elastin and Diseases-in-Twins

elastin has been researched along with Diseases-in-Twins* in 2 studies

Reviews

1 review(s) available for elastin and Diseases-in-Twins

Article	Year
Genetic aspects of abdominal aortic aneurysm. Annals of the New York Academy of Sciences, 1996, Nov-18, Volume: 800 Topics: Aged; Aortic Aneurysm, Abdominal; Chromosome Mapping; Collagen; Diseases in Twins; Elastin; Extracellular Matrix Proteins; Female; Fibrillins; Humans; Male; Metalloendopeptidases; Microfilament Proteins; Middle Aged; Nuclear Family	1996

Other Studies

1 other study(ies) available for elastin and Diseases-in-Twins

Article	Year
Severely calcified valvular aortic stenosis firstly diagnosed in monozygotic male twins with suspected Williams-Beuren syndrome. Japanese heart journal, 2004, Volume: 45, Issue:5 Williams-Beuren syndrome is a rare and usually sporadic genetic anomaly with an estimated frequency of 1:25,000, that also has cardiac defects due to the effect on the elastin locus of a deletion on the 7th chromosome. Identical twin boys presented with exercise-induced syncope. Echocardiographic examination revealed severe calcification at the aortic valves, mitral anterior leaflets, and mitral annuli in both cases. A basal interventricular septum was also involved in one case. Doppler evaluation demonstrated severe aortic stenosis with a peak gradient of 112 and 118 mmHg in both cases. Moderate mitral stenosis was also detected in one twin. We performed aortic mechanical valve replacement and dilated the aortic annulus with Nick's procedure and evaluated the diagnosis and therapy methods in light of the literature. As a result, we determined that these boys are the first monozygotic twins who were diagnosed during childhood. Topics: Aortic Valve; Aortic Valve Stenosis; Calcinosis; Diseases in Twins; Elastin; Gene Deletion; Heart Valve Prosthesis Implantation; Humans; Male; Mitral Valve Stenosis; Twins, Monozygotic; Williams Syndrome	2004

Article

Year

Severely calcified valvular aortic stenosis firstly diagnosed in monozygotic male twins with suspected Williams-Beuren syndrome.

Japanese heart journal, 2004, Volume: 45, Issue:5

Williams-Beuren syndrome is a rare and usually sporadic genetic anomaly with an estimated frequency of 1:25,000, that also has cardiac defects due to the effect on the elastin locus of a deletion on the 7th chromosome. Identical twin boys presented with exercise-induced syncope. Echocardiographic examination revealed severe calcification at the aortic valves, mitral anterior leaflets, and mitral annuli in both cases. A basal interventricular septum was also involved in one case. Doppler evaluation demonstrated severe aortic stenosis with a peak gradient of 112 and 118 mmHg in both cases. Moderate mitral stenosis was also detected in one twin. We performed aortic mechanical valve replacement and dilated the aortic annulus with Nick's procedure and evaluated the diagnosis and therapy methods in light of the literature. As a result, we determined that these boys are the first monozygotic twins who were diagnosed during childhood.

Topics: Aortic Valve; Aortic Valve Stenosis; Calcinosis; Diseases in Twins; Elastin; Gene Deletion; Heart Valve Prosthesis Implantation; Humans; Male; Mitral Valve Stenosis; Twins, Monozygotic; Williams Syndrome

2004