities were detected in 16 LOFA patients (average age of onset 26.5 years).
Conclusions:
- LVH occurs more frequently in FA patients with an earlier age of onset.
- The findings suggest a correlation between disease severity/progression and cardiac involvement in FA.
- Early detection and monitoring of cardiac function are crucial for FA patients.
Background:
Although heart involvement has been widely reported in Friedreich's ataxia (FA), which is the most prevalent of the spino-cerebellar degenerative diseases, the reason that cardiac abnormalities develop has not been yet established.
Hypothesis:
The investigation was undertaken to study the prevalence and characteristics of cardiac abnormalities in patients with FA and to evaluate whether the presence of left ventricular hypertrophy could be predicted.
Methods:
In all, 75 patients with FA and 16 patients with late onset FA (LOFA) disease were investigated for cardiac abnormalities using noninvasive methods.
Results:
A significant (p < 0.01) difference in the age onset (9.8 +/- 3.9 years) was found in 31 of the 75 patients with FA (41%) who showed left ventricular hypertrophy (LVH) at echocardiographic examination compared with the remaining 44 patients with FA without LVH (12.6 +/- 4.3 years). Moreover, none of the 16 patients with LOFA (age onset 26.5 +/- 4.2 years) showed abnormalities at echocardiographic examination. A significant (p < 0.01) concordance in the familial distribution of hypertrophy was also found.
Conclusion:
These data suggest that the earlier the disease develops the more frequently LVH occurs.