Abstract 10973: Long-Term Survival and Quality of Life of Patients with Chromosome 22q11.2 Deletion Syndrome: A Multi-Center Study
Backgrounds: Chromosome 22q11.2 deletion syndrome (DS) is associated with various phenotypes such as congenital heart diseases (CHD), mental retardation, and mental illness. Long-term survival and quality of life of DS have not been studied.
Methods: We conducted a retrospective, multi-center study consisting of 283 pts with DS, seen consecutively from1974 to 2010 at 10 institutions. Mean age at the time of the study was13+/-10 yrs, ranging 0.1 to 43 yrs. Age-matched control group consisted of 287 pts without DS, mainly with tetralogy of Fallot (TF) without major aortopulmonary collateral arteries (MAPCA) (88%). CHD in DS consisted of TF without MAPCA (40%), TF with MAPCA (26%), ventricular septal defect (VSD) (19%), and interruption of aortic arch (IAA) (8%). No operation or only palliative operations had been performed in 11% of pts with DS, and more definitive operations such as intracardiac repair, Rastelli operation, and/or arch repair had been performed, with or without previous palliations, in most of remaining pts.
Results: Kaplan-Meier survival rate of all pts with DS was 95% at 10 yrs, 93% at 20 yrs, and 91% at 30 yrs of age, and was significantly lower than that of control. Among DS, survival rate of pts with TF with MAPCA and that of pts with IAA were not significantly different from that with TF without MAPCA. The rate of freedom from heart failure symptoms in DS was 93% at 10 yrs, 91% at 20 yrs, and 88% at 30 yrs of age, and that was significantly lower than control. At the time of the study, 31% of pts were on anti-heart failure drugs. Mean IQ in DS was 66+/-19. The rate of freedom from mental illness in DS was 100% at 10 yrs, 91% at 20 yrs, and 68% at 30 yrs of age, and that was significantly lower than control. Mental illness included schizophrenia (50%) and depression (36%). Among pts >20 yrs of age, 9% had full-time job, 18% had part-time job, and 30% were unemployed. The unemployment rate was higher than control (19%).
Conclusions: Although mortality and morbidity in DS are higher than in non-DS, long-term survival in these pts is generally good. Higher mortality and morbidity in DS may not be due to more complex CHD, such as IAA and MAPCA. Mental illness, which becomes common in adulthood, and mental retardation may reduce quality of life including unemployment in DS.
- © 2011 by American Heart Association, Inc.