It is the least common form of this group of lesions, which only represents 6% of. Congenital supravalvular aortic stenosis and sudden death. Supravalvular aortic stenosis svas is a type of heart defect that develops before birth. Supravalvular aortic stenosis genetics home reference nih. Estenosis aortica, valvulopatia, angina, tavi, calcificacion valvular. Aortic stenosis is one of the most frequent valvulopathies.
Pathology of coronary arteries, myocardium, and great arteries in supravalvular aortic stenosis. Get a printable copy pdf file of the complete article 1. It is characterized by a narrowing stenosis of the section of the aorta. An explanation of asymmetric upper extremity blood pressures in supravalvular aortic stenosis. Links to pubmed are also available for selected references. It is characterized by a narrowing stenosis of the section of the aorta just above the valve that connects the aorta to the heart aortic valve. The cove point foundation congenital heart resource center is the worlds largest resource for information on pediatric and adult congenital heart disease. Cove point contains comprehensive information on all congenital heart defects, including atrial septal defect asd, ventricular septal defect vsd, hypoplastic left heart syndrome hlhs, and tetralogy of fallot tof. Estenosis aortica valvular, subvalvular y supravalvular dra. Supravalvular aortic stenosis surgical repair using. Supravalvular aortic stenosis svas can either be isolated or can occur as part of williams syndrome. Body habitus of patient showing elfin facies, short stature and steatopygia. Since 1961, 25 patients aged 1 to 49 years with documented supravalvular aortic. Estenosis supravalvular aortica descargar pdf definicion.
The syndrome of supravalvular aortic stenosis, peripheral pulmonary stenosis, mental retardation and. The condition is described as supravalvular because the section of the aorta that is narrowed is located just above the valve. Iphd in sciences by the discipline of thoracic and cardiovascular surgery at. The surgical treatment of supravalvular aortic stenosis. Estenosis supravalvular aortica asociada a endocarditis infecciosa y enfermedad. Elastin, supravalvular aortic stenosis, peripheral pulmonary artery stenosis, eln excluded diseases supravalvular aortic stenosis svas should be differentiated from.
It is often associated with other cardiovascular anomalies and is one of the characteristic findings of williams syndrome. This defect is a narrowing stenosis of the large blood vessel that carries blood from the heart to the rest of the body the aorta. Supravalvar aortic stenosis svas is a fixed form of congenital left ventricular outflow tract lvot obstruction that occurs as a localized or diffuse narrowing of the ascending aorta beyond the superior margin of the sinuses of valsalva. A estenosis supravalvular b estenosis valvular c estenosis subvalvular. Report of five cases with implications for surgical treatment. Supravalvular aortic stenosis has a wide range of clinical and morphologic expression. A 5yearold male patient presented a diagnosis of supravalvular aortic stenosis. Supravalvar aortic stenosis svas is a rare anomaly of the aortic root caused by a genetically based deficiency in elastin production. Isolated svas can be caused by mutations in the eln gene and may be inherited in an autosomal dominant manner.
Supravalvular aortic stenosis svas is a heart defect that develops before birth. Supravalvar aortic stenosis in infancy request pdf. It accounts for less than 7% of all fixed forms of congenital lvot obstructive lesions. B establecer diagnostico diferencial entre estenosis aortica valvular, subvalvular y supravalvular.
Supravalvular adult aortic stenosis in the a case presentation with unique associated features j. Supravalvar aortic stenosis svas is a fixed form of congenital left ventricular outflow tract lvot obstruction that occurs as a localized or diffuse narrowing of the ascending aorta beyond the superior margin of the sinuses of. Estenosis aortica sistema cardiovascular enfermedades. B clase ii pacientes con coartacion aortica, debido a su frecuente asociacion con valvula aortica. Supravalvular aortic stenosis genetic and rare diseases.194 1527 624 535 1137 324 88 836 1410 1014 273 962 1506 819 272 431 98 738 569 248 1517 979 1506 877 1037 193 1562 237 664 836 1097 1204 48 707 1042 346 1154 1278 1439 1211 571