Marfan syndrome and cardiovascular complications: results of a family investigation

Abstract Background Cardiovascular complications in Marfan syndrome (MFS) make all its seriousness. Taking as a basis the Ghent criteria, we conducted a family screening from an index case. The objective was to describe the clinical characteristics of MFS anomalies and to detect cardiovascular complications in our patients. Case presentation Six subjects were evaluated. Patients had to be in the same uterine siblings of the index case or be a descendant. The objective was to search for MFS based on the diagnostic criteria of Ghent and, subsequently, detecting cardiovascular damage. The average age was 24 years. The examination revealed three cases of sudden death in a context of chest pain. Five subjects had systemic involvement with a score ≥ 7 that allowed to the diagnosis of MFS. Two patients had simultaneously ectopia lentis and myopia. In terms of cardiovascular damage, there were three cases of dilatation of the aortic root, two cases of aortic dissection of Stanford’s type A with severe aortic regurgitation in one case and moderate in the other. There were three patients with moderate mitral regurgitation with a case by valve prolapse. Conclusion The family screening is crucial in Marfan syndrome. It revealed serious cardiovascular complications including sudden death and aortic dissection

Les Facteurs Associés Aux Calcifications Valvulaires Du Cœur Et Ou Des Gros Troncs Artériels Chez Les Hémodialysés

Introduction: Le but de l’étude était de déterminer la prévalence ainsi que les principaux facteurs de risque associés au développement des calcifications valvulaires du cœur et/ou d’au moins un gros tronc artériel chez les hémodialysés. Patients et méthodes: Etaient inclus les patients qui avaient présenté à l’échodoppler cardiaque une calcification valvulaire du cœur et ou d’au moins un gros tronc artériel. Les variables suivantes avaient été étudiées : épidémiologiques, cliniques et paracliniques. Résultats: Sur 54 patients hémodialysés, 51 avaient été explorés parmi lesquels 39 présentaient des calcifications cardio-vasculaires. Les femmes étaient les plus touchées 66.67 % avec un sex- ratio de ½. Les calcifications valvulaires représentaient 64.1% et les calcifications vasculaires 76.9%. Les atteintes univalvulaires représentaient 68% suivies des atteintes bivalvulaires 24% et trivalvulaires 8%. Les calcifications des artères fémorales étaient les plus fréquemment rencontrées 63.3% suivies des artères iliaques 53.3 %. Conclusion: Les calcifications cardiovasculaires sont fréquentes chez les hémodialysés. Les principaux facteurs de risque liés à la survenue des calcifications étaient : l’hypocalcémie, l’hypo et l’hypercholestérolémie à LDL, l’hyper cholestérolémie totale et le taux sanguin de PTHi augmenté. La correction de ces troubles pourrait prévenir la survenue des calcifications.   Introduction: The purpose of the study was to determine the prevalence and key risk factors associated with the development of valve calcifications of the heart and/or at least one large arterial trunk in hemodialysis. Patients and methods: Patients who had presented with cardiac echodoppler a valve calcification of the heart and or at least one large arterial trunk were included. The following variables had been studied: epidemiological, clinical and paraclinical. Results: Of 54 hemodialysis patients, 51 were explored, 39 of whom had cardiovascular calcifications. Women were the most affected 66.67% with a sex ratio of ½. Valvular calcifications represented 64.1% and vascular calcifications 76.9%. Univalvular involvement accounted for 68% followed by bivalvular involvement 24% and trivalvular involvement 8%. Calcifications of the femoral arteries were the most frequently encountered 63.3% followed by the iliac arteries 53.3%. Conclusion: Cardiovascular calcifications are common in hemodialysis patients. The main risk factors related to the onset of calcifications were: hypocalcemia, hypo and hyperlolesterolemia with LDL, hyper hyper cholesterolemia and increased blood PTHi levels. The correction of these disorders would be a way to prevent the occurrence of calcifications