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Titolo:
Tetralogy of Fallot associated with chromosome 22q11.2 deletion in adolescents and young adults
Autore:
Momma, K; Takao, A; Matsuoka, R; Imai, Y; Muto, A; Osawa, M; Takayama, M;
Indirizzi:
Tokyo Womens Med Univ, Dept Pediat Cardiol, Shinjuku Ku, Tokyo, Japan Tokyo Womens Med Univ Tokyo Japan at Cardiol, Shinjuku Ku, Tokyo, Japan Tokyo Womens Med Univ, Dept Pediat Cardiac Surg, Shinjuku Ku, Tokyo, JapanTokyo Womens Med Univ Tokyo Japan rdiac Surg, Shinjuku Ku, Tokyo, Japan Tokyo Womens Med Univ, Dept Pediat, Shinjuku Ku, Tokyo, Japan Tokyo WomensMed Univ Tokyo Japan ept Pediat, Shinjuku Ku, Tokyo, Japan Tokyo Womens Med Univ, Dept Otolaryngol, Shinjuku Ku, Tokyo, Japan Tokyo Womens Med Univ Tokyo Japan tolaryngol, Shinjuku Ku, Tokyo, Japan
Titolo Testata:
GENETICS IN MEDICINE
fascicolo: 1, volume: 3, anno: 2001,
pagine: 56 - 60
SICI:
1098-3600(200101/02)3:1<56:TOFAWC>2.0.ZU;2-3
Fonte:
ISI
Lingua:
ENG
Soggetto:
VENTRICULAR SEPTAL-DEFECT; AORTOPULMONARY COLLATERAL ARTERIES; CARDIO-FACIAL SYNDROME; ANOMALY FACE SYNDROME; PULMONARY ATRESIA; PSYCHIATRIC-DISORDERS; PHENOTYPE; SPECTRUM;
Keywords:
chromosome 22; 22q11.2 deletion; tetralogy of Fallot;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
21
Recensione:
Indirizzi per estratti:
Indirizzo: Momma, K Tokyo Womens Med Univ, Dept Pediat Cardiol, Shinjuku Ku, Kawadacho 8-1, Tokyo, Japan Tokyo Womens Med Univ Kawadacho 8-1 Tokyo Japan 1, Tokyo, Japan
Citazione:
K. Momma et al., "Tetralogy of Fallot associated with chromosome 22q11.2 deletion in adolescents and young adults", GENET MED, 3(1), 2001, pp. 56-60

Abstract

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 becauseof 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.

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Documento generato il 26/01/20 alle ore 00:57:19