Document Detail


Impact of DEL22q11, trisomy 21, and other genetic syndromes on surgical outcome of conotruncal heart defects.
MedLine Citation:
PMID:  19698836     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVE: Genetic syndromes occur in more than 20% of patients with conotruncal heart defects. We investigated the impact of genetic syndromes on the surgical outcome of conotruncal anomalies in infancy. METHODS: This retrospective study reviews the outcome of 787 patients (median age 6.3 months) who underwent primary (598) or staged (189) repair of a conotruncal defect between 1992 and 2007. RESULTS: Proven genetic syndrome was diagnosed in 211 patients (26.8%), including del22q11 (91 patients), trisomy 21 (29 patients), VACTERL (18 patients), and other syndromes (73 patients). Primary repair was accomplished in 80.9% of nonsyndromic patients and 74.4% of syndromic patients (P = .18) Fifteen-year cumulative survival was 84.3% +/- 2.3% in nonsyndromic patients and 73.2% +/- 4.2% in syndromic patients (P < .001). Primary and staged repair allowed similar 15-year survival (81.4% +/- 4.5% vs 79.1% +/- 5.1%, P = .8). Freedom from noncardiac cause of death was significantly lower in syndromic patients (P = .0056). Fifteen-year Kaplan-Meier survival was 87.6% +/- 3.9% for del22q11, 95.8% +/- 4.1% for trisomy 21, 56.8% +/- 6.3% for VACTERL, and 62.3% +/- 12.7% for patients with other syndromes (P = .022). Total intensive care unit stay was 10.8 +/- 4.9 days in syndromic patients and 5.1 +/- 1.7 days in nonsyndromic patients (P < .001). Freedom from reintervention 15 years after repair was 79.6% +/- 4.9% in nonsyndromic patients and 62.4% +/- 7.4% in syndromic patients (P = .007). CONCLUSION: Del22q11 and trisomy 21 do not represent risk factors for mortality after repair of conotruncal anomalies, whereas other syndromes adversely affect the surgical outcome for predominant noncardiac attrition. Higher morbidity and lower mid-term freedom from reintervention can be predicted in syndromic patients.
Authors:
Guido Michielon; Bruno Marino; Gianluca Oricchio; Maria Cristina Digilio; Fiore Iorio; Sergio Filippelli; Silvia Placidi; Roberto M Di Donato
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Publication Detail:
Type:  Journal Article     Date:  2009-05-23
Journal Detail:
Title:  The Journal of thoracic and cardiovascular surgery     Volume:  138     ISSN:  1097-685X     ISO Abbreviation:  J. Thorac. Cardiovasc. Surg.     Publication Date:  2009 Sep 
Date Detail:
Created Date:  2009-08-24     Completed Date:  2009-09-18     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0376343     Medline TA:  J Thorac Cardiovasc Surg     Country:  United States    
Other Details:
Languages:  eng     Pagination:  565-570.e2     Citation Subset:  AIM; IM    
Affiliation:
Dipartimento Medico-Chirurgico di Cardiochirurgia e Cardiologia Pediatrica, Ospedale Pediatrico Bambino Gesù, Rome, Italy. guido.michielon@tin.it
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics*,  surgery*
Cardiovascular Surgical Procedures / mortality*
Chromosome Deletion*
Chromosomes, Human, Pair 22*
Down Syndrome / complications*
Female
Follow-Up Studies
Heart Defects, Congenital / genetics,  surgery*
Humans
Infant
Infant, Newborn
Male
Reoperation
Retrospective Studies
Risk Factors
Survival Rate
Syndrome
Treatment Outcome

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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