Rare occurrence of Tetralogy of Fallot in dizygotic twins conceived via in vitro fertilisation

Greenberg, Jason W.; Reddy, Chetana; Huddleston, Charles B.

doi:10.1017/s1047951119002439

Cited by 2 publications

(1 citation statement)

References 10 publications

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“…3 Besides this series, a handful of DiDi twin pairs with complex CHD have been reported. 4,5,6,7,8,9 We therefore carried out his multi-institutional observational study (case series) to characterize DiDi twin pairs with complex CHD. The series was supplemented by a comprehensive review of literature.…”

Section: Introductionmentioning

confidence: 99%

Dichorionic Diamniotic Twin Pairs with Complex Congenital Heart Disease

Kohli,

Perrotta,

Aljemmali

et al. 2023

Pediatr Cardiol

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Complex congenital heart disease (CHD) in each of dichorionic diamniotic (DiDi) twin pairs is extremely rare and has not been well characterized. Four DiDi twin pairs were included in this multi-institutional case series. The congenital cardiac abnormalities noted included tetralogy of Fallot (ToF) with pulmonary atresia and collaterals (n = 1), ToF with absent pulmonary valve (n = 1), ToF (n = 2), discontinuous right pulmonary artery (RPA) (n = 1), tricuspid atresia (TA) with normally related great arteries and pulmonary valve stenosis or atresia (n = 2) and coarctation of aorta (CoA) with bicuspid aortic valve (BAV) and borderline left-sided structures (n = 1). Genetic testing was obtained on seven of the eight twins but did not reveal any causal abnormality. A comprehensive review of literature yielded another 8 DiDi twin pairs with complex CHD. The CHD noted in these twin pairs included ToF (n = 2), CoA (n = 4), corrected transposition of great arteries (ccTGA) (n = 2), truncus arteriosus (n = 2), complete common atrioventricular canal (CCAVC) (n = 2), hypoplastic left heart syndrome (HLHS) (n = 2), Shone's complex (n = 1) and hypoplastic right heart syndrome (HRHS) (n = 1). Limited genetic testing was obtained on 4 of these twins and revealed trisomy 21 in a twin pair. Conotruncal abnormalities (42%), CoA (21%), and abnormalities of the right ventricle, the right ventricular out ow tract and pulmonary arteries (17%) are more prevalent in DiDi twins with complex CHD. Clustering of these abnormalities suggests a possible genetic basis; however, genetic testing was obtained on eleven of the twins, and except for trisomy 21 in a twin pair both of whom had CCAVC, did not reveal any causal abnormality. A major direct genetic contribution is therefore unlikely and like other CHD, the underlying etiopathological basis is likely multifactorial.

show abstract

Section: Introductionmentioning

confidence: 99%

Dichorionic Diamniotic Twin Pairs with Complex Congenital Heart Disease

Kohli,

Perrotta,

Aljemmali

et al. 2023

Pediatr Cardiol

View full text Add to dashboard Cite

show abstract

Dichorionic Diamniotic Twin Pairs with Complex Congenital Heart Disease

Kohli

Perrotta

Aljemmali

et al. 2022

Preprint

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Complex congenital heart disease (CHD) in each of dichorionic diamniotic (DiDi) twin pairs is extremely rare and has not been well characterized. Four DiDi twin pairs were included in this multi-institutional case series. The congenital cardiac abnormalities noted included tetralogy of Fallot (ToF) with pulmonary atresia and collaterals (n = 1), ToF with absent pulmonary valve (n = 1), ToF (n = 2), discontinuous right pulmonary artery (RPA) (n = 1), tricuspid atresia (TA) with normally related great arteries and pulmonary valve stenosis or atresia (n = 2) and coarctation of aorta (CoA) with bicuspid aortic valve (BAV) and borderline left-sided structures (n = 1). Genetic testing was obtained on seven of the eight twins but did not reveal any causal abnormality. A comprehensive review of literature yielded another 8 DiDi twin pairs with complex CHD. The CHD noted in these twin pairs included ToF (n = 2), CoA (n = 4), corrected transposition of great arteries (ccTGA) (n = 2), truncus arteriosus (n = 2), complete common atrioventricular canal (CCAVC) (n = 2), hypoplastic left heart syndrome (HLHS) (n = 2), Shone’s complex (n = 1) and hypoplastic right heart syndrome (HRHS) (n = 1). Limited genetic testing was obtained on 4 of these twins and revealed trisomy 21 in a twin pair. Conotruncal abnormalities (42%), CoA (21%), and abnormalities of the right ventricle, the right ventricular outflow tract and pulmonary arteries (17%) are more prevalent in DiDi twins with complex CHD. Clustering of these abnormalities suggests a possible genetic basis; however, genetic testing was obtained on eleven of the twins, and except for trisomy 21 in a twin pair both of whom had CCAVC, did not reveal any causal abnormality. A major direct genetic contribution is therefore unlikely and like other CHD, the underlying etiopathological basis is likely multifactorial.

show abstract

Rare occurrence of Tetralogy of Fallot in dizygotic twins conceived via in vitro fertilisation

Cited by 2 publications

References 10 publications

Dichorionic Diamniotic Twin Pairs with Complex Congenital Heart Disease

Dichorionic Diamniotic Twin Pairs with Complex Congenital Heart Disease

Dichorionic Diamniotic Twin Pairs with Complex Congenital Heart Disease

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