Recurrence of Congenital Heart Defects in Families

Øyen, Nina; Poulsen, Gry; Boyd, Heather A.; Wohlfahrt, Jan; Jensen, Peter K.A.; Melbye, Mads

doi:10.1161/circulationaha.109.857987

Cited by 327 publications

(285 citation statements)

References 45 publications

Supporting

Mentioning

262

Contrasting

Unclassified

Order By: Relevance

“…6 The CHD are considered as multifactorial defects, majority do not segregate in mendalian ratio, although familial aggregation present. 7 Most of the known cases of CHD are sporadic genetic variations, point mutations, duplication or deletion. 8 A large number of chromosomal abnormalities such as trisomy 21, 18,and 13 are associated with CHD in 5-8% cases.…”

Section: Discussionmentioning

confidence: 99%

Pattern of Congenital Heart Diseases and Treatment Options in a Bangladeshi Centre: Analysis of 6914 cases from Non-invasive Cardiac Laboratory

Fatema

2017

Cardiovasc. j.

View full text Add to dashboard Cite

Background: Echocardiography is the most sensitive tool to diagnose congenital heart diseases efficiently. It can be repeated as many times as required to see the progress, outcome of treatment and complications. Echocardiography laboratory can give a scenario of pattern of congenital heart diseases existing in Bangladesh as well as natural history of the cases and treatment options offered.Methods: It is a retrospective review of database of echocardiography patient from pediatric noninvasive laboratory of a cardiac hospital from January 2012 to December 2012.Results: Out of 6914 cases 55.73% were male and 44.27% female. Neonates include 8.48%, 36.62% Down Syndrome were infant, 34.02% were under 5 years, 17.97% were children and adolescents and 2.96% were adults. Normal Echocardiography finding was found in 17.28% cases. Ventricular septal defect (VSD) was found in 18.60% cases, Atrial septal defects (ASD) in 15.41% cases, Patent ductus arteriosus (PDA) in 8.59% cases, Atrioventricular septal defect (AVSD) in 1.97% cases, Tetralogy of Fallot (TOF) in 4.79% cases and Transposition of great arteries (TGA) in 2.26% cases. Down syndrome was the commonest chromosomal abnormality seen in 2.4% cases.Conclusion: This study shows that VSD is the commonest congenital heart lesions in our country followed by ASD. Down syndrome was the commonest chromosomal abnormality seen in 2.4% cases.Cardiovasc. j. 2017; 9(2): 97-105

show abstract

Section: Discussionmentioning

confidence: 99%

Pattern of Congenital Heart Diseases and Treatment Options in a Bangladeshi Centre: Analysis of 6914 cases from Non-invasive Cardiac Laboratory

Fatema

2017

Cardiovasc. j.

View full text Add to dashboard Cite

show abstract

“…3,4 According to epidemiological study, the impact of genetic factors seems to vary depending on CHD type with a much higher recurrence risk in CHD associated with heterotaxy than in the most common CHD such as atrial and ventricular septal defects (ASD and VSD, respectively). 5 Substituting a mean with an individual recurrence risk would be beneficial, because only mutation carriers are at high risk of recurrence, whereas noncarriers have a risk similar to the general population. Therefore, it is crucial to determine these genetic factors in order to improve genetic counseling by reassuring those who have no particular risk of recurrence and to give a much better recurrence risk estimation for mutation carriers.…”

Section: Introductionmentioning

confidence: 99%

A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field

Malti¹,

Liu²,

Doray³

et al. 2015

Eur J Hum Genet

View full text Add to dashboard Cite

The etiology of congenital heart defect (CHD) combines environmental and genetic factors. So far, there were studies reporting on the screening of a single gene on unselected CHD or on familial cases selected for specific CHD types. Our goal was to systematically screen a proband of familial cases of CHD on a set of genetic tests to evaluate the prevalence of disease-causing variant identification. A systematic screening of GATA4, NKX2-5, ZIC3 and Multiplex ligation-dependent probe amplification (MLPA) P311 Kit was setup on the proband of 154 families with at least two cases of non-syndromic CHD. Additionally, ELN screening was performed on families with supravalvular arterial stenosis. Twenty-two variants were found, but segregation analysis confirmed unambiguously the causality of 16 variants: GATA4 (1 × ), NKX2-5 (6 × ), ZIC3 (3 × ), MLPA (2 × ) and ELN (4 × ). Therefore, this approach was able to identify the causal variant in 10.4% of familial CHD cases. This study demonstrated the existence of a de novo variant even in familial CHD cases and the impact of CHD variants on adult cardiac condition even in the absence of CHD. This study showed that the systematic screening of genetic factors is useful in familial CHD cases with up to 10.4% elucidated cases. When successful, it drastically improved genetic counseling by discovering unaffected variant carriers who are at risk of transmitting their variant and are also exposed to develop cardiac complications during adulthood thus prompting long-term cardiac follow-up. This study provides an important baseline at dawning of the next-generation sequencing era.

show abstract

“…с ВПС) было выявлено, что в сред-нем только у 2,2% детей с ВПС имелась отягощенность по ВПС у родственников первой линии родства. Однако наблюдалась выраженная вариабельность отношения рисков для разных ВПС: так, например, отягощенная наследственность по ВПС увеличивала риск формирова-ния ДМПП более чем втрое, обструкции выходного отдела правого желудочка -почти в 50 раз, а риск гетеротак-сии -почти в 80 раз [63].…”

Section: вопросы современной педиатрииunclassified

Congenital Heart Diseases in Children: Incidence, Risk Factors, Mortality

Саперова¹,

Вахлова²

2017

Vopr. sovr. pediatr.

View full text Add to dashboard Cite

Recurrence of Congenital Heart Defects in Families

Cited by 327 publications

References 45 publications

Pattern of Congenital Heart Diseases and Treatment Options in a Bangladeshi Centre: Analysis of 6914 cases from Non-invasive Cardiac Laboratory

Pattern of Congenital Heart Diseases and Treatment Options in a Bangladeshi Centre: Analysis of 6914 cases from Non-invasive Cardiac Laboratory

A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field

Congenital Heart Diseases in Children: Incidence, Risk Factors, Mortality

Contact Info

Product

Resources

About