PMID- 11339377
OWN - NLM
STAT- MEDLINE
DCOM- 20010927
LR  - 20220210
IS  - 1098-3600 (Print)
IS  - 1098-3600 (Linking)
VI  - 3
IP  - 1
DP  - 2001 Jan-Feb
TI  - Anatomic patterns of conotruncal defects associated with deletion 22q11.
PG  - 45-8
AB  - PURPOSE: Patients with cardiovascular malformations (CVMs) and deletion 22q11 
      from our series were studied in order to (1) analyze the association with 
      dysmorphic features and noncardiac anomalies, (2) identify specific cardiac 
      patterns and the distinctive association with additional CVMs. METHODS: From 1993 
      to 2000, 931 patients with CVM (95 with a clinical diagnosis of 
      DiGeorge/velocardiofacial syndrome (DG/VCFS), 208 with different genetic 
      syndromes, 628 without dysmorphic features) underwent accurate cardiac 
      assessment, clinical and phenotypical examination, and screening for deletion 
      22q11 by fluorescence in situ hybridization (FISH). RESULTS: Deletion 22q11 was 
      detected in 88 of the total patients, and in 87 of the 95 patients with a 
      clinical diagnosis of DG/VCFS. Only one patient among the 628 without dysmorphic 
      features had deletion 22q11. Conotruncal heart defects were the most common CVMs, 
      often presenting in association with additional anomalies in four areas of the 
      cardiovascular system: (1) the aortic arch can be right sided, cervical, double, 
      and the subclavian artery can be aberrant, (2) the pulmonary arteries can present 
      discontinuity, diffuse hypoplasia, discrete stenosis, defect of arborization and 
      major aortopulmonary collateral arteries (MAPCA), (3) the infundibular septum can 
      be malaligned, hypoplastic, or absent, (4) the semilunar valves can be bicuspid, 
      severely dysplastic, insufficient, or stenotic. CONCLUSION: In subjects with 
      deletion 22q11 CVM is virtually always associated with one or more noncardiac 
      anomalies. Deletion 22q11 is exceptionally rare in children with nonsyndromic 
      CVMs. Specific patterns of CVMs are observed in patients with deletion 22q11, 
      including (1) anomalies of the aortic arch, (2) anomalies of the pulmonary 
      arteries and of the pulmonary blood supply, (3) defects of the infundibular 
      septum, (4) malformations of the semilunar valves. These additional CVMs may 
      influence the surgical treatment of these patients.
FAU - Marino, B
AU  - Marino B
AD  - Department of Pediatric Cardiology, Bambino Gesu Hospital, Rome, Italy.
FAU - Digilio, M C
AU  - Digilio MC
FAU - Toscano, A
AU  - Toscano A
FAU - Anaclerio, S
AU  - Anaclerio S
FAU - Giannotti, A
AU  - Giannotti A
FAU - Feltri, C
AU  - Feltri C
FAU - de Ioris, M A
AU  - de Ioris MA
FAU - Angioni, A
AU  - Angioni A
FAU - Dallapiccola, B
AU  - Dallapiccola B
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Genet Med
JT  - Genetics in medicine : official journal of the American College of Medical 
      Genetics
JID - 9815831
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Adolescent
MH  - Aorta, Thoracic/abnormalities
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 22
MH  - DiGeorge Syndrome/*diagnosis/*genetics
MH  - Female
MH  - Genotype
MH  - Heart Defects, Congenital/*diagnosis/*genetics
MH  - Heart Septal Defects, Ventricular/diagnosis/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Infant, Newborn
MH  - Male
MH  - Phenotype
MH  - Pulmonary Atresia/diagnosis/genetics
MH  - Tetralogy of Fallot/diagnosis/genetics
MH  - Truncus Arteriosus/abnormalities
EDAT- 2001/05/08 10:00
MHDA- 2001/09/28 10:01
CRDT- 2001/05/08 10:00
PHST- 2001/05/08 10:00 [pubmed]
PHST- 2001/09/28 10:01 [medline]
PHST- 2001/05/08 10:00 [entrez]
AID - S1098-3600(21)02046-3 [pii]
AID - 10.1097/00125817-200101000-00010 [doi]
PST - ppublish
SO  - Genet Med. 2001 Jan-Feb;3(1):45-8. doi: 10.1097/00125817-200101000-00010.