Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study.
OBJECTIVE
Chromosome 22q11.2 deletion is the most commonly occurring known microdeletion syndrome. Deaths related to the syndrome have been reported, but the magnitude of death has not been quantified. This study evaluated the deletion's impact on survival and its clinical manifestations in a large cohort of Chilean patients.


METHODS
Demographic and clinical data of individuals with 22q11 deletions diagnosed between 1998 and 2013 were collected from medical records and death certificates. Case fatality rate was calculated and compared with national vital statistics. OR with 95% CI analysis was used to assess the association between clinical manifestations and death.


METHODS
Genetic services in tertiary care centres in Chile, following patients with 22q11.2 deletion.


RESULTS
Fatality rate and associated factors.


RESULTS
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). Factors associated with death included congenital heart disease (OR 5.27; 95% CI 2.06 to 13.99; p<0.0001), hypocalcaemia (OR 4.27; 95% CI 1.67 to 11.15; p<0.002) and airway malacia (OR 13.37; 95% CI 1.19 to 110.51; p<0.002). Patients with deletions and defects such as tetralogy of Fallot with or without pulmonary atraesia, truncus arteriosus or ventricular septal defect, had a 2.6-fold to 4.6-fold higher death rate compared with nationwide reports for the same types of defects.


CONCLUSIONS
In this cohort, we observed a death rate of 14.1%, implying that one in seven patients with 22q11 deletion died during the study period. Significant associations with cardiac defects, hypocalcaemia and airway malacia were observed. Furthermore, the death risk in patients with 22q11 deletion and cardiac defects exceeded the global figures observed in Chile for infants with structurally similar but apparently isolated anomalies. These observations indicate a need to identify patients who may require specific perioperative management to improve survival.
Facultad de Medicina, Center for Genetics and Genomics, Clinica Alemana Universidad del Desarrollo, Santiago, Chile Hospital Padre Hurtado, Santiago, Chile.
Gabriela M
http://orcid.org/0000-0003-0120-5684
GM
Repetto
Facultad de Medicina, Center for Genetics and Genomics, Clinica Alemana Universidad del Desarrollo, Santiago, Chile.
M Luisa
ML
Guzmán
Facultad de Medicina, Centro de Epidemiología y Políticas de Salud, Clinica Alemana Universidad del Desarrollo, Santiago, Chile.
Iris
I
Delgado
Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, Santiago, Chile.
Hugo
H
Loyola
Hospital Dr. Luis Calvo Mackenna, Santiago, Chile Fundación Dr. Alfredo Gantz Mann, Santiago, Chile.
Mirta
M
Palomares
Facultad de Medicina, Center for Genetics and Genomics, Clinica Alemana Universidad del Desarrollo, Santiago, Chile Hospital Padre Hurtado, Santiago, Chile.
Guillermo
G
Lay-Son
Facultad de Medicina, Center for Genetics and Genomics, Clinica Alemana Universidad del Desarrollo, Santiago, Chile.
Cecilia
C
Vial
Facultad de Medicina, Center for Genetics and Genomics, Clinica Alemana Universidad del Desarrollo, Santiago, Chile.
Felipe
F
Benavides
Facultad de Medicina, Center for Genetics and Genomics, Clinica Alemana Universidad del Desarrollo, Santiago, Chile.
Karena
K
Espinoza
Hospital Dr. Roberto del Rio, Santiago, Chile.
Patricia
P
Alvarez
D058165:22q11 Deletion Syndrome / Q000401:mortality*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002677:Chile; D015331:Cohort Studies; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D055815:Young Adult
GENETICS