Hypertrophic cardiomyopathy in Freidreich ataxia: about two cases
Kraiem, S.; Abbassi, C.; Kammoun, S.; Tellili, S.; Hmem, M.; Smaali, I.; Khaldi, M.H.; Boudiche, S.; Mejri, M.; Mokline, A.; Kaies, B.; Longo, S.; Slimane, M.L.
La Tunisie Medicale 84(4): 248-252
2006
ISSN/ISBN: 0041-4131 PMID: 16832996 Document Number: 598706
Freidreich ataxia is the most frequent ataxia of early onset and of autosomal recessive transmission. It is associated with hypertrophic cardiomyopathy in 34 to 77% of cases. The purpose of this article is to describe the cardiac manifestations of two patients affected by this disease. The first case report is about a 34-years-old, bedridden male patient having muscular hypotony and osteotendinous areflexia of the lower limbs. Chest x-ray findings showed a cardiac silhouette distorted by scoliokyphosis. ECG revealed frequent auricular extrasystoles. Cardiac US examination disclosed a pattern of concentric hypertrophic cardiomyopathy with systolic and diastolic dysfonction.