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Diastolic dysfonction

David Montani, Sven Günther, Peter Dorfmüller, Frédéric Perros, Barbara Girerd, Gilles Garcia, Xavier Jaïs, Laurent Savale, Elise Artaud-Macari, Laura C Price, Marc Humbert, Gérald Simonneau, Olivier Sitbon
Pulmonary arterial hypertension (PAH) is a chronic and progressive disease leading to right heart failure and ultimately death if untreated. The first classification of PH was proposed in 1973. In 2008, the fourth World Symposium on PH held in Dana Point (California, USA) revised previous classifications. Currently, PH is devided into five subgroups. Group 1 includes patients suffering from idiopathic or familial PAH with or without germline mutations. Patients with a diagnosis of PAH should systematically been screened regarding to underlying mutations of BMPR2 gene (bone morphogenetic protein receptor type 2) or more rarely of ACVRL1 (activine receptor-like kinase type 1), ENG (endogline) or Smad8 genes...
2013: Orphanet Journal of Rare Diseases
Sondos Kraiem, Chedli Abbassi, Sofiane Kammoun, Somaya Tellili, Mohamed Hmem, Ibtissem Smaali, Mohamed Habib Khaldi, Slim Boudiche, Mourad Mejri, Amel Mokline, Battikh Kaies, Selma Longo, Mohamed Lotfi Slimane
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...
April 2006: La Tunisie Médicale
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