Genetic abnormalities/syndromes significantly impact perioperative outcomes of conotruncal heart defects

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Conotruncal heart defects: impact of genetic syndromes on immediate operative mortality.

BACKGROUND The surgical outcome of conotruncal heart defects in patients with genetic syndromes has been poorly studied. The aim of this prospective 5-year multicenter study was to elucidate the post-surgical death rate of children with conotruncal heart defects in relation to the presence of associated genetic syndromes. METHODS Two institutions enrolled 350 consecutive inpatients with conot...

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Impact of DEL22q11, trisomy 21, and other genetic syndromes on surgical outcome of conotruncal heart defects.

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. ...

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Genetic background of congenital conotruncal heart defects--a study of 45 families.

INTRODUCTION The latest achievements in molecular diagnosis create new possibilities for evaluation of congenital abnormalities. AIM To present our preliminary experience with genetic diagnosis of congenital combined conotruncal heart defects. METHODS The analysis comprised 35 families with more than one member suffering from conotruncal heart defects (Group I) and 10 families (Group II) ha...

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Genetic variation of infant reduced folate carrier (A80G) and risk of orofacial and conotruncal heart defects.

How folate reduces the risks of congenital anomalies is unknown. The authors focused on a gene involved in folate transport-reduced folate carrier-1 gene (RFC1). Using data from a California case-control study (1987-1989 births), the authors investigated whether the risks of orofacial clefts or conotruncal heart defects were influenced by a polymorphism of infant RFC1 or by an interaction betwe...

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Birth outcomes of cases with conotruncal defects of heart - a population-based case-control study.

OBJECTIVE The aim of this study was to evaluate the birth outcomes of cases with four types of conotruncal defects (CTDs), i.e. common truncus, transposition of great arteries, tetralogy of Fallot and double-outlet right ventricle. METHODS Birth outcomes of 597 live-born cases with CTD and 38,151 population controls without any defects were compared in the population-based large dataset of th...

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ژورنال

عنوان ژورنال: Annals of Pediatric Cardiology

سال: 2020

ISSN: 0974-2069

DOI: 10.4103/apc.apc_51_19