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Cutis laxa syndrome with ascending aortic aneurysm in a child: Bentall procedure and subsequent interventional rescue

Published online by Cambridge University Press:  22 December 2025

Cynthia M. Rosario
Affiliation:
Departments of Cardiology, Cedimat Cardiac Center, Santo Domingo, Dominican Republic
Adabeyda Baez
Affiliation:
Departments of Cardiology, Cedimat Cardiac Center, Santo Domingo, Dominican Republic
Rebeca Perez
Affiliation:
Departments of Cardiology, Cedimat Cardiac Center, Santo Domingo, Dominican Republic
Rodrigo Soto*
Affiliation:
Gift of Life International, Fresh Meadows, NY, 11365, USA
Leidys Villar
Affiliation:
Cardiac Surgery, Cedimat Cardiac Center, Santo Domingo, Dominican Republic
Michelle Feliz
Affiliation:
Cardiac Surgery, Cedimat Cardiac Center, Santo Domingo, Dominican Republic
*
Corresponding author: Rodrigo Soto; Email: rodrigo.soto@mac.com

Abstract

This case report details the diagnosis and surgical management of a 7 cm aortic root aneurysm occurring in a 12-year-old with cutis laxa type B, an extremely rare connective tissue disorder. Our patient underwent a Bentall procedure as primary treatment for the aneurysm and had a successful interventional treatment of a postoperative pseudoaneurysm.

Information

Type
Original Article
Copyright
© The Author(s), 2025. Published by Cambridge University Press

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Footnotes

Addendum: “Seven months after device closure of an aortic fistula, our patient presented with a pulsatile, painless erythematous sternal mass. He reported no history of fever or other symptoms. The white blood cell count was 3,810/mm³ (neutrophils 54%, lymphocytes 28%, monocytes 14%, eosinophils 3%), hemoglobin 9.5 g/dL, hematocrit 32.2%, and platelet count 310,000/mm³. A COVID-19 test was positive. Computed tomography angiography revealed the previously seen thrombosed pseudoaneurysm measuring 13.7 × 13.1 cm. Inside it, two new pseudoaneurysms were identified, both showing contrast enhancement similar to the aorta. One was located near the prosthetic aortic valve, measuring 7 × 4 cm, and the other near the closure device at the ascending aorta, measuring 3.1 × 2.5 cm. Additionally, a well-defined, encapsulated mass measuring 3.5 × 3.2 cm was observed in the thoracic wall. The patient underwent emergency surgery. Femoral bypass was established, and cooling was initiated. During cooling, the sternum was reopened, and a large amount of fibrin and clot was removed. A significant flow of oxygenated blood began to flow from the mediastinum, preventing further cooling on CPB. As a result, at 30°C, CPB was stopped to examine the anatomy and locate the bleeding site. After removing all tissue from the pseudoaneurysm, we observed that large sections of the native aorta in the proximal arch and at the junction with the graft were missing. The graft was completely loose within the chest cavity and beyond repair. Based on these findings and the impossibility of maintaining cardiopulmonary bypass with an aorta beyond repair, support was discontinued, and the patient died intraoperatively. Presumed cause of death was infected pseudoaneurysm with aortic disruption, with underlying severe aortopathy of cutis laxa syndrome. We submit this followup to reinforce the unpredictability of this disease despite comprehensive surgical treatment.

References

Krishnan Nair, JT, Pillai, MN, Mathew, T, et al. Successful surgical intervention for giant thoracic aortic aneurysm in cutis laxa aortopathy. J Thorac Cardiovasc Surg Tech 2022; 14: 180183.Google ScholarPubMed
Sülü, A, Başpınar, O, Şahi, DA. Giant aortic aneurysm due to fibulin-4 deficiency: case series. Turk Pediatri Arsivi 2019; 54: 119124.Google ScholarPubMed
Morales, A, Ramírez Carlos, SM, Mena, A, et al. Cutis laxa syndrome. Dermatología Cosmetica Medica Quirugica 2011; 91: 2933.Google Scholar
Saul, S, Kandula, V, Donuru, A, et al. Large aortic pseudoaneurysm after Bentall procedure in a patient with Marfan’s syndrome. Ann Pediat Cardiol 2022; 15: 314316.CrossRefGoogle Scholar
Galeczka, M, Anel, A, Dyrbus, K, et al. Fistula between an ascending aortic pseudoaneurysm and the pulmonary artery: its percutaneous closure and why do we need novel imaging modalities? Eur Heart J Cardiovasc Imaging 2025; 31: jeaf022.Google Scholar
Di Marco, L, Lovato, L, Murana, G, et al. Endovascular repair of ascending aorta pseudoaneurysm. J Vis Surg 2018; 4: 116.CrossRefGoogle ScholarPubMed