Simultaneous repair of aortic aneurysm and pectus excavatum in Marfan syndrome

Abstract

Marfan syndrome is a genetic connective tissue disorder that affects multiple systems, primarily the cardiovascular and musculoskeletal systems. Its management requires a multidisciplinary approach. In patients with ascending aortic aneurysm and aortic valve insufficiency, the Bentall and De Bono procedure is indicated. If pectus excavatum is present, surgical correction using the Ravitch or Nuss techniques is considered. We present the case of a 23-year-old male with Marfan syndrome, ascending aortic aneurysm, severe aortic insufficiency, and pectus excavatum. A single-stage combined intervention was performed using the Bentall and De Bono technique for cardiac repair and the Ravitch technique for thoracic reconstruction, employing the STRATOS system and titanium bars. We describe the surgical technique, emphasizing preoperative considerations for performing a combined procedure. Although combined procedures involve greater complexity and operative risk, this report and selected previous cases suggest that simultaneous correction of cardiac and chest wall deformities can be safe and effective.

Resumen

El síndrome de Marfan es un trastorno genético del tejido conectivo que afecta múltiples sistemas, principalmente los sistemas cardiovascular y musculoesquelético. Su manejo requiere un enfoque multidisciplinario. En pacientes con aneurisma de la aorta ascendente e insuficiencia de la válvula aórtica, está indicada la cirugía de Bentall y De Bono. Si existe pectus excavatum, se considera la corrección quirúrgica mediante las técnicas de Ravitch o Nuss. Presentamos el caso de un varón de 23 años con síndrome de Marfan, aneurisma de aorta ascendente, insuficiencia aórtica severa y pectus excavatum. Se realizó una intervención combinada en un solo tiempo empleando la técnica de Bentall y De Bono y la técnica de Ravitch para la reconstrucción torácica con el sistema STRATOS y barras de titanio. Describimos la técnica quirúrgica, enfatizando consideraciones preoperatorias para realizar un procedimiento combinado. Aunque los procedimientos combinados implican mayor complejidad y riesgo operatorio, este reporte y casos seleccionados previos indican que, la corrección simultánea cardiaca y de la pared torácica puede ser segura y efectiva.

Introduction

Marfan syndrome is the most common inherited connective tissue disorder, with an incidence of 1 in 10,000 live births. It is caused by mutations in the fibrillin-1 (FBN1) gene located at chromosome 15q21.1. It affects both sexes equally, and a family history is present in approximately 75% of cases.^1–3

There is no clear genotype–phenotype correlation; however, some features do not manifest in all Marfan variants. Mutations affecting exons 24–32 of chromosome 15 are associated with a stronger genotype–phenotype correlation, are less common, and tend to produce a more severe and extensive clinical presentation.^1–4

Fibrillin is the principal glycoprotein of extracellular microfibrils that form and maintain elastic fibers in connective tissue. These microfibrils adopt a specific architecture that provides stability to tissues subjected to constant stretch. They are present in blood vessels, cartilage, muscle, cornea and lens. Mutations lead to altered proteolysis, resulting in fragmentation and disorganization of elastic fibers and triggering an inflammatory response that accelerates elastolysis. This process leads to structural collapse, reducing tissue elasticity and distensibility. In the aorta, cystic medial degeneration and necrosis occur, affecting the intima and media and predisposing to aneurysm formation.^1–5

Clinical manifestations largely depend on the patient's age at evaluation, since the disease often presents incompletely before 18 years of age. Commonly affected systems include the cardiovascular, musculoskeletal and ocular systems. Aortic aneurysm occurs in 70–80% of patients and represents the most serious complication because of valve insufficiency secondary to annular dilatation and the high risk of dissection and rupture, which are the main drivers of associated morbidity and mortality. Chest wall deformities, including pectus excavatum and pectus carinatum, affect up to 70% of patients with Marfan syndrome.^1,3–6

Diagnosis is established using the Ghent criteria, which require at least one major criterion in two different organ systems. Historically, there has been significant concern regarding the combined surgical management of chest wall defects and cardiac surgery in patients with Marfan syndrome. One specific consideration remains that the preferred timing for corrective surgery is at the end of adolescence, which is associated with lower recurrence during the pubertal period.^1,3–6

