Genetic study of congenital heart defects in Northern Ireland (1974-1978).

Hanna, Elie; Nevin, N. C.; Nelson, Judith Gick

doi:10.1136/jmg.31.11.858

Cited by 28 publications

(14 citation statements)

References 21 publications

(5 reference statements)

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“…Among patients with syndromes there was a 10-year-old girl with Wolfram syndrome who had pulmonary stenosis. To our knowledge, the association of Wolfram syndrome 656 with CHD had been reported in only 1 previous study.23 The 21.4% prevalence of extracardiac malformations in our data is comparable with that found in most other studies.20-22 The most frequent extracardiac anomaly in our patients was in the skeletal system followed by gastrointestinal and genitourinary systems. In the literature the most common malformations associated with CHD are those of the musculoskeletal system (8.8%).…”

Section: Resultssupporting

confidence: 94%

Risk Factors in Congenital Heart Disease

Roodpeyma¹,

Kamali²,

Afshar³

et al. 2002

Clin Pediatr (Phila)

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A case-control study was conducted to investigate the risk factors of congenital heart disease (CHD). The cases were 346 children with CHD who were admitted to a university hospital in Tehran from 1995 to 2000 and controls (n=346) were randomly selected from children without CHD who were admitted during the same period. The medical records of both cases and controls were reviewed. Ten risk factors were studied and found to be more prevalent among cases (47%) than controls (35%, p < 0.005). Extracardiac malformations (OR, 31.1; CI95, 15.9-60.9; p < 0.001) and chromosomal abnormalities (OR, 34.05; CI95, 23.3-49.8; p < 0.001) were significant risk factors for CHD. Dysmorphic syndromes (p < 0.05) and CHD in siblings (p < 0.001) were also significant risk factors. Maternal illness and drug use in the first trimester of pregnancy, maternal history of previous abortions and stillbirths, parental consanguinity, and parental cardiac lesions were not significant risk factors for CHD in offspring. Results suggest that genetic factors more than environmental or reproductive factors can increase the occurrence of cardiac defects.

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Section: Resultssupporting

confidence: 94%

Risk Factors in Congenital Heart Disease

Roodpeyma¹,

Kamali²,

Afshar³

et al. 2002

Clin Pediatr (Phila)

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“…Significant differences were observed in relation to the work of Stoll et al 12 , Hanna et al 14 , Goodship et al 15 , Grech and Gatt 3 , Meberg et al 16 , Roodpeyma et al 6 , Bosi et al 17 , Calzolari et al 18 Dadvand et al 21 and Hartman et al 22 , who found rates of 3-12.1% (p < 0.05). These were characterized by having distinct samples, both regarding the number and the clinical characteristics of their patients.…”

Section: Discussionmentioning

confidence: 72%

Chromosomal Abnormalities in Patients with Congenital Heart Disease

Trevisan¹,

Zen²,

Rosa³

et al. 2013

Arquivos Brasileiros De Cardiologia

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BackgroundChromosomal abnormalities (CAs) are an important cause of congenital heart disease (CHD).ObjectiveDetermine the frequency, types and clinical characteristics of CAs identified in a sample of prospective and consecutive patients with CHD.MethodOur sample consisted of patients with CHD evaluated during their first hospitalization in a cardiac intensive care unit of a pediatric referral hospital in Southern Brazil. All patients underwent clinical and cytogenetic assessment through high-resolution karyotype. CHDs were classified according to Botto et al. Chi-square, Fisher exact test and odds ratio were used in the statistical analysis (p < 0.05).ResultsOur sample consisted of 298 patients, 53.4% males, with age ranging from 1 day to 14 years. CAs were observed in 50 patients (16.8%), and 49 of them were syndromic. As for the CAs, 44 (88%) were numeric (40 patients with +21, 2 with +18, 1 with triple X and one with 45,X) and 6 (12%) structural [2 patients with der(14,21), +21, 1 with i(21q), 1 with dup(17p), 1 with del(6p) and 1 with add(18p)]. The group of CHDs more often associated with CAs was atrioventricular septal defect.ConclusionsCAs detected through karyotyping are frequent in patients with CHD. Thus, professionals, especially those working in Pediatric Cardiology Services, must be aware of the implications that performing the karyotype can bring to the diagnosis, treatment and prognosis and for genetic counseling of patients and families.

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“…The lesion of CHD presents transposition of the great arteries, tetralogy of Fallot, hypoplastic right heart, hypoplastic left heart, single ventricle, double outlet right ventricle, truncus arteriosus, total anomalous pulmonary venous connection, atrioventricular septal defect, ventricular septal defect, patent ductus arteriosus, aortic stenosis, and so on (Hoffman and Kaplan, 2002). It is well recognized that mutations in some genes lead to CHD (Hanna et al, 1994;Hoffman and Kaplan, 2002). For instance, Tbx1 mutation causes severe outflow tract (OFT) defects.…”

Section: Introductionmentioning

confidence: 98%