![]() ![]() Since it was first identified as the main cause of Marfan syndrome, FBN1 mutations, depending on how it is mutated, were linked to a variety of syndromes and phenotypes. In addition, in <10% of Marfan cases, no mutation of FBN1 was determined. While patients with Marfan phenotypes usually have an affected family member, 25% of the cases are sporadic due to de novo mutations. ![]() Īlthough the inheritance pattern is predominantly autosomal dominant, rare cases of autosomal recessive FBN1 gene mutations has been described. The widely accepted incidence of Marfan syndrome is ~1 in 5000 individuals. Its inheritance is almost exclusively autosomal dominant and mostly involves a mutation of the fibrillin-1 (FBN1) gene encoding the connective tissue structural protein fibrillin-1. MFS is the most common genetic cause of thoracic aortic aneurysms (TAAs). MFS is one of the most common hereditary disorders of connective tissues and is characterized by manifestations in cardiovascular, skeletal, and ocular systems. The aim of this chapter is to review the most common conditions associated with AoD, appropriate imaging modalities, and treatment strategies to manage AoD. ![]() Due to the variety of clinical conditions that can result in AoD, and the risks associated with worsening AoD, a thorough understanding of the pathophysiology of AoD, noninvasive imaging modalities and pharmacologic therapies is critical. The etiology of pathological AoD is varied, ranging from congenital, infectious, autoimmune, and idiopathic conditions and influences the medical and surgical management. However, while natural variations in the size of the aortic root are well known, the identification of progression from normal to pathologic AoD is a key clinical diagnosis that carries significant cardiovascular risk including aortic dissection, rupture, valvular regurgitation and cardiac tamponade. The anatomy of the aortic root includes the annulus, sinuses of Valsalva, sinotubular junction and ascending aorta, with the size being a function of a patient’s biologic variables such as height, age, BSA, and gender. This and other strenuous resistance training may raise your risk of aortic dissection by increasing blood pressure during the activity.Aortic root dilation (AoD) is frequently an incidentally discovered, asymptomatic finding in that is seen on various imaging modalities. Infrequently, aortic dissections occur in otherwise healthy women during pregnancy. This drug temporarily raises blood pressure. Aortic dissection is more likely in people age 60 and older. Men are more likely to have aortic dissection than women. Other potential risk factors for aortic dissection include: Inflammation of the arteries (giant cell arteritis) may also increase your risk of aortic dissection. This includes Ehlers-Danlos syndrome, a group of connective tissue disorders that involve loose joints and fragile blood vessels and Loeys-Dietz syndrome, which causes twisted arteries, especially in the neck. People with this disorder often have a family history of aneurysms of the aorta and other blood vessels or family history of aortic dissections. This is a condition in which connective tissue, which supports various structures in the body, is weak. High blood pressure, heart problems and other health conditions may result from this disorder.
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