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Chapter
Meester-Loeys Syndrome
Meester-Loeys syndrome is an X-linked form of syndromic thoracic aortic aneurysm, characterized by the involvement of multiple organ systems. More specifically, the cardiovascular, skeletal, craniofacial, cuta...
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Chapter
Pathophysiology and Principles of Management of Hereditary Aneurysmal Aortopathies
Aortic aneurysm refers to a pathological dilatation of the aorta and predisposes to rupture and dissection. It is an important health problem, accounting for 1–2% of all deaths in the Western population. Thora...
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Chapter
Bicuspid Aortic Valve
An aortic valve typically consists of three leaflets: two are named after their orientation relative to the left and right coronary artery, while the third is called the non-coronary cusp. In 0.5–2% of the gen...
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Chapter
Clinical Aspects of Heritable Connective Tissue Disorders
Connective tissue surrounds, supports, and connects a multitude of tissues and organs. It is composed of a cellular component (mostly fibroblasts) and extracellular matrix, with the latter consisting of fibers...
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Chapter
Genetics of Marfan Syndrome and Loeys-Dietz Syndrome
Marfan syndrome (MFS) and Loeys-Dietz syndrome (LDS) are two clinically related aortic aneurysm conditions. LDS shows significant clinical overlap with MFS as regards its vascular and skeletal features, includ...
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Chapter
Bicuspid Aortic Valve
An aortic valve typically consists of three valve leaflets, named after their orientation relative to the left and right coronary artery. In 0.5–2 % of the general population, the aortic valve comprises only t...