Importance of Early Detection and Cardiovascular Surgical Intervention in Marfan Syndrome

Abstract

Marfan syndrome is an autosomal dominant connective tissue disorder that affects multiple systems, including the skeletal, ligamentous, oculofacial, pulmonary, abdominal, neurological, and cardiovascular systems. Cardiovascular complications, which involve the aorta and aortic valve, contribute most significantly to patient morbidity and mortality. A literature review was conducted on pathophysiology of the disease and recommendations for early diagnosis and treatment. Diagnosis largely relies on clinical features and a thorough history. Echocardiogram is used for monitoring aortic abnormalities and disease progression. Aortic valve-sparing surgery is indicated in any valvular abnormality and in patients with a murmur. Aortic root replacement is indicated prophylactically in women who want to give birth with diameters greater than 40 mm, anyone with a diameter greater than 50 mm, and progressive dilatation of greater than 5 mm per year. Medical management involves antihypertensive therapy. It is imperative for all health care providers to understand the clinical features, progression, and management of Marfan syndrome to appropriately care for their patients. Ensuring regular follow-up and adherence to medical and surgical prophylaxis is essential to patient well-being.

Orthodontic-surgical treatment of a patient with Marfan Syndrome and Obstructive Sleep Apnea Syndrome: a case report with a 9-year follow-up

“…Marfan Syndrome (MFS) is an inherited disorder characterized by an imperfection in the connective tissue due to poor processing of fibrillin-1, a glycoprotein essential for the production of elastic fibers, resulting in tissue laxity, which can mainly affect the cardiovascular, musculoskeletal and ocular systems, as well as skin, dura mater and respiratory systems [1][2][3][4][5]. Clinically, the patients may have high stature relative to age, scoliosis, excessive bone growth, dolichostenomelia, arachnodactyly, hypermobile joints, increased skin elasticity, myopia, and lens luxations [2][3][4][5][6].…”