Marfan syndrome is an autosomal dominant condition with varying phenotypic manifestations. Affected persons are usually heterozygotes. A family is presented in which the gene for this syndrome is segregating in a large number of members. Two sibs suffered from unusually severe, identical, and fatal manifestations from birth, their parents having mild cardiovascular and somatic symptoms common i...

Aneurysms associated with inherited connective tissue disorders (CTD) constitute a specific but important issue in thoracoabdominal aortic aneurysm (TAAA) surgery. In this respect, Marfan syndrome and Ehlers-Danlos syndrome (EDS) type IV represent the most significant disorders causing aneurysmal dilatation of the thoracic aorta. Marfan syndrome typically causes aortic root dilatation, aortic v...

BACKGROUND Marfan syndrome (MFS) is one of the most common systemic disorders of connective tissue with the incidence of approximately 2-3 per 10 000 individuals. Aortic disease, leading to progressive aneurysmal dilatation and dissection is the main cause of morbidity and mortality of Marfan patients. Current treatment (e.g. beta blockers and elective surgery) does postpone but cannot prevent ...

BACKGROUND Marfan's syndrome is a connective tissue disorder inherited as an autosomal dominant disorder. It causes a myriad of distinct clinical problems, of which the musculoskeletal, cardiac, and ocular system problems predominate. Nearly 50 percent of patients have to undergo aortic surgery in their lifetime resulting in reconstruction or replacement of the aortic root or total of this vess...

PURPOSE To review the available information on the diagnostic, prognostic, and therapeutic aspects of cardiac complications in women with the Marfan syndrome during the peripartum period and to develop guidelines for the approach to these patients on the basis of this information. DATA SOURCES A MEDLINE search and a manual search of bibliographies from reviewed articles. STUDY SELECTION AND...

An unusual case of bacterial endocarditis in Marfan syndrome is reported. A review of the published reports revealed 21 previously reported cases. The aortic valve, though commonly abnormal in Marfan syndrome, was rarely involved by the endocarditis. In contrast, the mitral valve was the favoured site of infection in these patients. Our own patient had staphylococcal endocarditis of both the ao...

Calcium channel blockers (CCBs) are prescribed to patients with Marfan syndrome for prophylaxis against aortic aneurysm progression, despite limited evidence for their efficacy and safety in the disorder. Unexpectedly, Marfan mice treated with CCBs show accelerated aneurysm expansion, rupture, and premature lethality. This effect is both extracellular signal-regulated kinase (ERK1/2) dependent ...

Understanding the growth pattern in Marfan syndrome is important for prediction of expected growth, prevention of excessive growth by hormone therapy, timing of surgical epiphysiodesis for cessation of growth, and instituting brace treatment for scoliosis. In this study, we analyze growth patterns and generate growth charts for persons with Marfan syndrome. From the charts of 180 clinically dia...

BACKGROUND The sequelae of aortic root dilation are the lethal consequences of Marfan syndrome. The root dilation is attributable to an imbalance between deposition of matrix elements and metalloproteinases in the aortic medial layer as a result of excessive transforming growth factor-beta signaling. This study examined the efficacy and mechanism of statins in attenuating aortic root dilation i...