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Thoracotomy-assisted arterial duct stenting in a 1.6-kg infant with Kleefstra syndrome: a case report

Published online by Cambridge University Press:  29 August 2025

Atsushi Maruyama,
Taisuke Nabeshima and
Takuro KojimaOpen the ORCID record for Takuro Kojima[Opens in a new window]
Atsushi Maruyama
Affiliation:
Department of Pediatric Cardiology, Saitama Medical University International Medical Center, Saitama, Japan
Taisuke Nabeshima
Affiliation:
Department of Pediatric Cardiology, Saitama Medical University International Medical Center, Saitama, Japan
Takuro Kojima*
Affiliation:
Department of Pediatric Cardiology, Saitama Medical University International Medical Center, Saitama, Japan
*
Corresponding author: Takuro Kojima; Email: t_kojima@saitama-med.ac.jp
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Abstract

Thoracotomy-assisted arterial duct stenting is a palliative option for patent ductus arteriosus-dependent systemic circulation, typically reserved for infants at high risk for open-heart surgery, such as those with genetic syndromes or very low birth weight. We report the first documented case of thoracotomy-assisted arterial duct stenting in a patient with Kleefstra syndrome, resulting in systemic stabilisation and long-term survival.

Keywords

Kleefstra syndromethoracotomy-assisted arterial duct stentinglow-birth-weight infantcongenital heart disease

Information

Type
Case Report
Information
Cardiology in the Young , Volume 35 , Issue 9 , September 2025, pp. 1932 - 1933
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Copyright
© The Author(s), 2025. Published by Cambridge University Press

Introduction

Thoracotomy-assisted arterial duct stenting is a well-established palliative strategy for CHD in which systemic circulation relies on ductal patency. It is commonly employed in patients with high surgical risk, including those with low birth weight or genetic syndromes. In hypoplastic left heart syndrome requiring Norwood surgery, hybrid stage I palliation—combining thoracotomy-assisted arterial duct stenting and bilateral pulmonary artery banding—is an accepted initial approach. Reference Osami and Caldarone1

Kleefstra syndrome is caused by a 9q34.3 microdeletion and is characterised by distinctive craniofacial features and developmental delay. Reference Kleefstra, Brunner and Amiel2 CHD occurs in approximately 30–50% of cases, Reference Xie, He and Sheng3 but no specific cardiac phenotype is characteristic of the syndrome. Reference Xie, He and Sheng3 Although hypoplastic left heart syndrome has been reported, there are no previous reports of thoracotomy-assisted arterial duct stenting in patients with Kleefstra syndrome.

We describe the first case of thoracotomy-assisted arterial duct stenting in a 1.6-kg infant with Kleefstra syndrome.

Case report

The patient was prenatally diagnosed with CHD, and amniocentesis confirmed Kleefstra syndrome. She was delivered at 36 weeks and 6 days of gestation, weighing 1,631 g. Postnatal echocardiography revealed double outlet right ventricle, mitral stenosis, aortic stenosis, hypoplastic aortic arch, coarctation of the aorta, and partial anomalous pulmonary venous connection. Cardiac dimensions were as follows: left ventricular end-diastolic dimension, 10.9 mm (Z score –3.3); mitral annulus, 5.9 mm (Z score –2.3); pulmonary valve annulus, 7.3 mm (Z score + 0.7); tricuspid valve annulus, 11.9 mm (Z score + 1.0); and aortic valve annulus, 6.2 mm (Z score + 0.6).

Prostaglandin E1 infusion was initiated at birth, and bilateral pulmonary artery banding was performed on day 2 (right pulmonary artery circumference, 9.25 mm; left, 9.0 mm). Prostaglandin infusion was continued while attempting weight gain for staged palliation; however, by day 15, progressive ductal narrowing required increased prostaglandin dosing. Treatment-related adverse effects necessitated prolonged intensive care, impeding weight gain.

Given the anticipated need for prolonged ductal patency, thoracotomy-assisted arterial duct stenting with bilateral pulmonary artery ligation was performed at 56 days of age (weight, 1,657 g) to facilitate left ventricular training (right pulmonary artery circumference, 10.0 mm; left, 9.0 mm). A re-median sternotomy was performed uneventfully. A 6-Fr sheath was introduced into the main pulmonary artery, a V-18 wire (Boston Scientific, MA, USA) was advanced, and a 6 × 14-mm Express Vascular SD stent (Boston Scientific) was successfully deployed without procedural complications (Figures 1 and 2.

