Pectus carinatum in Marfan syndrome

Case description

An 83-year-old female with a history of Marfan syndrome and prior surgical management of cerebral and aortic aneurysms in 1988 and 1999 was transferred to our intensive care for weaning of invasive mechanical ventilation.

The patient was initially intubated due to hypoxic respiratory failure following severe coronavirus disease 2019 (COVID-19) acute respiratory distress syndrome (ARDS) and subsequently underwent tracheostomy, remaining on mechanical ventilation for over 50 days. Later on, the patient showed respiratory improvement over time, spontaneous breathing trials (SBTs) were conducted, leading to successful weaning from the mechanical ventilation.

Upon assessment of the capnometry results and recognized restrictive ventilatory disorders due to an evident chest wall deformity by pectus carinatum (PC), which was obviously seen in computed tomography (CT) thorax (Figure 1). Non-invasive ventilation (NIV) was initiated and well-tolerated. A written informed consent was obtained from the patient.

Figure 1 CT chest; mediastinal window. (A,B) Axial, (C) sagittal CT chest showed bulging of the sternum and anterior chest wall representing a pectus carinatum. CT, computed tomography.

PC is a rare chest wall deformity, translates to “chest with keel” in Latin. It affects about 1/1,500 live birth, showing a male predominance and often runs in families. The exact cause of PC is unclear, but it’s linked to abnormal growth of costal cartilage, sternum or ribs. Various genetic syndromes, like Marfan syndrome, Noonan syndrome, Poland syndrome and Coffin-Lowry syndrome, are associated with PC. PC is found in up to 70% of individuals with Marfan syndrome. Most of the cases are asymmetric, in spite of the permanent dramatic worsening of the adolescent growth. Surgical referral for PC is often driven by cosmetic rather than functional consideration. The pectus severity index (PSI) or Haller index helps assess the severity of chest wall deformity, in our case the PSI was 1.3. Chest wall deformities like PC typically don’t impact the respiratory pump. However, when combined with other deformities (e.g., scoliosis or kyphoscoliosis) or diseases (e.g., advanced heart failure or post COVID-19 lung fibrosis), as in our case, the risk of restrictive ventilatory disease and hypercapnia rises, necessitating the use of NIV.

Acknowledgments

Funding: None.

Footnote

Provenance and Peer Review: This article was a standard submission to the journal. The article has undergone external peer review.

Peer Review File: Available at https://amj.amegroups.com/article/view/10.21037/amj-23-224/prf

Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at https://amj.amegroups.com/article/view/10.21037/amj-23-224/coif). The authors have no conflicts of interest to declare.

Ethical Statement: The authors are accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration (as revised in 2013). Written informed consent was obtained from the patient for publication of this article and accompanying images. A copy of the written consent is available for review by the editorial office of this journal.

Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0/.