Differences in Cardiovascular Manifestation of Marfan Syndrome Between Children and Adults.

Marfan syndrome (MFS) is a connective tissue disorder characterized by a broad range of clinical manifestations. Cardiovascular involvement is the most life-threatening aspect of the syndrome. Although abnormalities within the cardiovascular system in adults are well documented, there is still a paucity of data regarding manifestation of MFS in childhood. The aim of the study was to compare cardiovascular manifestation of MFS between children and adults. The study population consisted of 236 patients (144 children and 92 adults), who were referred to our department with suspicion of MFS. All patients underwent complete clinical evaluation in order to confirm the diagnosis of MFS according to the modified Ghent criteria. MFS was diagnosed in 101 (44 children and 57 adults) out of the 236 patients. The other patients were diagnosed with Ehlers-Danlos syndrome, Loeys-Dietz syndrome, MASS phenotype, ectopia lentis syndrome, marfanoid habitus and other rare syndromes. The most common cardiovascular abnormality was aortic root dilatation (81.19% of patients). It was found that both adults and children had similar high rates of aortic root dilatation. Similarly, there was no significant difference with regard to the prevalence of aortic valve regurgitation and mitral valve prolapse among children and adults. These findings equivocally indicate that the aforementioned abnormalities develop in early childhood, therefore, they may be used in the early identification of patients with MFS. Other assessed abnormalities, which included mitral valve regurgitation, pulmonary artery dilation, aneurysms of aortic arch, descending thoracic aorta and abdominal aorta were found mostly in adults, and thus, are of less use in the early detection of MFS.

The Marfan syndrome - features, natural history and treatment options - our experiences.

The Marfan syndrome (MFS) is one of the most common (1:3000-1:4000) heritable connective tissue disorders. It's still a rarely diagnosed syndrome, especially in childhood. Near all cases MFS results from mutations in the fibrillin-1 (FBN1) gene on chromosome 15q21.1, which encodes for the glycoprotein fibrillin. The FBN1 gene is a large protein that can cause more than 500 mutations and molecular examinations, finally confirming the diagnosis, are conducted extremely rare. We present prospective data concerning 66 patients with clinically-diagnosed MFS who have been controlled in Department of Pediatric Cardiology and Congenital Heart Diseases Medical University in Gdansk in 2000 - 2010. 29 patients (44%) had mitral valve regurgitations, 19 (29%) aneurysmal dilatation of the aorta, 13 (20%) had both these irregularities. In 7 cases (11%) diagnosis of mitral valve prolapse preceded appearance of an aneurysmal dilalation of the aortic bulb. During the observation 11 patients (17%) underwent cardiosurgical procedures for the sake of stopping crucial progressive mitral valve dysfunction and/or aneurysmal dilatation of the aortic bulb, which threatened with a rupture of aortic aneurysm. In 39 cases (59%) prophylactic treatment with beta - blockers was administered. The patients with MFS need a multidisciplinary system of care and the psychological supporting. The cardiosurgical treatment, which nowadays is bringing better results, due to the technological advancements is a new hope for this patient population.

The course of the dilated cardiomyopathy in three siblings - a rare case of familial non-compact left ventricle.

The dilated cardiomyopathy still remains a big problem in infant's cardiology. Almost a third of patients with this diagnosis die in infancy, 30% will suffer from the chronic heart failure that forces constant treatment or/and heart transplantations, and in remaining 30% we notice improvement during infancy. We presented the clinical course and progress of dilated cardiomyopathy based on the case of three siblings. Signs of the heart failure were nonspecific. Concluding: diagnostic vigilance must be shown in the cases of positive familial history.