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Left ventricular function in alpha-sarcoglycanopathy and gamma-sarcoglycanopathy
Abdallah Fayssoil1, Olivier Nardi, Djillali Annane
1Réanimation médicale, Hôpital Raymond Poincaré (AP-HP), Université de Versailles SQY, 104 boulevard Raymond Poincaré, 92380, Garches, France, fayssoil2000@yahoo.fr.
Acta Neurologica Belgica
|January 28, 2014
Summary
Sarcoglycanopathies can affect the heart. This study found significantly more left ventricular dysfunction in gamma-sarcoglycanopathy patients compared to alpha-sarcoglycanopathy patients.
Area of Science:
- Cardiology
- Neurology
- Genetics
Background:
- Sarcoglycanopathies are a group of genetic muscle disorders.
- These conditions result from mutations in the sarcoglycan complex, affecting muscle integrity.
- Cardiac involvement, specifically left ventricular dysfunction, can occur in sarcoglycanopathies.
Purpose of the Study:
- To investigate and compare left ventricular (LV) function in patients with alpha-sarcoglycanopathy and gamma-sarcoglycanopathy.
- To identify differences in cardiac involvement between these two specific types of sarcoglycanopathy.
Main Methods:
- Retrospective analysis of clinical and echocardiographic data.
- Inclusion of 19 patients: 8 with alpha-sarcoglycanopathy and 11 with gamma-sarcoglycanopathy.
- Assessment of left ventricular ejection fraction (LVEF) to evaluate cardiac function.
Main Results:
- A higher prevalence of left ventricular dysfunction (LVEF <50%) was observed in gamma-sarcoglycanopathy (5/11 patients) compared to alpha-sarcoglycanopathy (1/8 patients).
- Mean LVEF was significantly lower in gamma-sarcoglycanopathy (45.6 ± 18%) than in alpha-sarcoglycanopathy (59.6 ± 5.9%).
- Pulmonary function (VC) was also significantly lower in gamma-sarcoglycanopathy (23.5 ± 6.8%) compared to alpha-sarcoglycanopathy (36.3 ± 18%).
Conclusions:
- Left ventricular function is significantly more altered in gamma-sarcoglycanopathy than in alpha-sarcoglycanopathy.
- These findings highlight the differential impact of specific sarcoglycan mutations on cardiac health.
- Further cardiac monitoring is crucial for patients with gamma-sarcoglycanopathy.
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