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Cardiac involvement in Werdnig-Hoffmann's spinal muscular atrophy
1Ludwig Boltzmann Institute for Epilepsy and Neuromuscular Disorders, Krankenanstalt Rudolfstiftung, Vienna, Austria. fij@2nr.nkr.magwien.gv.at
Cardiology
|April 8, 2000
Summary
Cardiac involvement in spinal muscular atrophy (SMA) often includes ECG abnormalities and thickened heart muscle. This cardiac involvement in SMA frequently requires dedicated cardiac therapy for affected patients.
Area of Science:
- Cardiology
- Neurology
- Genetics
Background:
- Cardiac involvement (CI) in neuromuscular disorders is gaining attention.
- Limited data exists on CI specifically within spinal muscular atrophy (SMA).
Purpose of the Study:
- To identify cardiac manifestations in SMA patients.
- To determine the incidence of CI in SMA.
- To assess the need for cardiac therapy in SMA patients with CI.
Main Methods:
- Eight SMA patients (aged 10-79) underwent comprehensive cardiac evaluation.
- Evaluations included clinical examination, ECG, echocardiography, and ambulatory ECG monitoring.
Main Results:
- Common findings included angina pectoris, palpitations, and exertional dyspnea.
- ECG revealed ST abnormalities and couplets.
- Echocardiography showed thickened myocardium and diastolic dysfunction.
Conclusions:
- Cardiac manifestations in SMA primarily involve ECG changes and myocardial thickening.
- CI in SMA patients often necessitates medical intervention and cardiac therapy.