Marfan syndrome (MS) is an autosomal dominant disorder that affects multiple organs and systems. Several cardiac alterations are present, with the main ones being aortic root and ascending aorta dilatation, mitral valve prolapse and left ventricle (LV) dilatation. Aerobic exercise has not shown to be a non-drug therapy that promotes anti-remodeling effect in patients with heart failure. This ca...

Marfan syndrome is an autosomal-dominant genetic disorder that affects connective tissues. Diagnosis is based on genetic history as well as major and minor clinical criteria. This article presents a case of Marfan syndrome, emphasizing the clinical manifestations of the disease, and provides an overview of oral management. Knowledge of the etiopathologic and clinical aspects of this condition i...

Marfan syndrome is an autosomal dominant disorder involving mutation in the FBN1 gene, which encodes fibrillin-1, a protein critical to maintain the integrity of connective tissue. A mutation in this gene can affect multiple organ systems, but it is not classically associated with gastrointestinal complications. We describe a man with Marfan syndrome with multiple small bowel diverticula leadin...

Marfan syndrome is an autosomal dominant inherited disorder of connective tissue, with various complications manifested primarily in the cardiovascular system. It potentially leads to aortic dissection and rupture, these being the major causes of death. We report a patient who complained of acute abdominal pain, which presented as acute mesenteric ischemia combined with abdominal aortic dissect...

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Marfan syndrome is an autosomal dominant disorder of connective tissue with up to 25% of cases related to a spontaneous mutation. It has been associated with perinatal loss, preterm labor and, potentially a rupture of the maternal aortic arch. We present a case of a woman diagnosed with Marfan syndrome after a miscarriage of her first pregnancy. At the time of diagnosis she had mild aortic bulb...

Thoracic aortic aneurysm (TAA) is the life-threatening complication of Marfan syndrome (MFS), a connective tissue disorder caused by mutations in the fibrillin-1 gene. TAA is characterized by degradation of elastic fiber, suggesting the involvement of matrix metalloproteinase (MMP)-2 and -9, the activation of which is regulated by TIMP (tissue inhibitor of MMP) types 1 and 2. We hypothesized th...

OBJECTIVE Rupture and dissection of aortic root aneurysms remain the leading causes of death in patients with the Marfan syndrome, a hereditary connective tissue disorder that affects 1 in 5000 individuals worldwide. In the present study, we use a Marfan mouse model (Fbn1(C1039G/+)) to investigate the biological importance of apoptosis during aneurysm development in Marfan syndrome. APPROACH ...

BACKGROUND/AIMS Vascular smooth muscle in Marfan syndrome, a connective tissue disorder caused by mutations in FBN1 encoding fibrillin-1, is associated with decreased tonic contraction. As Ca(2+) waves are tightly associated with vasoconstriction, we hypothesized decreased tonic contraction in Marfan syndrome is due to aberrant Ca(2+) wave signaling. METHODS Isometric force and intracellular ...

BACKGROUND To describe complications associated with Amplatzer septal occluders in a patient with Marfan syndrome CASE PRESENTATION A nine-year-old boy with Marfan syndrome and a 22 mm atrial septal defect (ASD) was treated successfully by interventional closure of his ASD by placing a 24 mm Amplatzer septal occluder. Follow up examinations showed a good result but an increasing enlargement o...