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Variations in these genes usually alter the structure, production, or processing of collagen or proteins that interact with collagen. Collagen provides structure and strength to connective tissue. A defect in collagen can weaken connective tissue in the skin, bones, blood vessels, and organs, resulting in the features of the disorder. [1]
Cardiac fibrosis. Cardiac fibrosis commonly refers to the excess deposition of extracellular matrix in the cardiac muscle, but the term may also refer to an abnormal thickening of the heart valves due to inappropriate proliferation of cardiac fibroblasts. [1] Fibrotic cardiac muscle is stiffer and less compliant and is seen in the progression ...
Connective tissue disease, also known as connective tissue disorder, or collagen vascular diseases, refers to any disorder that affect the connective tissue. [1] The body's structures are held together by connective tissues, consisting of two distinct proteins: elastin and collagen. Tendons, ligaments, skin, cartilage, bone, and blood vessels ...
Collagen, a popular supplement for skin and joints, can also support the heart by balancing blood pressure, improving cholesterol, and more. Collagen, a popular supplement for skin and joints, can ...
Frequency. 1 in 5,000–10,000 [ 4 ] 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 ] They also typically have exceptionally flexible joints and abnormally curved spines. [ 1 ]
Loeys–Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. It has features similar to Marfan syndrome and Ehlers–Danlos syndrome. [3][4][5] The disorder is marked by aneurysms in the aorta, often in children, and the aorta may also undergo sudden dissection in the weakened layers of the wall of the aorta.