PMID- 11339379
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  - Tetralogy of Fallot associated with chromosome 22q11.2 deletion in adolescents 
      and young adults.
PG  - 56-60
AB  - PURPOSE: To clarify the clinical profiles of adolescents and young adults with 
      tetralogy and 22q11.2 deletion, which has recently been identified as a cause of 
      tetralogy of Fallot in about 15% of patients. METHODS: Thirty-four patients with 
      22q11.2 deletion and tetralogy of Fallot, with or without pulmonary atresia, 
      including 15 males and 19 females, with their age ranging from 16 to 35 years 
      (mean = 25) were studied. Main outcome measurements include chromosome deletion 
      identified by fluorescence in situ hybridization (FISH) of peripheral blood 
      lymphocytes, medical states assessed with New York Heart Association 
      classification, social activity assessed with Warnes index, IQ assessed by 
      Wechsler test. RESULTS: Eighteen of 20 patients with tetralogy and pulmonary 
      stenosis had cardiac repair, and their cardiac conditions were good except one. 
      Of 14 patients with tetralogy with pulmonary atresia, 7 had Rastelli type cardiac 
      repair and were doing well, although 4 of them needed re-operation for conduit 
      stenosis. No cardiac repair was done in the other 7 patients with tetralogy, 
      pulmonary atresia and major collateral arteries because their peripheral 
      pulmonary arteries were too small. In 28 of the 34 patients (82%), overall social 
      activity was limited because of extracardiac diseases, including deafness, club 
      feet, mental retardation, and schizophrenia. The IQ in 17 patients was 59 +/- 13 
      (mean +/- SD): range 41 to 79. In two patients, repeated IQ study showed a 
      decrease. Four patients developed schizophrenia. CONCLUSION: Tetralogy with 22q11 
      deletion can be repaired surgically except in those patients with pulmonary 
      atresia, major collateral arteries, and small peripheral pulmonary arteries. 
      However, most of the adult patients show an inability to function in social life 
      in contrast to most patients with tetralogy but without the deletion, who have a 
      normal social life. Extracardiac diseases, including deafness, club feet, mental 
      retardation, and schizophrenia were major handicaps limiting full social 
      activities in postoperative adolescents and young adults with 22q11.2 deletion 
      and tetralogy.
FAU - Momma, K
AU  - Momma K
AD  - Department of Pediatric Cardiology, Tokyo Women's Medical University, Japan.
FAU - Takao, A
AU  - Takao A
FAU - Matsuoka, R
AU  - Matsuoka R
FAU - Imai, Y
AU  - Imai Y
FAU - Muto, A
AU  - Muto A
FAU - Osawa, M
AU  - Osawa M
FAU - Takayama, M
AU  - Takayama M
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Genet Med
JT  - Genetics in medicine : official journal of the American College of Medical 
      Genetics
JID - 9815831
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Age Factors
MH  - *Chromosome Deletion
MH  - *Chromosomes, Human, Pair 22
MH  - Deafness
MH  - Facies
MH  - Female
MH  - Heart Defects, Congenital/diagnosis/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Mental Processes
MH  - Psychological Tests
MH  - Sex Factors
MH  - Tetralogy of Fallot/*diagnosis/*genetics
MH  - Time Factors
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)02048-7 [pii]
AID - 10.1097/00125817-200101000-00012 [doi]
PST - ppublish
SO  - Genet Med. 2001 Jan-Feb;3(1):56-60. doi: 10.1097/00125817-200101000-00012.