Left ventricular function in alpha-sarcoglycanopathy and gamma-sarcoglycanopathy.
Sarcoglycanopathies are autosomic recessive muscular dystrophies, secondary to mutations of the sarcoglycan complex. Heart can be involved in sarcoglycanopathies. We sought to analyse left ventricular function in patients with alpha-sarcoglycanopathy and gamma-sarcoglycanopathy. We conducted a retrospective study that aimed to analyse clinical and echocardiographic data of patients with sarcoglycanopathies. Our study included 19 patients: eight patients with alpha-sarcoglycanopathy and 11 patients with gamma-sarcoglycanopathy. Mean age was 37.8 ± 8.7 years in alpha-sarcoglycanopathy and 36 ± 7.3 years in gamma-sarcoglycanopathy. Mean VC was, respectively, 36.3 ± 18 % in alpha-sarcoglycanopathy and 23.5 ± 6.8 % in gamma-sarcoglycanopathy (p 0.05). 1/8 patients disclosed a left ventricular dysfunction with a left ventricular ejection fraction (LVEF) <50 % in alpha-sarcoglycanopathy, whereas 5/11 patients disclosed a left ventricular dysfunction (LVEF < 50 %) in gamma-sarcoglycanopathy. LV was altered in gamma-sarcoglycanopathy than in alpha-sarcoglycanopathy (LVEF at 45.6 ± 18 vs. 59.6 ± 5.9 % p 0.018). We found a significant alteration of the left ventricular function in gamma-sarcoglycanopathy compared to alpha-sarcoglycanopathy.
Réanimation médicale, Hôpital Raymond Poincaré (AP-HP), Université de Versailles SQY, 104 boulevard Raymond Poincaré, 92380, Garches, France, fayssoil2000@yahoo.fr.
Abdallah
A
Fayssoil
Olivier
O
Nardi
Djillali
D
Annane
David
D
Orlikowski
D000328:Adult; D015150:Echocardiography, Doppler; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation / Q000235:genetics; D012189:Retrospective Studies; D058088:Sarcoglycanopathies / Q000150:complications* / Q000473:pathology*; D049031:Sarcoglycans / Q000235:genetics* / Q000378:metabolism; D018487:Ventricular Dysfunction, Left / Q000209:etiology*; D016277:Ventricular Function, Left / Q000502:physiology; D014797:Vital Capacity
D049031:Sarcoglycans