Epidemiology of nonsyndromic conotruncal heart defects in Texas, 1999–2004

Jin, Long; Ramadhani, Tunu A.; Mitchell, Laura E.

doi:10.1002/bdra.20724

Cited by 31 publications

(26 citation statements)

References 42 publications

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“…The most frequent CTD was tetralogy of Fallot (30–40%) and the most common LVOTD was hypoplastic left heart syndrome (44–50%). Consistent with known epidemiological characteristics of LVOTDs and certain CTDs, 42 there was an excess of males. After quality control exclusions, data were available for 4,756,722 SNPs (N=4,483,243 imputed) in the CHOP cohorts and for 5,737,343 SNPs (n=5,112,962 imputed) in the PCGC cohorts.…”

Section: Resultssupporting

confidence: 78%

Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects

Agopian

Goldmuntz

Hákonarson

et al. 2017

Circ Cardiovasc Genet

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Background Maternal and inherited (i.e., case) genetic factors likely contribute to the etiology of congenital heart defects, but it is unclear whether individual common variants confer a large risk. Methods and Results To evaluate the relationship between individual common maternal/inherited genotypes and risk for heart defects, we conducted genome-wide association studies (GWAS) in five cohorts. Three cohorts were recruited at the Children’s Hospital of Philadelphia: 670 conotruncal heart defect (CTD) case-parent trios; 317 left ventricular obstructive tract defect (LVOTD) case-parent trios; and 406 CTD cases and 2,976 pediatric controls. Two cohorts were recruited through the Pediatric Cardiac Genomics Consortium: 355 CTD trios and 192 LVOTD trios. We also conducted meta-analyses using the GWAS results from the CTD cohorts, the LVOTD cohorts and from the combined CTD and LVOTD cohorts. In the individual GWAS, several genome-wide significant associations (p≤5×10−8) were observed. In our meta-analyses, one genome-wide significant association was detected: the case genotype for rs72820264, an intra-genetic SNP associated with LVOTDs (p=2.1×10−8). Conclusions We identified one novel candidate region associated with LVOTDs and report on several additional regions with suggestive evidence for association with CTD and/or LVOTD. These studies were constrained by the relatively small samples sizes and thus have limited power to detect small to moderate associations. Approaches that minimize the multiple testing burden (e.g. gene- or pathway-based) may, therefore, be required to uncover common variants contributing to the risk of these relatively rare conditions.

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Section: Resultssupporting

confidence: 78%

Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects

Agopian

Goldmuntz

Hákonarson

et al. 2017

Circ Cardiovasc Genet

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“…Some studies have also reported an increased risk of septal defects in women who become pregnant at an advanced age [52,53]. Conversely, some studies have not found evidence of an association between maternal age and congenital heart disease [54][55][56].…”

Section: Discussionmentioning

confidence: 99%

Maternal ABVD chemotherapy for Hodgkin lymphoma in a dichorionic diamniotic pregnancy: a case report

Cotteret

Pham

Marçais

et al. 2020

BMC Pregnancy Childbirth

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Background: Hodgkin lymphoma (HL) is the most common hematological malignancy during pregnancy. The firstline treatment for HL in pregnancy is the standard ABVD regimen without any drug and/or dose adjustment. However, data on chemotherapy during twin pregnancies are sparse, and a better understanding of the mechanisms involved in exposure to and the toxic effects of anticancer drugs in the fetuses is needed. Case presentation: A 41-year-old dichorionic diamniotic pregnant patient was given ABVD treatment for HL at a gestational age of 28 weeks and 3 days. The patient received 2 cycles of chemotherapy with a 15-day therapeutic window including an actual 25 mg/m 2 dose of doxorubicin per cycle. Unlike the female twin, the male twin presented four days after birth a left cardiac dysfunction. Doxorubicin cardiotoxicity in the male newborn was also supported by high blood levels of troponin. At one month of age, echocardiography findings were normal. We investigated literature data on physiological aspects of pregnancy that may influence doxorubicin pharmacokinetics, and pharmacodynamic and pharmacokinetic data on the use of doxorubicin in pregnancy. We detailed the role of the transporters in doxorubicin placenta distribution, and tried to understand why only one fetus was affected. Conclusions: Fetal safety depends at least on maternal doxorubicin pharmacokinetics.Because of drug interactions (i.e. drug metabolism and drug transport), care should always be taken to avoid maternal pharmacokinetic variability. The toxic effects were discrepant between the dizygotic twins, suggesting additional fetus-specific pharmacokinetic/pharmacodynamic factors in doxorubicin toxicity.

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“…However, spatial clustering of specific congenital heart defects at a local or state level has also been reported (Wilson et al, 1993;Cronk et al, 2004;Loffredo, 2006, 2003;Batra et al, 2007;Langlois et al, 2009;Long et al, 2010). In the United States, several authors have attempted to describe the geographic distribution of heart defects (Ferencz et al, 1985;Wilson et al, 1993;Batra et al, 2007;Reller et al, 2008;Carmichael et al, 2009;Long et al, 2010). In addition to informing research related to environmental risk factors for CHD, detailed descriptions of the geographic distribution of cases of complex CHD in a region or state can also have an impact on health care delivery and access to care (Moore and Carpenter, 1999;Delamater et al, 2012;Fixler et al, 2012;Husain et al, 2014).…”

Section: Introductionmentioning

confidence: 99%

“…Certain phenotypes are more common in Asia, for example, than in Europe and North America (Shann, 1969;Sadiq et al, 1995;Bernier et al, 2010). However, spatial clustering of specific congenital heart defects at a local or state level has also been reported (Wilson et al, 1993;Cronk et al, 2004;Loffredo, 2006, 2003;Batra et al, 2007;Langlois et al, 2009;Long et al, 2010). In the United States, several authors have attempted to describe the geographic distribution of heart defects (Ferencz et al, 1985;Wilson et al, 1993;Batra et al, 2007;Reller et al, 2008;Carmichael et al, 2009;Long et al, 2010).…”

Section: Introductionmentioning

confidence: 99%

Geographic distribution of live births with tetralogy of Fallot in North Carolina 2003 to 2012

Nelson

Stebbins

Strassle

et al. 2016

Birth Defects Research

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Approximately 50 infants/year were born with TOF in NC. One cluster was identified. Further study is necessary to explore potential explanations for the observed case cluster. As interest in regionalization of congenital heart surgery grows, GIS and spatial analysis can become increasingly useful tools for health care planning. Birth Defects Research (Part A) 106:881-887, 2016. © 2016 Wiley Periodicals, Inc.

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Epidemiology of nonsyndromic conotruncal heart defects in Texas, 1999–2004

Abstract: These findings add to our limited understanding of the epidemiology of CTDs.

Cited by 31 publications

References 42 publications

Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects

Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects

Maternal ABVD chemotherapy for Hodgkin lymphoma in a dichorionic diamniotic pregnancy: a case report

Geographic distribution of live births with tetralogy of Fallot in North Carolina 2003 to 2012

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