| D008382 |
Marfan Syndrome |
An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2. |
Marfan Like Connective Tissue Disorder,Marfan Syndrome Type 1,Marfan Syndrome Type 2,Marfan Syndrome, Type II,Marfan Syndrome, Type I,Marfan's Syndrome,Marfans Syndrome |
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| D008875 |
Middle Aged |
An adult aged 45 - 64 years. |
Middle Age |
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| D005260 |
Female |
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Females |
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| D006348 |
Cardiac Surgical Procedures |
Surgery performed on the heart. |
Cardiac Surgical Procedure,Heart Surgical Procedure,Heart Surgical Procedures,Procedure, Cardiac Surgical,Procedure, Heart Surgical,Procedures, Cardiac Surgical,Procedures, Heart Surgical,Surgical Procedure, Cardiac,Surgical Procedure, Heart,Surgical Procedures, Cardiac,Surgical Procedures, Heart |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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| D001014 |
Aortic Aneurysm |
An abnormal balloon- or sac-like dilatation in the wall of AORTA. |
Aneurysm, Aortic,Aneurysms, Aortic,Aortic Aneurysms |
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| D001021 |
Aortic Valve |
The valve between the left ventricle and the ascending aorta which prevents backflow into the left ventricle. |
Aortic Valves,Valve, Aortic,Valves, Aortic |
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| D012850 |
Sinus of Valsalva |
The dilatation of the aortic wall behind each of the cusps of the aortic valve. |
Aortic Sinus,Sinus, Aortic,Valsalva Sinus |
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