PMID- 15708709
OWN - NLM
STAT- MEDLINE
DCOM- 20050317
LR  - 20220311
IS  - 0735-1097 (Print)
IS  - 0735-1097 (Linking)
VI  - 45
IP  - 4
DP  - 2005 Feb 15
TI  - Prevalence and clinical manifestations of 22q11.2 microdeletion in adults with 
      selected conotruncal anomalies.
PG  - 595-8
AB  - OBJECTIVES: This study was designed to determine the prevalence and clinical 
      manifestations of 22q11.2 microdeletion in adults with selected conotruncal 
      anomalies and to assess the clinician's ability to predict the presence or 
      absence of 22q11.2 microdeletion on the basis of clinical features. BACKGROUND: 
      It is known that 22q11.2 microdeletion is a chromosomal anomaly with cardiac and 
      extracardiac manifestations. The prevalence and manifestations in adults have not 
      been well characterized. METHODS: A total of 103 consecutive adults with either 
      tetralogy of Fallot (TOF), pulmonary atresia/ventricular septal defect (PA/VSD), 
      or truncus arteriosus (TA) were prospectively screened for 22q11.2 microdeletion 
      using a fluorescence in situ hybridization (FISH) assay. Clinicians were asked to 
      predict 22q11.2 microdeletion status on the basis of clinical features. A 
      geneticist blinded to FISH assay results reviewed photographs of the patients for 
      typical dysmorphic features of 22q11.2 microdeletion. RESULTS: Six patients 
      (prevalence 5.8%, 95% confidence interval 1.3 to 10.3) had 22q11.2 microdeletion 
      (3 with TOF, 2 with PA/VSD, 1 with TA). In two of these patients, the clinician 
      incorrectly predicted absence of the deletion. In three, typical dysmorphic 
      features of 22q11.2 microdeletion were absent. CONCLUSIONS: Our work showed that 
      22q11.2 microdeletion is under-recognized in adults with congenital heart 
      disease. The absence of typical phenotypic features makes it difficult to 
      correctly predict if the deletion is present. Screening for 22q11.2 microdeletion 
      should be considered in adults with high-risk cardiac lesions, as it has 
      important implications in reproductive counseling and surveillance for associated 
      extracardiac manifestations.
FAU - Beauchesne, Luc M
AU  - Beauchesne LM
AD  - Division of Cardiology, University of Ottawa Heart Institute, Ottawa, Ontario, 
      Canada. lbeauchesne@ottawaheart.ca
FAU - Warnes, Carole A
AU  - Warnes CA
FAU - Connolly, Heidi M
AU  - Connolly HM
FAU - Ammash, Naser M
AU  - Ammash NM
FAU - Grogan, Martha
AU  - Grogan M
FAU - Jalal, Syed M
AU  - Jalal SM
FAU - Michels, Virginia V
AU  - Michels VV
LA  - eng
PT  - Journal Article
PL  - United States
TA  - J Am Coll Cardiol
JT  - Journal of the American College of Cardiology
JID - 8301365
SB  - IM
CIN - J Am Coll Cardiol. 2005 Sep 20;46(6):1114-5; author reply 1115. PMID: 16168302
MH  - Abnormalities, Multiple/epidemiology/*genetics
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 22/*genetics
MH  - Female
MH  - Heart Septal Defects, Ventricular/complications/epidemiology/*genetics
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Phenotype
MH  - Prevalence
MH  - Prospective Studies
MH  - Pulmonary Atresia/complications/epidemiology/*genetics
MH  - Syndrome
MH  - Tetralogy of Fallot/complications/epidemiology/*genetics
MH  - Truncus Arteriosus, Persistent/complications/epidemiology/*genetics
EDAT- 2005/02/15 09:00
MHDA- 2005/03/18 09:00
CRDT- 2005/02/15 09:00
PHST- 2004/06/21 00:00 [received]
PHST- 2004/09/29 00:00 [revised]
PHST- 2004/10/26 00:00 [accepted]
PHST- 2005/02/15 09:00 [pubmed]
PHST- 2005/03/18 09:00 [medline]
PHST- 2005/02/15 09:00 [entrez]
AID - S0735-1097(04)02249-1 [pii]
AID - 10.1016/j.jacc.2004.10.056 [doi]
PST - ppublish
SO  - J Am Coll Cardiol. 2005 Feb 15;45(4):595-8. doi: 10.1016/j.jacc.2004.10.056.