#Grand Rounds

22q11.2 Deletion Syndrome: Long-Term Mortality Risks and Outcomes

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BACKGROUND AND PURPOSE:

  • 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome, and affects an estimated 1 in 3000 to 4000 live births
  • Due to major medical advances, individuals with 22q11.2DS may live in to adulthood, but long-term outcomes are limited
  • Van et al. (Genetics in Medicine, 2019) sought to determine the impact of 22q11.2DS on life expectancy 

METHODS:

  • Prospective case-control design
  • Participants
    • Cases: Well-characterized adults (age ≥17 years) with 22q11.2DS
    • Controls: Unaffected siblings and parents of the adults with 22q11.2DS
  • Primary outcomes
    • All-cause mortality and survival

RESULTS:

  • 309 individuals with 22q11.2DS

Predictors of Mortality

  • 22q11.2DS and major congenital heart disease (CHD) were significant independent predictors of mortality for adults with 22q11.2DS vs their siblings
    • 22q11.2DS: hazard ratio [HR] 8.86 (95% CI, 2.87–27.37)
    • CHD: HR 5.03 (95% CI, 2.27–11.17)
  • Intellectual disability and psychotic illness were not predictors of mortality

Deaths

  • 31 deaths | 30 with parental data
  • Median age: 46.4 years (range 18.1–68.6)
  • Lower survival in adults with 22q11.2DS vs unaffected siblings (p < 0.0001)
  • Relationship to parental survival
    • Died while both parents living: 43.3%
    • Died while one parent was still living: 33.3%
    • Outlived both parents: 23.3%
  • Probability of survival with major CHD
    • To age 40: 82%
    • To age 50: 63%
  • Probability of survival without major CHD
    • To age 40: 98%
    • To age 50: 85%

CONCLUSION:

  • Both 22q11.2DS and associated severe forms of CHD both contribute to a lower life expectancy vs control group (family members)
  • A substantial number of individuals with 22q11.2DS outlived both parents  

Learn More – Primary Sources:

All-cause mortality and survival in adults with 22q11.2 deletion syndrome

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Related ObG Topics:

22q11.2 Deletion Syndrome – Key Clinical Highlights
Is Prenatal Microarray Use Justified as a First Tier Test for Fetal Congenital Heart Disease?
The Use of Microarrays in the Prenatal and Postnatal Setting – Current Professional Guidelines
Microarrays and Microdeletions: Key Concepts Summarized

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