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.
CATCH 22 is a medical acronym for Cardiac defects, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcemia, and a variable deletion on chromosome 22. The deletion within the chromosome region of 22q11 may occur in patients with three well-described dysmorphologic+ cardiological syndromes: DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and conotruncal anomaly face syndrome (CTAFS). We report in detail seven infants with a deletion of the locus 22q11 showing overlapping clinical features of DGS and CTAFS with complex congenital heart defects (double outlet right ventricle, atresia or stenosis of the pulmonary valve, atrial and ventricular septal defects, patent ductus arteriosus, tetralogy of Fallot, major aortopulmonary collateral arteries, arcus aortae dexter, and persistence of the left superior vena cava). A homograft was implanted between the right ventricle and the main stem of the pulmonary artery in 2 patients, while a balloon valvuloplastic of the pulmonary valve was performed in one patient only. Pulmonary hemorrhage, acute hypoxia, and Aspergillus pneumonia were the complications. Death occurred in three out of seven patients. Recent advancements in the genetic knowledge of the locus 22q11 are described. Since the locus 22q11 is highly heterogeneous, the CATCH 22 acronym should be used and temporarily the old eponyms should be abandoned waiting for the identification of the different genes.
Sergi
C
C
Institute of Pathology, University of Heidelberg. Consolato_Sergi@med.uni-heidelberg.de
Serpi
M
M
Müller-Navia
J
J
Schnabel
P A
PA
Hagl
S
S
Otto
H F
HF
Ulmer
H E
HE
D000015:Abnormalities, Multiple / Q000145:classification / Q000235:genetics* / Q000473:pathology; D002465:Cell Movement; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics* / Q000473:pathology; D004062:DiGeorge Syndrome / Q000145:classification / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D017809:Fatal Outcome; D005260:Female; D005500:Follow-Up Studies; D006330:Heart Defects, Congenital / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D006801:Humans; D006996:Hypocalcemia / Q000235:genetics* / Q000473:pathology; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D009432:Neural Crest / Q000473:pathology; D010641:Phenotype; D017384:Sequence Deletion; D013577:Syndrome; D013950:Thymus Gland / Q000002:abnormalities*