Manifestation of cardiomyopathy in patients with Marfan syndrome and marfanoid habitus

Ekaterina B Luneva, Eduard G Malev, Alexandra L Korshunova, Svetlana V Reeva, Evgeniy V Timofeev, Eduard V Zemtsovsky
2016 Pediatrician (St Petersburg)  
Marfan syndrome is a common genetically determined pathology of connective tissue. It was showed a reduction in systolic and diastolic left ventricular function in patients with Marfan syndrome, as well as the increase in left ventricle size, regardless of previous surgical intervention. Now in literature use the term "cardiomyopathy in Marfan syndrome," denoting changes of the left ventricular function, in the absence of hemodynamic reasons for its deterioration. In this paper we evaluated the
more » ... er we evaluated the morphological and functional characteristics of the left ventricle, not only in patients with Marfan syndrome, but also in patients with marfanoid habitus.Materials and methods. The study included 98 people, 8 of them – patients with Marfan syndrome, 24 examinees with marfanoid habitus and 66 healthy examinees – control group. To all patients entered into the study, echocardiography was performed. Additionally global and local deformation of the myocardium using techniques speckle tracking was assessed.Resultssignificant difference circumferental deformation parameters of the anterior and lateral walls of the left ventricle and its statistically significant reduction in the group with marfanoid habitus was obtained.Conclusionsimpaired regional contractility may be the first sign of cardiomyopathy in patients with Marfan syndrome and in such a dysplastic phenotype as marfanoid habitus that is likely associated with hereditary disorders of the structure and function of connective tissue in various states of dysplastic phenotipes.
doi:10.17816/ped7496-101 fatcat:m2yklwn35jfbrii7lfkgccfcom