The standard surgical technique for treating ascending aortic aneurysm consists of replacing the dilated segment of the aorta with a vascular graft. When aortic valve damage coexists with annular dilation and regurgitation, several surgical techniques are currently available for its correction like David, Yacoud or Bentall–Bono surgery.^7–15

In young patients, aortic valve-sparing surgery becomes particularly relevant, especially in Marfan syndrome, as it avoids the need for early anticoagulation. However, each technique has specific technical considerations, and when an absolute contraindication is present – such as severely damaged aortic leaflets with significant calcification or retraction that prevents adequate coaptation – valve replacement with a prosthesis or a Bentall–De Bono procedure is indicated.^7–15

The Bentall and De Bono procedure involves replacement of the aortic valve and ascending aorta with a valved conduit using a mechanical or biological prosthesis, together with reimplantation of the coronary ostia.^7–15

Pectus excavatum is a chest wall deformity characterized by an anterior sternal depression that typically begins in the mid-manubrial region and progresses inward toward the xiphoid process. The severity of pectus excavatum depends on: (a) the extent of the deformity; (b) cardiopulmonary morbidity; and (c) the psychosocial impact perceived by the patient regarding body image.^{1,4,8,16–18}

In addition to the mediastinal displacement that can be observed on imaging studies, the Haller index is a quantitative method used to assess the potential cardiopulmonary compromise caused by the chest wall deformity. It was first described in 1987. The index is calculated by dividing the transverse diameter of the thorax by the minimal anteroposterior distance between the sternum and the vertebral column. It is used to classify the severity of pectus excavatum and to guide therapeutic decision-making. A Haller index is considered mild when it is less than 3.25, severe when it is equal to or greater than 3.25, and very severe when it exceeds 3.5. Mild deformities are usually managed conservatively with observation, whereas severe or very severe cases are candidates for surgical correction.^16–18

Two main techniques have been described for the correction of pectus excavatum: a minimally invasive approach, known as the Nuss procedure, and a traditional open approach, the Ravitch technique.^{3,6–9,17–22}

The Ravitch procedure is based primarily on the resection of the deformed costal cartilages to free the sternum and reposition it anatomically. A generally horizontal incision is made to provide adequate exposure, the pectoral muscles are separated, and a bilateral subperichondrial chondrectomy is performed. Finally, a transverse wedge osteotomy is carried out to bend and advance the sternum. Titanium bars or plates are used to stabilize the repair. This technique is effective for severe deformities and is preferred in adult patients with rigid cartilage. Its main disadvantages include extensive tissue dissection, which results in greater postoperative pain, a higher risk of infection, and a longer recovery time.^6,17–22

The Nuss procedure involves making two lateral incisions along the mid-axillary line on each side of the chest, followed by the creation of a retrosternal tunnel above the pericardium under direct thoracoscopic visualization. A curved metal bar (Nuss bar) is introduced with its concavity facing posteriorly. Once the bar is passed across the thorax and exits through both lateral incisions, it is rotated 180 degrees, exerting anterior pressure on the sternum and elevating it. The bar is then secured to the ribs with stabilizers or sutures to prevent migration. This technique is preferred in growing patients, as the bar can be removed after 2–4 years once the chest wall has remodeled. Its main disadvantage is the risk of bar migration and the potential for injury to mediastinal structures during tunneling.^6,17–22

Case report

A 23-year-old male with no relevant family history. Since birth he has had congenital divergent strabismus. At age 15 he developed lens dislocation treated by vitrectomy and was subsequently diagnosed with an ascending aortic aneurysm, severe aortic regurgitation, and pectus excavatum (Fig. 1), remaining under regular outpatient surveillance.

Fig. 1.

Pectus excavatum.

Since age 22 he reports dyspnea on moderate exertion, accompanied by mild chest pain, presyncope, palpitations, and paresthesia in the left upper limb, symptoms that remit with rest.

