Tetralogy of Fallot associated with chromosome 22q11.2 deletion in adolescents and young adults

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 ϭ 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 Ϯ 13 (mean Ϯ 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. Genetics in About 15% of patients with tetralogy of Fallot have deletion of chromosome 22q11.2. 1,2 The incidence of deletion is higher in tetralogy of Fallot with pulmonary atresia. About 50% of patients with tetralogy of Fallot, pulmonary atresia, and major aortopulmonary collateral artery show deletion of chromosome 22q11.2. 4 Tetralogy of Fallot with the deletion is usually associated with additional anomalies of the aortic arch, its branches, the pulmonary artery, and the ductus arteriosus. [5][6][7] . In addition, extracardiac anomalies, 8,9 progressive mental retardation 10,11 and development of psychiatric disease in adolescents [12][13][14][15][16] are additional clinical features of the deletion. Therefore, long-term prognosis of patients with tetralogy and the deletion is an issue to be clarified. To shed further light on this issue, clinical profiles of adolescents and young adults with tetralogy of Fallot and the dele...

The Fate of Children with Microdeletion 22q11.2 Syndrome and Congenital Heart Defect: Clinical Course and Cardiac Outcome

“…The retrospective nature of the study did not allow us to evaluate this particular aspect in detail because the importance of neurodevelopmental and social outcome has been recognized only recently and still is a subject of evaluation. Moreover, psychosocial deficits may become more evident during adulthood, when the patients are expected to function more independently in daily life [23]. Another burden for these patients is the risk for developing significant psychological disabilities, with schizophrenia occurring in up to 30% of the adult patients [3,12,17].…”

ACC/AHA 2008 Guidelines for the Management of Adults With Congenital Heart Disease

“…70 Patients with a history of type B interrupted aortic arch or truncus arteriosus also have a high incidence of DiGeorge syndrome. Many patients with this chromosome deletion show impairment in social function.…”

“…Coexisting diseases associated with these overlapping syndromes include schizophrenia, mental disability, deafness, immune deficiencies, endocrinopathies, and clubbed foot. 70 Williams syndrome is a developmental disorder that involves connective tissue, the central nervous system, and supravalvular AS (SupraAS); it has been associated with a chromosome deletion in band 7q11. 23.…”

“…23. 70 Most Williams syndrome patients have a lack of social inhibition and some degree of mental disability that complicates planning and self-management. Adults with other syndromes, including Noonan and Turner syndromes, have varying degrees of cognitive deficits.…”

Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome

“…On the other hand, discontinuous pulmonary arteries, unilateral absence of pulmonary artery, or multiple pulmonary blood supply in the form of major aorto-pulmonary collaterals were reported [Momma et al, 1995;Johnson et al, 1995;Marino et al, 1996].…”