Dichorionic Diamniotic Twin Pairs with Complex Congenital Heart Disease

Utkarsh Kohli; Melissa L Perrotta; Saif Aljemmali; Cyndi Sosnowski; Yvonne M Cardenas; Kavita Sharma

doi:10.1007/s00246-023-03339-y

Dichorionic Diamniotic Twin Pairs with Complex Congenital Heart Disease

Pediatr Cardiol. 2023 Nov 15. doi: 10.1007/s00246-023-03339-y. Online ahead of print.

Authors

Utkarsh Kohli¹, Melissa L Perrotta², Saif Aljemmali³, Cyndi Sosnowski³, Yvonne M Cardenas⁴, Kavita Sharma⁵

Affiliations

¹ Department of Pediatrics, Division of Pediatric Cardiology, West Virginia University Children's Hospital and West Virginia University School of Medicine, 64 Medical Center Drive, Robert C. Byrd Health Sciences Center, PO Box 9214, Morgantown, WV, 26506, USA. uk10004@hsc.wvu.edu.
² Department of Pediatrics, Division of Pediatric Cardiology, University of Louisville School of Medicine and Norton Children's Hospital, Louisville, KY, 40202, USA.
³ Department of Pediatrics, Section of Pediatric Cardiology, Rush University Medical Center, Chicago, IL, 60612, USA.
⁴ Department of Pediatrics, Division of Pediatric Cardiology, West Virginia University Children's Hospital and West Virginia University School of Medicine, 64 Medical Center Drive, Robert C. Byrd Health Sciences Center, PO Box 9214, Morgantown, WV, 26506, USA.
⁵ Department of Pediatrics, Children's Medical Center Dallas, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA.

PMID: 37964109
DOI: 10.1007/s00246-023-03339-y

Abstract

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.

Keywords: Coarctation of aorta; Congenital heart disease; Dichorionic diamniotic twins; Discontinuous right pulmonary artery; Tetralogy of Fallot; Tricuspid atresia.