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Sudden cardiac death poses a significant risk in patients with surgically repaired tetralogy of Fallot. Despite extensive research, risk stratification practices vary. This study surveyed the Pediatric and Adult Congenital Electrophysiology Society to identify these differences.

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Association of MTHFD1 G1958A (rs2236225) gene polymorphism with the risk of congenital heart disease: a systematic review and meta-analysis.

BMC Med Genomics

January 2025

Department of Cardiovascular Surgery, Gansu Provincial Hospital, No. 204, Donggang West Road, Lanzhou City, Gansu Province, 730000, China.

Background: We did this study to better clarify the correlations of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1)-G1958A (rs2236225) gene polymorphism with the risk of congenital heart diseases (CHD) and its subgroups.

Methods: Relevant articles were searched in PubMed, Web of Science, Cochrane Library, Embase, CNKI, VIP database and Wanfang DATA until October 2023. We will use odds ratios (ORs) and 95% confidence intervals (CIs) to examine the potential associations of MTHFD1- G1958A gene polymorphism with CHD and its subgroups.

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The etiology of congenital heart disease (CHD) is complex, comprising both genetic and environmental factors. Despite documented familial occurrences, the genetic etiology remains largely elusive. Trio exome sequencing identified a heterozygous FLT4 splice site variant in two families with respectively tetralogy of Fallot (TOF), and variable CHD comprising both the TOF spectrum and aortic coarctation.

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Long term outcome after surgical tetralogy of Fallot repair at young age: Longitudinal follow-up up to 50 years after surgery.

Int J Cardiol

January 2025

Department of Cardiology, Cardiovascular Institute, Thorax Center, Erasmus MC, Rotterdam, the Netherlands; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Amsterdam, the Netherlands.

Background: Little is known about the very long-term outcome in Tetralogy of Fallot (ToF) patients.

Objectives: To prospectively evaluate clinical outcome and quality-of-life after surgical repair of ToF.

Methods: Single-centre, longitudinal cohort-study evaluating every decade 144 ToF patients who underwent surgical repair <15 years of age between 1968 and 1980.

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Background: In adolescents and adults with tetralogy of Fallot (TOF), right ventricle (RV) electromechanical dyssynchrony (EMD) due to right bundle branch block (RBBB) is associated with reduced exercise capacity and RV dysfunction. While the development of RBBB following surgical repair of tetralogy of Fallot (rTOF) is a frequent sequela, it is not known whether EMD is present in every patient immediately following rTOF. The specific timing of the onset of RBBB following rTOF therefore provides an opportunity to assess whether acute RBBB is associated with the simultaneous acquisition of EMD.

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