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Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. [ 6 ] [ 7 ] [ 1 ] Those with the condition tend to be tall and thin, with long arms, legs , fingers, and toes . [ 1 ]
People with symptoms suggestive of thoracic aortic dissection should be routinely evaluated "to establish a pretest risk of disease that can then be used to guide diagnostic decisions." People diagnosed with Marfan syndrome should immediately have an echocardiogram to measure the aorta and followed up six months later to check for aortic ...
Connective tissue disorders such as Marfan syndrome, Ehlers–Danlos syndrome, and Loeys–Dietz syndrome increase the risk of aortic dissection. [13] Similarly, vasculitides such as Takayasu's arteritis , giant cell arteritis , polyarteritis nodosa , and Behçet's disease have been associated with a subsequent aortic dissection.
Risk factors include cigarette smoking, extreme alcoholism, advanced age, dyslipidemia, hypertension, and coronary artery disease. [4] The pathophysiology of the disease is related to an initial arterial insult causing a cascade of inflammation and extracellular matrix protein breakdown by proteinases leading to arterial wall weakening. [5]
Heritable connective tissue diseases are rare, each disorder estimated at one to ten per 100,000, of which Marfan syndrome is the most common. It is carried by the FBN1 gene on chromosome 15, which encodes the connective protein fibrillin-1, [ 12 ] [ 13 ] inherited as a dominant trait.
Congenital contractural arachnodactyly (CCA), also known as Beals–Hecht syndrome, is a rare autosomal dominant congenital connective tissue disorder. [1] As with Marfan syndrome , people with CCA typically have an arm span that is greater than their height and very long fingers and toes . [ 2 ]
Risk factors include certain infections during pregnancy such as rubella, use of certain medications or drugs such as alcohol or tobacco, parents being closely related, or poor nutritional status or obesity in the mother. [3] [5] Having a parent with a congenital heart defect is also a risk factor. [12]
The syndromic variant may occur with greater frequency in individuals with Ehlers-Danlos syndrome, Marfan syndrome, [24] Loeys–Dietz syndrome, [23] Williams–Beuren syndrome [25] [23] or polycystic kidney disease. [26] Other risk factors include Graves' disease [27] and chest wall deformities such as pectus excavatum. [28]