Marfan syndrome is an autosomal dominant disorder of the connective tissues, resulting in abnormalities of the musculoskeletal system, cardiovascular system and eyes. It has a prevalence of 1 in 100,000 population and occurs in all ethnic groups. It may be familial or due to new mutation (30%), in the fibrillin gene on arm of chromosome 15. It is estimated that one person in every 3000 to 5000 ...

Cardiovascular surgery in the setting of chest wall deformities is a clinical challenge. Pectus excavatum, for example, can cause heart displacement to the left thoracic cavity, following the poor operative field. This report highlights a case in which a successful aortic valve-sparing operation via conventional median sternotomy after correction of the heart displacement due to pectus excavatu...

Marfan syndrome is a variable, autosomal dominant connective tissue disorder, affecting mainly the cardiovascular system, eyes, and skeleton. The incidence is approximately 1 in 9800, and around 26% of cases have no family history, the condition resulting from a new mutation. Characteristic features include progressive aortic dilatation associated with aortic valve incompetence, mitral valve pr...

AIMS Marfan syndrome (MFS) is a dominantly inherited connective tissue disorder caused by mutations in the fibrillin-1 gene. Past research has focused on younger patients as lifespan was known to be significantly reduced. This study aims to describe the complications, including those affecting the eyes, heart and musculoskeletal system, faced by older survivors. METHODS All 2500 patient recor...

BACKGROUND As the shortcomings of the Bentall operation and its variants in the Marfan syndrome have become apparent, the recent cusp-sparing techniques (remodeling or reimplantation) bear promise of better mid-term and long-term outcomes. OBJECTIVE To examine the results of aortic root surgery in patients with Marfan syndrome. METHODS During the period March 1994 to September 2007, 220 pat...

BACKGROUND We describe the case of a 38 year old male with Marfan syndrome who presented with orthostatic headaches and seizures. CASE PRESENTATION The patient was diagnosed with Spontaneous Intracranial Hypotension secondary to CSF leaks, objectively demonstrated by MR myelogram with intrathecal contrast. Epidural autologous blood patch was administered at the leakage site leading to signifi...

OBJECTIVE Marfan's syndrome is characterized by the formation of ascending aortic aneurysms resulting from altered assembly of extracellular matrix microfibrils and chronic tissue growth factor (TGF)-β signaling. TGF-β is a potent regulator of the vascular smooth muscle cell (VSMC) phenotype. We hypothesized that as a result of the chronic TGF-β signaling, VSMC would alter their basal different...

PURPOSE Transforming growth factor beta receptor II (TGFBR2) gene mutations are associated with Marfan syndrome; however, the relationship between the mutations and clinical phenotypes are not clear. METHODS Genomic DNA from peripheral blood leukocytes of a Chinese proband with Marfan syndrome, five of the proband's relatives, and 100 unrelated Chinese control subjects were isolated and scree...

We describe a patient with the Marfan syndrome who presented with an acute aortic dissection. She underwent composite graft replacement of the aortic root. She returned two years later with dyspnoea and stridor due to tracheal compression by a large chronic dissection of the thoracic aorta. Marfan patients are at risk of chronic dissection involving the remaining distal aorta and require regula...

The markedly decreased level of the messenger RNA of decorin, an abundant dermatan/chondroitin sulfate proteoglycan was found in the skin fibroblast culture of a lethally sick Marfan infant. Also, the amount of decorin polypeptide in the culture medium of the fibroblasts of this infant was markedly decreased. When the effect of interleukin-1 beta on the transcription of decorin was tested in th...