Abstract 17386: The Survival Impact of Genetic and Chromosomal Aberrations, Non-Cardiac Congenital Defects and Acquired Baseline Morbidity on Neonates with Congenital Heart Disease. How Does the “Perfect” Child Fare?
Background Genetic aberrations, congenital non-cardiac defects and baseline acquired co-morbidities greatly hamper counseling, prognostication and decision-management for neonates with congenital heart defects. We aimed to define the relative risks of these factors.
Methods Over 10 years, we have admitted 1618 neonates <30 days with congenital heart defects. For all 1618, consults throughout follow-up were reviewed including genetic consults (318), FISH results (246), cardiology clinics and in-patient progress. Outcomes were analyzed via parametric modeling with multivariate risk-adjusted regression. All risk factors were tested for reliability through bootstrap bagging (N=1000).
Results Genetic defects were confirmed in 180 (11%). Aberrations included duplications (98; T21=56, T18=21, T10=13), Ch22 defects (47), Turner (4) and specific gene mutations. An additional 180 (11%) had defined clinical syndromes or congenital non-cardiac defects. Acquired non-cardiac co-morbidity at time of presentation was present in 244 (15%) (CNS=11; Resp=69; GIT=55; Renal=30; Sepsis=70), 144 of whom also had genetic defects. “Perfect” patients - lacking genetic, syndromic or acquired co-morbidites - comprised 1118 (69%). Comfort care was offered to 61 (Perfect=11; T18=21; T13=8; T21=1; Acquired=2). The actively managed 1557 showed late survival >90% for the “perfect” patient. Genetic defects/syndromes and acquired co-morbidity strongly affected survival (figure). However in risk-adjusted analyses, chromosomal/gene defects were overshadowed by acquired morbidity or congenital defects affecting specific systems (table; CNS, Respiratory).
Conclusions The “perfect” neonate with congenital hearts disease has an excellent prognosis. However, chromosomal/genetic aberrations do not necessarily imply poor outcome. Instead, acquired non-cardiac morbidity at time of presentation are stronger determinants of outcome.
- © 2011 by American Heart Association, Inc.