Transthoracic echocardiography showed a left ventricular ejection fraction (LVEF) of 48%. The aortic root demonstrated severe annular dilation; the aortic valve was tricuspid with severe regurgitation due to two regurgitant jets, with vena contracta measurements of 5 mm and 3 mm, respectively. Hemipressure time was 447 ms. Severe dilation of the sinus of Valsalva was present. Left ventricular outflow tract (LVOT) diameter was 28 mm. Diameter of the sinuses of Valsalva: 60 mm.

Computed tomographic angiography demonstrated dilation of the aortic root, with diameters at the level of the sinuses of Valsalva measuring 53.8 mm × 55.3 mm and a sinotubular junction diameter of 54.3 mm. In the same study, the coronary arteries were evaluated and no evident lesions were identified. Regarding the chest wall, an anterior deformity consistent with pectus excavatum was described, with a Haller index of 5.0 (Fig. 2).

Fig. 2.

(A) Axial slice for assessment of the Haller index. Note the leftward displacement of mediastinal structures. (B) Measurement at the level of the sinuses of Valsalva. (C) 3D reconstruction of the aorta demonstrating an ascending aortic aneurysm.

Surgical technique

A standard median sternotomy was performed. After dissecting the subcutaneous tissue, the sternal deformity became evident (Fig. 3A). The sternum was opened with great caution due to the severe displacement of the vascular structures observed on the CT scan. Despite this, there were no difficulties in identifying and dissecting the major vascular structures, and once the sternal retractor was placed, the heart and great vessels shifted to a more medial position, providing easy access to the aortic root. Upon identification of the innominate (brachiocephalic) vein, it was retracted to allow wide dissection of the ascending aorta up to the brachiocephalic trunk.

Fig. 3.

(A) Following skin and subcutaneous tissue incision, the sternum is exposed along with deformed costal cartilages. (B) Ascending aortic aneurysm. The transverse sinus of Theile is dissected and isolated with a tape. (C) Central cannulation and aortic cross-clamping. (D) AA: aortic annulus; coronary buttons are prepared. RCO: right coronary ostium. LCO: left coronary ostium. (E) A prefabricated Dacron graft with a mechanical aortic valve is implanted.

After opening and suspending the pericardium, the aortic aneurysm was identified, the transverse sinus of Theile was dissected, and a fabric tape was passed to retract the aorta (Fig. 3B).

It is essential to assess whether sufficient space exists for arterial cannulation, aortic cross-clamping and distal anastomosis; if not, axillary or femoral arterial cannulation should be considered. In this case central arterial cannulation was performed, with a two-stage venous cannula in the right atrium and a vent cannula positioned in the right superior pulmonary vein (Fig. 3C).

Aortic cross-clamping was applied. Given the presence of severe aortic regurgitation, the ascending aorta was immediately opened and cold Custodiol cardioplegia was delivered directly through the coronary ostia. Ice was placed over the left ventricle as part of myocardial protection.

The degree of hypothermia used during cardiopulmonary bypass was moderate, at 28 °C. With the heart arrested, aortotomy was performed, revealing severely prolapsed and markedly lax aortic leaflets. The leaflets were therefore resected, and valve replacement was indicated. Pre-aortic (Koncato) fat was dissected, and the coronary ostial buttons were identified, dissected and prepared. Sutures were placed in the aortic annulus, and a prefabricated aortic conduit consisting of a 34-mm vascular graft and a 31-mm mechanical aortic prosthesis was implanted (Fig. 3C–E). The coronary ostiums were reimplanted into the vascular graft using a pericardial patch ring to reinforce the suture line and prevent leaks. Cardiopulmonary bypass time was 150 min, and aortic cross-clamp time was 110 min.

After achieving an adequate temperature, the aortic cross-clamp is removed and weaning from cardiopulmonary bypass is initiated. Following confirmation of adequate hemostasis and myocardial contractility, protamine infusion was started and the vent, venous and arterial cannulas were removed. With a final activated clotting time of 119 s and absence of bleeding at the anastomotic sites, repair of the pectus excavatum was started.

