Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study.
Bottom Line: Case fatality rate was calculated and compared with national vital statistics.Fatality rate and associated factors. 59 of 419 patients (14.1%) died during the study period at a median of 3.4 months (range 0 to 32 years of age).These observations indicate a need to identify patients who may require specific perioperative management to improve survival.
Affiliation: Facultad de Medicina, Center for Genetics and Genomics, Clinica Alemana Universidad del Desarrollo, Santiago, Chile Hospital Padre Hurtado, Santiago, Chile.Show MeSH
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Mentions: Information about cardiac anatomy was available for 366 patients, corresponding to 87% of the total participants and 88.5% of the deceased. Of the 366 patients for whom cardiac anatomy information was available, 233 (63.7%) had a CHD, and 133 (36.3%) had a structurally normal heart and great vessels according to echocardiogram. The presence of cardiac anomalies was significantly associated with mortality; 46 patients with CHD (19.7% of all patients with CHD) and 6 patients without (4.5% of all patients without CHD) died during the study period (OR 5.27; 95% CI 2.06 to 13.99; p<0.0001; table 2). Figure 1 compares Kaplan-Meier survival curves for the patients with and without CHD. The two patients who died after 2 years of age did not have CHD.
Affiliation: Facultad de Medicina, Center for Genetics and Genomics, Clinica Alemana Universidad del Desarrollo, Santiago, Chile Hospital Padre Hurtado, Santiago, Chile.