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• W2043670228 abstract "ObjectiveGenetic 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.MethodsThis 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.ResultsProven 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).ConclusionDel22q11 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. 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. 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. 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). 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." @default.
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• W2043670228 date "2009-09-01" @default.
• W2043670228 modified "2023-10-07" @default.
• W2043670228 title "Impact of DEL22q11, trisomy 21, and other genetic syndromes on surgical outcome of conotruncal heart defects" @default.
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• W2043670228 doi "https://doi.org/10.1016/j.jtcvs.2009.03.009" @default.
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