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Prevalence and Case Fatality of Cardiac Phenotypes among Infants with Down Syndrome MCH EPI Conference, Atlanta, 2007

Prevalence and Case Fatality of Cardiac Phenotypes among Infants with Down Syndrome MCH EPI Conference, Atlanta, 2007. M Shin, JE Kucik, T Riehle-Colarusso, A Correa . Down syndrome (DS) Epidemiology. Birth prevalence: 1 in 800 live births Trisomy 21 Survival probability:

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Prevalence and Case Fatality of Cardiac Phenotypes among Infants with Down Syndrome MCH EPI Conference, Atlanta, 2007

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  1. Prevalence and Case Fatality of Cardiac Phenotypes among Infants with Down Syndrome MCH EPI Conference, Atlanta, 2007 M Shin, JE Kucik, T Riehle-Colarusso, A Correa

  2. Down syndrome (DS) Epidemiology • Birth prevalence: 1 in 800 live births • Trisomy 21 • Survival probability: 92.9% survival probability to 1 year, 88.6% survival probability to 10 years (Rasmussen et al, Survival in Infants with Down Syndrome, Metropolitan Atlanta, 1979-1998)

  3. Down syndrome (DS): Overall • Dysmorphic facial • features • Hand and foot • anomalies • Mental retardation • Delayed maturation • and growth • Subfertility/sterility • Hypothyroidism • Hearing Loss • Eye disease • Heart defects

  4. Down Syndrome: Cardiac All types: 40% AV Canal “family” 40% Complete AVC Primum-type ASD VSD, all typesASD,secundum PDA Tetralogy of Fallot

  5. Study Background • Congenital heart defects (CHD) are an important prognostic factor for survival among children with Down syndrome (DS). • Information on the population-based prevalence and case fatality rate (CFR) of cardiac phenotypes among infants with DS is limited.

  6. Study Questions • What is the prevalence of various cardiac phenotypes among infants with DS? • What are the ratios of case fatality rates for the various cardiac phenotypes among infants with DS compared to those without CHD?

  7. Methods • Infants with DS born from 1979 - 2003 were identified from a population-based birth defects registry, Metropolitan Atlanta Congenital Defects Program (MACDP). • Death status among infants with DS through December 31, 2004 was identified from MACDP records, Georgia vital records, and a probability-based linkage with National Death Index (NDI)1 Wong, LY, Paulozzi, L. 2001. Survival of infants with spina bifida: a population study 1979-94. Peditri Perinata Epidemiol, 15:374-378.

  8. Methods • All records with CHD were reviewed and classified according to a clinical nomenclature adopted from the Society of Thoracic Surgeons (STS)1 • CHD in DS infants were then grouped as: • Isolated • Multiple (more than one CHD) • Common Associations: AVSD+ASD, ASD+VSD, AVSD+PDA • Other association 1Riehle-Colarusso et al, (2007) Improving the Quality of Surveillance Data on Congenital Heart Defects in the Metropolitan Atlanta Congenital Defects Program, BDRA

  9. Methods • Prevalence of DS with CHD for each cardiac phenotype was estimated (per 100 live births with DS). • Case Fatality Rates (CFRs) for each cardiac phenotype were compared with the CFR for DS infants without CHD using ratios of CFR. • Mantel-Haenszel method and 95% Confidence Interval (CI).

  10. Results

  11. Results • Total DS cases : 1027 live births • Total DS cases with CHD : 416 cases (40.5%) • Total number of CHD: 526 (case can have more than one CHD)

  12. Proportion of CHD among infants with DS, 1979-2003, metropolitan Atlanta Chi-Square p=0.37

  13. Broad Categories of CHD among infants with DS (n=416)

  14. Broad Categories of CHD among infants with DS (n=416)

  15. RVOTO 1% LVOTO 2% OTHERS 1% CONOT 4% PDA 9% AVSD 37% ASD 20% VSD 26% Cardiac phenotypes among infants with DS and CHD (n=526) PDA=patent ductus arteriosus, CONOT=Conotruncal, LVOTO=left ventricular outflow tract obstruction, RVOTO=Right ventricular outflow tract obstruction

  16. Case Fatality Rates by Cardiac Phenotype among Infants with DS, Isolated Heart Defects

  17. Case Fatality Rates by Cardiac Phenotype among Infants with DS, Multiple defects - Common associations

  18. Case Fatality Rate by Cardiac Phenotype among Infants with DS, Multiple defects - other association

  19. Adjusted Ratios* of Case Fatality Rates *adjusted for birth weight, sex and race/ethnicity

  20. Conclusion • 40.5% of infants with DS were found to have CHD; The most frequent CHD was AVSD (33.4%). • The presence of CHD is associated with a two-fold higher risk of dying within one year compared to those without CHD. • Infants with DS and either an isolated CHD or other associated multiple CHD have a higher risk of mortality compared to those without CHD.

  21. Conclusion • Higher mortality predominantly due to presence of AVSD, either in isolation or combined with other heart defects. • Classification of specific cardiac phenotype among DS with CHD can contribute to the understanding of factors associated with higher mortality.

  22. Next Steps • Further Analysis on the severity of the heart defects (AVSD) • Further analysis of children with AVSD without Down syndrome

  23. Thank You Picture from http://www.nads.org/

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