Anomalous Origin of the Right Coronary Artery From Pulmonary Trunk in a Hypoplastic Left Heart Syndrome With 15q11.2 BP1-BP2 Microdeletion: A Novel Association
Restricted accessCase reportFirst published online March, 2025
Anomalous Origin of the Right Coronary Artery From Pulmonary Trunk in a Hypoplastic Left Heart Syndrome With 15q11.2 BP1-BP2 Microdeletion: A Novel Association
A 15q11.2 (BP1-BP2) deletion was detected in a 4-day-old boy who had hypoplastic left heart syndrome (HLHS) diagnosed prenatally by echocardiography. Postmortem examination revealed an anomalous origin of the right coronary artery from the pulmonary trunk (ARCAPT). This genetic defect is known to cause syndromic presentations and believed to participate in cardiovascular defects but to the best of our knowledge no HLHS with ARCAPT was reported to have this genetic defect before. This case presents a novel association and suggests involvement of the 15q11.2 deletion in a syndromic presentation. Further studies are necessary to explore this genetic link and its clinical implications.
CleuziouJHaasFSchreiberCMössingerHJLangeR.Hypoplastic left heart syndrome with anomalous origin of the right coronary artery. Ann Thorac Surg. 2006;81(1):341-343.
2.
WilliamsSGNakevAGuoH, et al. Association of congenital cardiovascular malformation and neuropsychiatric phenotypes with 15q11. 2 (BP1–BP2) deletion in the UK Biobank. Eur J Hum Genet. 2020;28(9):1265-1273.
3.
FeinsteinJABensonDWDubinAM, et al. Hypoplastic left heart syndrome: current considerations and expectations. J Am Coll Cardiol. 2012;59(1S):S1-S42.
4.
TuriyYDouglasWBalaguruD.Anomalous origin of coronary artery from main pulmonary artery in hypoplastic left heart syndrome. Ann Thorac Surg. 2015;100(6):2346-2348.
5.
SarrisGEDrummond-WebbJJEbeidMRLatsonLA.Anomalous origin of left coronary from right pulmonary artery in hypoplastic left heart syndrome. Ann Thorac Surg. 1997;64(3):836-838.
6.
NathanMEmaniSMarxGPigulaF.Anomalous left coronary artery arising from the pulmonary artery in hypoplastic left hearts: case series and review of literature. J Thorac Cardiovasc Surg. 2011;142(1):225-227.
7.
Nosál’MOmejeICPorubanR.Hypoplastic left heart syndrome with anomalous origin of left coronary artery from the right pulmonary artery: successful surgical treatment in a neonate. Eur J Cardio-thorac Surg. 2005;28(3):497-498.
8.
ItoTNiinoMIshikawaJ, et al. Hypoplastic left heart syndrome with a single coronary artery originating from the pulmonary artery. Pediatr Int. 1995;37(1):61-63.
9.
NathanMWilliamsonAKMayerJEBachaEAJuraszekAL.Mortality in hypoplastic left heart syndrome: review of 216 autopsy cases of aortic atresia with attention to coronary artery disease. J Thorac Cardiovasc Surg. 2012;144(6):1301-1306.
10.
HuseynovaRMahmoudLBAlshenqitiAAlomranKAlodaidanNHuseynovO.A rare combination of chromosomal abnormalities in an infant with turner syndrome and hypoplastic left heart syndrome. Cureus. 2021;13(7):e16500.
11.
GrossfeldPMattinaTLaiZFavierRJonesKLCotterFE.The 11q terminal deletion disorder Jacobsen syndrome: report of 11 cases and review of the literature. Am J Med Genet. 2004;129A(1):1-16.
12.
FerrignoFFranceschiniAKirkRAmodeoA.Jacobsen syndrome with hypoplastic left heart syndrome: outcome after cardiac transplantation. J Cardiovasc Dev Dis. 2022;10(1):8.
13.
GelbBDTartagliaM.Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction. Hum Mol Genet. 2015;24(R1):R64-R68.
14.
ZakariaDTangXBhaktaRElHassanNOProdhanP.Chromosomal abnormalities affect the surgical outcome in infants with hypoplastic left heart syndrome: a large cohort analysis. Pediatr Cardiol. 2018;39:11-18.
15.
GlauserTAZackaiEWeinbergPClancyR.Holt-Oram syndrome associated with the hypoplastic left heart syndrome. Clini Genet. 1989;36(1):69-72
16.
ZaidiSBruecknerM.Genetics and genomics of congenital heart disease. Circ Res. 2017;120(6):923-940.
17.
McBrideKLPignatelliRLewinM, et al. Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: segregation, multiplex relative risk, and heritability. Am J Med Genet Part A. 2005;134(2):180-186.
18.
GabrielGCYagiHXuXLoCW.Novel insights into the etiology, genetics, and embryology of hypoplastic left heart syndrome. World J Pediatr Congenit Heart Surg. 2022;13(5):565-570.
19.
CoxDMButlerMG. The 15q11. 2 BP1–BP2 microdeletion syndrome: a review. Int J Mol Sci. 2015;16(2):4068-4082.
20.
SoemediRWilsonIJBenthamJ, et al. Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. Am J Hum Genet. 2012;91(3):489-501.
21.
DavisKWSerranoMLoddoS, et al. Parent-of-origin effects in 15q11. 2 BP1-BP2 microdeletion (Burnside-Butler) syndrome. Int J Mol Sci. 2019;20(6):1459.
22.
LiXShiGLiY, et al. 15q11. 2 deletion is enriched in patients with total anomalous pulmonary venous connection. J Med Genet. 2021;58(2):116-124.
