Marfan's syndrome: an overview

Abstract

Marfan's syndrome is an autosomal dominant condition with an estimated prevalence of one in 10,000 to 20,000 individuals. This rare hereditary connective tissue disorder affects many parts of the body. The diagnosis of Marfan's syndrome is established in accordance with a review of the diagnostic criteria, known as the Ghent nosology, through a comprehensive assessment largely based on a combination of major and minor clinical manifestations in various organ systems and the family history. Aortic root dilation and mitral valve prolapse are the main presentations among the cardiovascular malformations of Marfan's syndrome. The pathogenesis of Marfan's syndrome has not been fully elucidated. However, fibrillin-1 gene mutations are believed to exert a dominant negative effect. Therefore, Marfan's syndrome is termed a fibrillinopathy, along with other connective tissue disorders with subtle differences in clinical manifestations. The treatment may include prophylactic β-blockers and angiotensin II-receptor blockers in order to slow down the dilation of the ascending aorta, and prophylactic aortic surgery. Importantly, β-blocker therapy may reduce TGF-β activation, which has been recognized as a contributory factor in Marfan's syndrome. The present article aims to provide an overview of this rare hereditary disorder. RESUMOSíndrome de Marfan é uma condição autossômica dominante com prevalência estimada de 1 em 10.000 a 20.000 indivíduos. É uma rara desordem hereditária do tecido conjuntivo que afeta muitas partes do corpo. O diagnóstico da síndrome de Marfan é feito de acordo com uma revisão dos critérios diagnósticos conhecida como a nosologia Ghent, por meio de uma avaliação abrangente, em grande parte baseada em uma combinação de pequenas e grandes manifestações clínicas em vários sistemas de órgãos e na história familiar. Dilatação da raiz aórtica e prolapso da valva mitral são as principais apresentações entre as malformações cardiovasculares da síndrome de Marfan. A patogênese da síndrome de Marfan não foi totalmente esclarecida, mas acredita-se que mutações genéticas de fibrillina-1 exercem um efeito negativo dominante.Portanto, a síndrome de Marfan é denominada como fibrilinopatia, juntamente com outras desordens do tecido conectivo, com sutis diferenças nas manifestações clínicas. O tratamento pode incluir β-bloqueadores profiláticos e bloqueadores dos receptores da angiotensina II, a fim de retardar a dilatação da aorta ascendente e cirurgia profilática da aorta. De importância, a terapia com β-bloqueadores pode reduzir a ativação de TGF-β, que foi reconhecido como um fator contribuinte da síndrome de Marfan. O presente artigo visa proporcionar uma visão global desta rara desordem de hereditariedade.

Pulmonary Hypertension Associated to Schistosomiasis and Marfan Syndrome

“…There are difficulties on diagnosing Marfan Syndrome (MS) due to findings also present in general healthy population; some of those, however, are uncommon but frequent in MS, like crystalline luxation, present in 50-80% of the patients [6]. Our patient's background of ocular illness, added to other musculoskeletal characteristics aroused suspicion of MS.…”

“…It affects especially the musculoskeletal, ocular and cardiovascular systems. Defined by its clinical characteristics, its diagnosis is made according to Ghent's nosology criteria [6,7].…”

In Vivo Measurements of Biophysical Properties of a Heart and Aorta in a Mouse Model of Marfan Syndrome

“…Arachnodactyly (overgrowth of the fingers) often occurs in Marfan patients. (Yuan and Jing 2010). Scoliosis is a common manifestation of Marfan patients and usually progresses at a faster rate than idiopathic scoliosis (De Paepe, Devereux et al 1996).…”

“…Scoliosis is a common manifestation of Marfan patients and usually progresses at a faster rate than idiopathic scoliosis (De Paepe, Devereux et al 1996). Disproportionately long limbs, pes planus (flat feet), vertebral column, and a highly arched and narrow palate are also frequently identified in Marfan patients (Canadas, Vilacosta et al 2010, Yuan andJing 2010) In the ocular system, myopia is the most common ocular feature (Nelson and Maumenee 1982). Lens dislocation and ectopia lentis present in about 60% of affected individuals (Maumenee 1981).…”

Surgical Management of the Aortic Root

“…Prevalence of Marfan's ranges from 1 in 10,000 to 20,000 people. [26] Although aortic root problems have the most dramatic sequelae in patients, other systems are adversely affected by this single gene mutation including the lungs, bones, muscles, and the central nervous system. Aortic dissection and subsequent rupture is the most common cause of sudden death in Marfan patients.…”