[Congenital cardiopathies and syndromes in adults].
Among congenital defects the most common are the congenital heart defects, which constitute a heterogeneous group with a multifactor etiology. A single gene mutation has been identified in some of them, such as in of Williams's syndrome, or they can be due to teratogenic agents. The advance in diagnosis and treatment of congenital heart defects has become very important because mortality has diminished and patients live longer and better, reaching adult hood. Molecular biology offers now opportunities understand the cause of many genetic diseases thanks to molecular studies of chromosomes. Conotruncal malformations are known to be caused by a microdeletion in chromosome 22(22q11), this mutation is also responsible for the DiGeorge and cardiovelofacial syndromes, the most relevant aspects are: congenital heart disease, which is present in 75% of the cases, the leading disorder is Fallot's tetralogy with pulmonary atresia, in second place is interruption of the aortic arch type B, followed by common truncus arteriosus. These patients have other phenotypic features, such as high palate, speech problems, malimplantation of ears, and protuberant nose tip, among others. Diagnosis is made with the FISH (fluorescent in situ hybridization) test that shows a microdeletion in chromosome 22 at the 11.2 region. Another syndrome that has received great attention is the Williams-Beuren syndrome, which courses with mental retardation, hypercalcemia, characteristic facies, and supravalvular aortic and pulmonary stenosis. To day, it is known that its cause is a deletion in chromosome 7(7q11.23), which affects elastin region, in consequence, affecting the vessels.
Calderón Colmenero
Juan
J
Servicio Cardiología Pediátrica, Instituto Nacional de Cardiologia Ignacio Chávez, INCICH, Juan Badiano No. 1, Col. Sección XVI, Tlalpan, 14080 México, D. F.
D000328:Adult; D006331:Heart Diseases / Q000151:congenital*; D006801:Humans; D013577:Syndrome