A notable finding in this case was a very thin, narrow sternum. The posterior pectoral fascia was dissected bilaterally to the mid-clavicular line, preserving as much sternal bone and muscular tissue as possible to promote wound healing.

The bilateral costal cartilages of the 2nd to 6th ribs were identified; the periosteum was opened and the cartilages were resected (Fig. 4A–C). The STRATOS system was then applied with bilateral clips on the 2nd and 4th costal arches, to which two titanium bars were fixed (Fig. 4D). At this stage the sternum was closed and the titanium bars were positioned posterior to the sternum to provide additional support to the anterior thoracic soft tissues (see schemaFig. 5). Finally, three drains were placed: two 36-Fr mediastinal drains and one Jackson–Pratt drain was positioned between the sternum and the subcutaneous tissue (Fig. 6A and B).

Fig. 4.

(A) Preparation of muscular flaps is initiated, and costal cartilages from the 2nd to the 6th ribs are dissected (S: sternum; C: cartilage; M: muscle). (B) Resection of costal cartilages is performed, preserving the periosteum and avoiding injury to the neurovascular bundle. (C) Resected costal cartilages. (D) Titanium bars from the STRATOS system are placed.

Fig. 5.

Representative schematic of Stratos system placement.

Fig. 6.

(A and B) Postoperative view of corrected pectus excavatum. (C) Postoperative follow-up chest X-ray.

The patient was admitted to the intensive care unit, where he remained for 4 days. He was extubated 8 h after surgery, maintaining adequate ventilatory mechanics. He reported a pain score of 8 on the visual analog scale, which was managed with opioids and acetaminophen with good response. During the first 24 postoperative hours, he required dobutamine at 5 μg/kg/min due to low cardiac index and output. After 96 h of hemodynamic stability without inotropic support, adequate pain control, and no ventilatory impairment, he was transferred to the general ward, where he remained for 11 days until drain removal (Fig. 6C) and achievement of anticoagulation targets. The patient was discharged on postoperative day 15, with no evidence of wound infection. He is currently under outpatient follow-up.

Discussion

Marfan syndrome is the most common inherited connective tissue disorder. Commonly affected systems include the cardiovascular, musculoskeletal and ocular systems. In our patient, divergent strabismus and lens dislocation treated with vitrectomy at age 15 were documented. Skeletal manifestations included retrognathia, limited elbow extension and pectus excavatum. Although most Marfan patients exhibit excessive linear growth of long bones and joint laxity, our patient's stature was average (165 cm) and he lacked arachnodactyly. Cardiovascular involvement included an ascending aortic aneurysm and severe aortic regurgitation secondary to dilatation.^1–5

Regarding complementary studies, transthoracic or transesophageal echocardiography is useful to evaluate associated congenital heart disease and to exclude other valvulopathies. In cases of aortic aneurysm and musculoskeletal alterations such as pectus excavatum, computed tomography allows assessment for dissection and the degree of mediastinal structure compromise secondary to the osseous deformity.^1,4,16–18

The multisystem nature of this disease requires a multidisciplinary approach. Medically, management centers on beta-blockers and angiotensin II receptor blockers to reduce shear stress on the aortic wall and lower the risk of dissection by strict control of blood pressure and heart rate.^1–6

This patient met surgical criteria for ascending aortic replacement, given an aortic aneurysm diameter greater than 50 mm. He also had an indication for correction of pectus excavatum, based on clinical findings, mediastinal displacement, and a Haller index greater than 3.5. Regarding the aortic valve, a postoperative assessment was planned to determine whether an aortic root repair with valve preservation could be performed, or whether replacement with a mechanical prosthesis would be required.^3,4,6,8