Necrotising enterocolitis developed on postoperative day 1. No free air was observed on abdominal radiography, and hematochezia resolved rapidly. However, enteral feeding tolerance and overall clinical condition remained poor. Pulmonary artery band adjustment was performed on day 91 (right pulmonary artery circumference, 9.25 mm; left, 9.0 mm) with minimal clinical improvement. Lower gastrointestinal imaging revealed descending colon stenosis, and stoma augmentation was performed on day 100. Intraoperatively, a small-bowel perforation was identified. Following stoma augmentation, the patient’s systemic condition stabilised, she was discharged from intensive care, and hospital discharge is planned.

Discussion

To our knowledge, this is the first reported case of thoracotomy-assisted arterial duct stenting in a patient with Kleefstra syndrome. Previous reports describe patients with hypoplastic left heart syndrome and Kleefstra syndrome who died under palliative care without surgical intervention. Reference Candace, Thomas RC and Yuri4 Furthermore, no case of single-ventricle physiology in Kleefstra syndrome has been reported to achieve Fontan circulation. Patients without CHD typically exhibit severe developmental delay but no significant growth impairment, Reference Karlak, Jankowski and Kolasińska5 and pulmonary vascular characteristics in this syndrome remain poorly defined.

In this case, biventricular repair was considered feasible based on mitral valve size and left ventricular diastolic function. Although partial anomalous pulmonary venous connection was an unfavourable factor, thoracotomy-assisted arterial duct stenting was chosen after bilateral pulmonary artery banding to enable long-term management and left ventricular training.

Necrotising enterocolitis complicated the postoperative course, necessitating pulmonary artery band adjustment and delayed stoma augmentation. Earlier recognition of intestinal perforation and timely surgical intervention might have shortened hospitalisation.

Conclusion

This is the first reported case of thoracotomy-assisted arterial duct stenting in a 1.6-kg infant with Kleefstra syndrome. Despite postoperative necrotising enterocolitis, appropriate surgical and medical management achieved systemic stabilisation and readiness for discharge. Thoracotomy-assisted arterial duct stenting may represent a valuable palliative option in syndromic patients for whom Fontan circulation has not been previously reported.

Figure 1.

A 6-Fr sheath was inserted into the main pulmonary artery under thoracotomy, and contrast medium was injected. The aorta and aortic arch are visible via the ductus arteriosus from the main pulmonary artery. A ridge is visible on the pulmonary artery side.

Figure 2.

Contrast was administered after stent placement. The stent was placed in the ductus arteriosus, and no stenosis was observed.

Acknowledgements

The authors thank their colleagues at Saitama Medical University who performed the cardiac surgery.

Competing interests

None.

References

Osami, H, Caldarone, CA. Hybrid palliation for neonates with hypoplastic left heart syndrome: current strategies and outcomes. Korean Circ J 2010; 40: 103–111.Google Scholar
Kleefstra, T, Brunner, HG, Amiel, J, et al. Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet 2006; 79: 370–377.CrossRefGoogle ScholarPubMed
Xie, H, He, P, Sheng, Q, et al. Highlighting cardiovascular manifestations of Kleefstra syndrome: literature review and clinical insights. BMC Cardiovasc Disord 2025; 25: 175.CrossRefGoogle ScholarPubMed
Candace, LC, Thomas RC, II, Yuri, AZ. Severe neonatal presentation of Kleefstra syndrome in a patient with hypoplastic left heart syndrome and 9q34.3 microdeletion. Birth Defects Res A Clin Mol Teratol 2014; 100: 985–990.Google Scholar
Karlak, V, Jankowski, J, Kolasińska, J, et al. Kleefstra syndrome—dental manifestations and needs: a case report with a literature review. Case Rep Dent 2023; 2023: 2478465.Google Scholar
Figure 0

Figure 1.A 6-Fr sheath was inserted into the main pulmonary artery under thoracotomy, and contrast medium was injected. The aorta and aortic arch are visible via the ductus arteriosus from the main pulmonary artery. A ridge is visible on the pulmonary artery side.

Figure 1

Figure 2.Contrast was administered after stent placement. The stent was placed in the ductus arteriosus, and no stenosis was observed.