ArticleJournal of medical genetics1997
Recurrence risk figures for isolated tetralogy of Fallot after screening for 22q11 microdeletion.
Article in Journal of medical genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 51 citations in OpenAlex.
- Tissue engineering: Relevance to neonatal congenital heart disease.Seminars in fetal & neonatal medicine · 2022Review
- The evolution of fetal echocardiography before and during COVID-19.Progress in pediatric cardiology · 2020Review
- Recurrent Congenital Heart Diseases Among Neonates Born to Mothers with Congenital Heart Diseases.Pediatric cardiology · 2019Article
- Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Genetic testing in congenital heart disease: A clinical approach.World journal of cardiology · 2016Review
- Association of TBX20 gene polymorphism with congenital heart disease in Han Chinese neonates.Pediatric cardiology · 2015Article
- Risk of congenital heart disease in relatives of probands with conotruncal cardiac defects: an evaluation of 1,620 families.American journal of medical genetics. Part A · 2014Article
- Complex congenital heart disease in unaffected relatives of adults with 22q11.2 deletion syndrome.The American journal of cardiology · 2011Article
- Increased prevalence of cardiovascular defects among 56,709 California twin pairs.American journal of medical genetics. Part A · 2009Article
- Familial recurrence of congenital heart disease: an overview and review of the literature.European journal of pediatrics · 2007Review
- Conotruncal heart defect/microphthalmia syndrome: delineation of an autosomal recessive syndrome.Journal of medical genetics · 1997Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Isolated tetralogy of Fallot (TF) has a multifactorial mode of inheritance in most cases, and recurrence risk rates of 2.5-3% have been attributed to first degree relatives of an affected child. In a subgroup of patients with a strong family history, the transmission of a monogenic trait has been suspected. Microdeletion 22q11 (del(22q11)) can cause TF in the setting of DiGeorge and velocardiofacial syndromes, and has also been related to familial conotruncal cardiac defects. Empirical risk figures in families after exclusion of del(22q11) have never been calculated. We have investigated the overall occurrence of congenital heart defect (CHD) in relatives of 102 patients with isolated non-syndromic TF previously screened for del(22q11). Our results show that the frequency of CHD is 3% in sibs, 0.5% in parents, 0.3% in grandparents, 0.2% in uncles or aunts, and 0.6% in first cousins. The recurrence risk rate for sibs in our series is the same as that previously estimated, indicating that after exclusion of patients with del(22q11) genetic counselling to patients with isolated TF should not be modified. A high concordance rate among our affected sibs has been documented. Gene(s) different from those located on chromosome 22q11 must be involved in causing familial aggregation of non-syndromic TF in these cases.
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