Congenital heart disease in a population of dizygotic twins: an echocardiographic study

Caputo, Salvatore; Russo, Maria Giovanna; Capozzi, Giovanbattista; Morelli, Carmela; Argiento, Paola; Salvo, Giovanni Di; Sarubbi, Berardo; Santoro, Giuseppe; Pacileo, Giuseppe; Calabrò, Raffaele

doi:10.1016/j.ijcard.2004.05.018

Cited by 14 publications

(11 citation statements)

References 29 publications

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“…A small number of studies directly compared the recurrence risk of twin pairs with that of first-degree relatives. Caputo et al 2 compared recurrence risk in DZ pairs and sib-pairs and concluded that the higher recurrence and concordance of congenital heart disease in DZ twins might depend on a poorly understood environmental risk during pregnancy. However, Øyen et al 15 found that intrauterine conditions had no effect, after comparing the RRRs of opposite-sex twin pairs and first-degree relatives.…”

Section: Discussionmentioning

confidence: 99%

“…The first step in genetic epidemiologic analyses is to clarify familial aggregation of targeted traits. To identify familial aggregation, it is important to compare the concordance rate of birth defects in DZ twin pairs (ie, siblings that develop together in the same womb) 2 , 3 with the prevalence of birth defects in the general population. The present study used nationwide data on ART to calculate the concordance rate of twin pairs and examine familial aggregation of birth defects.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Concordance Rates of Birth Defects After Assisted Reproductive Technology Among 17 258 Japanese Twin Pregnancies: A Nationwide Survey, 2004^|^ndash;2009

Ooki

2013

Journal of Epidemiology

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BackgroundMost twins after assisted reproductive technology (ART) are dizygotic. Analysis of dizygotic twin pairs is useful in assessing familial aggregation in the development of birth defects.MethodsUsing nationwide post-ART data from the Japan Society of Obstetrics and Gynecology, recurrence risk ratios (RRRs)—defined as probandwise concordance rates of birth defects in twins divided by the prevalence of birth defects in the general population—were calculated as indicators of familial aggregation. Birth defects were then reclassified according to the ICD-10 categories corresponding to codes Q00–Q99. From 2004 to 2009, there were 17 258 twin pregnancies.ResultsAt least 1 birth defect was noted in 236 twin pairs: 11 concordant and 225 discordant pairs. Regarding major organ systems, high probandwise concordance rates were observed for congenital malformations of eye, ear, face, and neck (11.8%), cleft lip and cleft palate (10.5%), congenital malformations of the nervous system (9.8%), and other congenital malformations of the digestive system (9.5%). High RRRs were observed for congenital malformations of eye, ear, face, and neck (RRR = 233), specifically other congenital malformations of the ear (RRR = 449); congenital malformations of the great arteries (RRR = 235), specifically those of the patent ductus arteriosus (RRR = 530); and for cleft lip and cleft palate (RRR = 208), specifically cleft palate with cleft lip (RRR = 609). The probandwise concordance rate of any birth defect (8.9%) was nearly identical to the approximated recurrence risk of sib-pairs (8.8%), which assumed multifactorial inheritance.ConclusionsThe present findings suggest that familial aggregation is a factor in some birth defects.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Concordance Rates of Birth Defects After Assisted Reproductive Technology Among 17 258 Japanese Twin Pregnancies: A Nationwide Survey, 2004^|^ndash;2009

Ooki

2013

Journal of Epidemiology

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“…As patients with CHD have an increased risk of relatives with CHD [5,6] and as dizygotic twins have a risk of recurrence and concordance of CHD higher than that of nontwin siblings [7], the familial recurrence of CHD should be an indication for a cardiac evaluation. Siblings (especially twins) of patients with CHD, although asymptomatic and without significant murmur, should be scheduled for a cardiac evaluation.…”

Section: Discussionmentioning

confidence: 99%

Echocardiographic diagnosis of coronary artery fistula in both dizygotic twin brothers

Caputo

Sorice²,

Sansone³

et al. 2017

Journal of Cardiovascular Medicine

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A congenital coronary artery fistula (CAF) is a rare form of heart disease in which a coronary artery and a cardiac chamber or another vascular structure communicate. CAF could worsen ventricular perfusion and function, favoring ventricular ischemia and arrhythmias. To our knowledge, this is the first report of CAF, draining in the pulmonary artery, in two asymptomatic dizygotic twin brothers, diagnosed by echocardiography. Dizygotic twins are siblings with different genes exposed to the same environmental experience during the pregnancy. The occurrence of CAF (with similar instrumental findings) in both twin brothers could depend on a poorly identified environmental factor during pregnancy.

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“…A 2.3-fold higher prevalence of major malformation (9.3%) was found among IVF infants when compared to control infants. Congenital heart disease is more common among twins than among singletons (7,8). Congenital heart disease is more common among twins than among singletons (7,8).…”

Section: Risks Of Multiple Pregnancies For the Childrenmentioning

confidence: 99%

Medical considerations of single embryo transfer

Hovatta¹

2012

Textbook of Assisted Reproductive Techniques, Volume Two: Clinical Perspectives

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Congenital heart disease in a population of dizygotic twins: an echocardiographic study

Cited by 14 publications

References 29 publications

Concordance Rates of Birth Defects After Assisted Reproductive Technology Among 17 258 Japanese Twin Pregnancies: A Nationwide Survey, 2004^|^ndash;2009

Concordance Rates of Birth Defects After Assisted Reproductive Technology Among 17 258 Japanese Twin Pregnancies: A Nationwide Survey, 2004^|^ndash;2009

Echocardiographic diagnosis of coronary artery fistula in both dizygotic twin brothers

Medical considerations of single embryo transfer

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