Snapshot A 30-year-old man with a marfanoid habitus presents for genetic counseling. His father, paternal uncle, and paternal great-grandfather died of sudden cardiac deaths. His father, specifically, suffered from an aortic dissection. As part of this patient's work-up, he recently had cardiac imaging, which reveals a 5 cm aortic aneurysm. He is sent for further surgical consultation and is tested for suspected Marfan syndrome. Overview Introduction Clinical definition inherited connective tissue disorder characterized by aortic abnormalities and musculoskeletal deformities Epidemiology demographics clinical manifestations typically occur in adulthood Pathogenesis fibrillins form a major part of connective tissues and provide structural support and elasticity to blood vessels, skin, and bones abnormalities in fibrillin can result in aortic abnormalities (cystic medial necrosis) ectopic lens (structural weakness in ligaments of the lens) skeletal deformities Genetics inheritance pattern autosomal dominant mutations FBN1 gene is on chromosome 15 and encodes fibrillin-1, a glycoprotein that forms a protective sheath around elastin elastin is found in multiple parts of the body, including large arteries, skin, lungs, and ligaments Prognosis survival has improved with better management of aortic disease with early diagnosis and management, patients often have a normal life expectancy Presentation Physical exam skeletal tall and thin stature long extremities arm span exceeds height long fingers and toes (arachnodactyly) thumbnail protrudes beyond ulnar border of hand when crossed (thumb sign) thumb and little finger can encircle wrist (wrist sign) pectus carinatum or excavatum scoliosis hypermobile joints ocular subluxation of lenses (superior and temporal) cardiovascular mitral valve prolapse mid-systolic click followed by a late systolic murmur aortic regurgitation diastolic murmur mitral regurgitation high-pitched holosystolic murmur Imaging Transthoracic echocardiography indication for all patients to evaluate for cardiac involvement findings mitral or aortic valve abnormalities aortic aneurysm or dissection Studies Making the diagnosis based on clinical presentation genetic testing is not always necessary but is diagnostic Differential Ehlers-Danlos syndrome distinguishing factor hyperextensible skin and easy bruising middle-sized artery aneurysms > aortic aneurysms Treatment Management approach no curative treatment exists, so treatment is targeted at symptoms Conservative avoid high-impact contact sports indication for all patients Medical β-blockers or angiotensin receptor blockers indications to halt the progression of aortic root dilation Operative aortic aneurysm repair indication patients with aneurysms ≥ 4-4.5 cm Complications Aortic dissection most common cause of death Congestive heart failure from cardiac valve abnormalities
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All Videos (1) Login to View Community Videos Login to View Community Videos Marfan Syndrome MSK - Marfan Syndrome D 7/29/2018 160 views 5.0 (2)