About the aortic valve surgical technique selected, as mentioned in the introduction, there are procedures that allow preservation of the native aortic valve. In the Yacoub technique, the aneurysmal aortic root is resected while preserving the native leaflets and maintaining the natural anatomy of the sinuses of Valsalva. Its main limitation in patients with Marfan syndrome is that it does not stabilize the aortic annulus, which tends to dilate progressively due to connective tissue weakness, leading to a high risk of recurrent aortic regurgitation. The David technique is preferred in patients with Marfan syndrome because the Dacron graft is sutured directly to the aortic annulus, preventing further dilation, and the valve is reimplanted within the vascular prosthesis. For both valve-sparing techniques, it is essential that the leaflets are not structurally compromised, which was not the case here. Upon inspection, our patient's leaflets were extremely lax, completely prolapsed, and their coaptation mechanism was severely impaired; therefore, a Bentall–De Bono procedure was performed. This last procedure is associated with improved prognosis, with reported perioperative mortality around 1.5% and five-year survival approximately 84%.^8–17

For the surgical correction of pectus excavatum, we described at the beginning of this article both the Ravitch and Nuss techniques. Given the open approach planned for this surgery and the potential need for mediastinal exploration following cardiac surgery, the Nuss procedure was not considered.

In the Ravitch technique, titanium bars provide support to the anterior chest wall. They may be placed either over or behind the sternum, depending on the circumstances. Placement over the sternum is used when the bone has been completely destroyed or when no viable osseous tissue remains for fixation. In our patient, since a longitudinal sternotomy was performed and the costal cartilages were released, the remaining bone was approximated with surgical wire, and the bars were positioned posterior to the sternum to provide greater support to the anterior chest wall. We emphasize preserving and approximating the remaining sternal bone and vascularized tissue to promote optimal wound healing. As previously mentioned, this technique is preferred in adult patients, and fortunately, we encountered no complications such as infection, while postoperative pain was adequately controlled with acetaminophen. A meta-analysis including 13 studies with 1432 patients found fewer complications with Ravitch in adults.^{6–9,18–22}

Historically, there has been controversy about performing both procedures in a single operative session. Combined surgery is uncommon, and some authors advocate staged operations – first cardiovascular repair, then chest wall reconstruction – citing risks such as limited cardiac exposure, excessive bleeding, infection and prolonged operative time. Nevertheless, although uncommon, successful single-stage combined procedures have been reported.^3,8–15

Based on our experience and review of similar cases, we propose the following considerations to recommend performing both procedures in the same operative session:

• (a)

  Adequate nutritional status of the patient.

• (b)

  Absence of technical complications at the end of the cardiac procedure, such as hemorrhage requiring packing or return to the operating room.

• (c)

  Maintenance of adequate myocardial contractility after separation from cardiopulmonary bypass (CPB), with hemodynamic stability during anticoagulation reversal.

• (d)

  Effective hemostasis and absence of bleeding in deep layers; objective assessment may include ROTEM, thromboelastography, or final activated clotting time.

If any of the above criteria are not met, performing chest wall correction may increase the risk of bleeding and the need for reintervention, which not only wastes resources but also raises the risk of injury to underlying tissues when removing sternal fixation material, thereby increasing the likelihood of an unfavorable clinical course.

Conclusions

Cardiac and chest wall involvement pose a major surgical challenge, and a key decision is whether to perform partial or complete correction in a single operative stage. This case demonstrates that simultaneous correction of cardiac and chest wall deformities can be performed safely and effectively. The experience emphasizes the importance of thorough preoperative evaluation and multidisciplinary planning to minimize risks and optimize outcomes. Sharing such reports contributes to the growing evidence supporting combined surgical approaches in selected patients.

CRediT authorship contribution statement

• •

  Rodrigo Cueva-Tutillo: Conceived and designed the analysis. Collected the data. Contributed data or analysis tools. Performed the analysis. Wrote the paper.

• •

  Ignacio Salazar-Hernández: Collected the data. Contributed data or analysis tools.

• •

  Octavio Flores-Calderón: Collected the data. Contributed data or analysis tools.

• •

  Karen Ferreyro-Espinosa: Collected the data. Contributed data or analysis tools.

• •

  Serafín Ramírez-Castañeda: Collected the data. Contributed data or analysis tools.

Ethical disclosures

The authors declare that a written informed consent was obtained for the publication of the case.

Declaration of generative AI and AI-assisted technologies in the writing process

The authors declare that they do not use IA for write this article.

Funding

No funding was received for this article.

Conflict of interest

The authors declare that they have no competing interests.