ArticleAmerican heart journal2011
Patterns of cardiac and extracardiac anomalies in adults with tetralogy of fallot.
Article in American heart journal, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 citations in OpenAlex.
- Adult ADHD and Comorbid Somatic Disease: A Systematic Literature Review.Journal of attention disorders · 2018Pooled it
- An interactive videogame designed to improve respiratory navigator efficiency in children undergoing cardiovascular magnetic resonance.Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance · 2016Trial
- Review
- Clinically Relevant Genetic Considerations for Patients With Tetralogy of Fallot.CJC pediatric and congenital heart disease · 2023Review
- Noncardiac anomalies in children with congenital heart disease.Frontiers in cardiovascular medicine · 2023Article
- Investigation of echocardiographic characteristics and predictors for persistent defects of patent foramen ovale or patent ductus arteriosus in Chinese newborns.Biomedical journal · 2021Article
- Article
- The role of 22q11.2 deletion syndrome in the relationship between congenital heart disease and scoliosis.The spine journal : official journal of the North American Spine Society · 2020Article
- Article
- 22q11.2 Deletion syndrome is associated with perioperative outcome in tetralogy of Fallot.The Journal of thoracic and cardiovascular surgery · 2013Article
- Role of connexins in human congenital heart disease: the chicken and egg problem.Frontiers in pharmacology · 2013Article
- Tetralogy of fallot is an uncommon manifestation of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome.The Journal of pediatrics · 2012Article
- Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways.PLoS genetics · 2012Article
- Tbx1: identification of a 22q11.2 gene as a risk factor for autism spectrum disorder in a mouse model.Human molecular genetics · 2011Article
- Article
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundtetralogy of Fallot (TOF) is a complex congenital heart disease with clinical and genetic heterogeneity. Of the few known causes, 22q11.2 deletion syndrome (22q11DS) is the most common. We sought to define other clinical subgroups by focusing on cardiac and extracardiac features.
methodswe prospectively screened a cohort of adults with TOF using an established protocol by which subjects were categorized as "syndromic" if they had at least 2 of 3 features: dysmorphic facies, learning difficulties, or voice abnormalities. We then compared the prevalence of cardiac and extracardiac features between subjects in the syndromic group (n = 56) and 112 age- and gender-matched subjects who did not meet our syndromic criteria.
resultsthe syndromic group was more likely than the nonsyndromic group to have pulmonary atresia and/or major aortopulmonary collateral arteries (25% vs 13%, P = .04). There was a trend toward a higher prevalence of one or more major congenital extracardiac anomalies, primarily involving the musculoskeletal and genitourinary systems (25% vs 13%, P = .06). Later-onset conditions, including neuropsychiatric disorders (32% vs 17%, P = .03), thyroid disorders (20% vs 4%, P = .001), and hearing deficits (20% vs 0, P < .001), were more common in the syndromic group. The syndromic group tested (n = 50) had neither 22q11.2 deletions nor karyotypic anomalies.
conclusionsimilar to 22q11DS, adults with TOF meeting screening criteria for a possible genetic syndrome are enriched for more severe cardiac disease and late-onset extracardiac features. Increased awareness of this subgroup with a multisystem condition may be helpful for identifying individuals for referral to medical genetics and optimizing management.
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