CATCH 22 syndrome: report of 7 infants with follow-up data and review of the recent advancements in the genetic knowledge of the locus 22q11.

摘要: CATCH 22 is a medical acronym for Cardiac defects, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcemia, variable deletion on chromosome 22. The within the region of 22q11 may occur in patients with three well-described dysmorphologic+ cardiological syndromes: DiGeorge syndrome (DGS), velocardiofacial (VCFS), conotruncal anomaly face (CTAFS). We report detail seven infants locus showing overlapping clinical features DGS CTAFS complex congenital heart defects (double outlet right ventricle, atresia or stenosis pulmonary valve, atrial ventricular septal patent ductus arteriosus, tetralogy Fallot, major aortopulmonary collateral arteries, arcus aortae dexter, persistence left superior vena cava). A homograft was implanted between ventricle main stem artery 2 patients, while balloon valvuloplastic valve performed one patient only. Pulmonary hemorrhage, acute hypoxia, Aspergillus pneumonia were complications. Death occurred out patients. Recent advancements genetic knowledge are described. Since highly heterogeneous, should be used temporarily old eponyms abandoned waiting identification different genes.