Extreme Late Presentation of Marfan Aortopathy

Abstract

Background

Marfan syndrome–associated aortic root aneurysms carry a high risk of dissection and sudden death, supporting guideline-directed prophylactic surgery at ≥50 mm.

Case Summary

A 34-year-old man with Marfan syndrome and a strong family history was diagnosed at age 22 years with a 63-mm aortic root aneurysm and moderate aortic regurgitation. He declined recommended Bentall surgery and was lost to follow-up for 12 years. He re-presented with dyspnea and palpitations. Imaging showed a 111 × 108 mm aortic root aneurysm with severe aortic regurgitation and atrial fibrillation. He underwent successful modified Bentall surgery with mechanical valve replacement and AlboGraft conduit and remained asymptomatic at 5 months.

Discussion

Extreme late presentation markedly increases surgical complexity and preventable morbidity.

Take-Home Messages

Extreme late presentation of Marfan aortopathy transforms a standardized prophylactic operation into a technically demanding procedure with significant clinical consequences, even when repair is successful. Delayed intervention permits progression to advanced disease with preventable morbidity, underscoring the importance of timely, guideline-directed management.

Visual Summary

Visual Summary.

Clinical and Surgical Challenges in Advanced Marfan-Related Aortic Disease

Illustration highlighting the technical difficulties, decision-making challenges, and limitations of surgical and clinical management in patients with advanced Marfan aortopathy, underscoring the consequences of delayed intervention and the importance of guideline-directed timing to preserve operability and optimize outcomes. (Note: The Visual Summary Figure has been generated using Adobe Illustrator [Adobe Inc].)

Case Presentation

A 34-year-old man diagnosed with Marfan syndrome at age 8 years, with a strong family history (father with Marfan syndrome and a descending thoracic aortic aneurysm who died suddenly at 38 years of age, brother with Marfan syndrome and aortopathy, surgically treated at age 11 years), presented with 6 months of exertional dyspnea, fatigue, and palpitations (NYHA functional class II). His past medical history included ectopia lentis requiring lens removal during childhood. Genetic testing was not performed in the index patient or affected family members; however, the diagnosis of Marfan syndrome was established clinically in accordance with the Revised Ghent Criteria (2010), with a systemic score of 10, consistent with significant systemic involvement.

Take-Home Messages

• •Extreme late presentation of Marfan aortopathy transforms a standardized prophylactic operation into a technically demanding procedure with significant clinical consequences, even when repair is successful.
• •Delayed intervention permits progression to advanced disease with preventable morbidity, underscoring the importance of timely, guideline-directed management.

Initial presentation (age 22 years)

At age 22 years, he presented with dyspnea (NYHA functional class II). Clinical examination revealed tall habitus, an increased arm-span-to-height ratio, positive wrist and thumb signs, scoliosis, and pectus carinatum.

Two-dimensional transthoracic echocardiography (TTE) demonstrated a 63-mm aortic root aneurysm with chronic dissection, a partially thrombosed false lumen, moderate aortic regurgitation (AR), mild mitral regurgitation, and preserved left ventricular (LV) function. Computed tomography (CT) aortography demonstrated a well-defined saccular pseudoaneurysm arising from the anterolateral wall of the ascending aorta, immediately above the right coronary artery ostium (within 3 mm). The pseudoaneurysm measured 7.7 × 3.3 × 5.9 cm (transverse × anteroposterior × craniocaudal), with a neck measuring 3.7 × 3.9 cm (anteroposterior × craniocaudal). Partial intraluminal thrombosis was present, and the inferior extent of the pseudoaneurysm reached up to the level of the aortic annulus (Figures 1A to 1C). Urgent Bentall surgery was recommended; however, the patient declined and was lost to follow-up for 12 years despite counseling regarding high rupture risk.

Figure 1.

Preoperative CT (2013) Aortography Demonstrating Complex Aortic Root Pathology

(A) Axial computed tomography (CT) image at the level of the aortic arch demonstrating the arch of the aorta and continuity with the distal ascending aorta. The distal part of the ascending aorta is disease free, and the arch of the aorta also appears disease free. (B) Axial CT image showing the distal ascending aorta and descending thoracic aorta, highlighting that the distal part of the ascending aorta and descending thoracic aorta appears disease free. (C) Axial CT image at the level of the aortic root demonstrating an intimal tear immediately above the right coronary artery ostium with a well-defined saccular pseudoaneurysm arising from the anterolateral wall of the aortic root. RCA = right coronary artery.

Re-presentation (age 34 years)

He returned with palpitations, fatigue, and dyspnea on exertion (NYHA functional class II). Blood pressure differed significantly between the upper and lower limbs (right upper limb [172/80 mm Hg] and right lower limb [213/120 mm Hg]). Cardiac examination revealed a displaced apex beat and a high-frequency early diastolic murmur in the neoaortic area. An electrocardiogram showed atrial fibrillation (AF) with rapid ventricular rate. A chest radiograph demonstrated marked cardiomegaly compared with the 2013 radiograph (Figures 2A and 2B).

Figure 2.

Serial Chest Radiographs Demonstrating Progressive Cardiothoracic Changes

(A) Chest radiograph obtained in 2013 showing scoliosis with a dilated ascending aortic contour and preserved cardiac size without cardiomegaly. (B) Chest radiograph obtained in 2025 demonstrating marked dilatation of the ascending aorta with gross cardiomegaly, reflecting progressive cardiac and aortic enlargement over time.

Two-dimensional TTE revealed LV systolic and diastolic dimensions of 54 mm and 38 mm, respectively, an ejection fraction of 44%, global LV hypokinesia, and a massively dilated aortic root (annulus: 31 mm, sinus of Valsalva: 100 mm, sinotubular junction: 89 mm, ascending aorta: 83 mm) (Figures 3A and 3B). Severe AR with holodiastolic flow reversal in the descending aorta was noted.

Figure 3.

Transthoracic Echocardiographic Assessment of Aortic Root Pathology and Left Ventricular Remodeling

(A) Two-dimensional transthoracic echocardiography in a modified apical 5-chamber view demonstrating a markedly dilated left ventricle with associated dilatation of the aortic root and severe aortic regurgitation. (B) Parasternal long-axis view showing marked dilatation of the aortic root and ascending aorta with a prominent aortic regurgitation jet.

CT aortography confirmed a giant 111 × 108 mm aortic root aneurysm with chronic dissecting pseudoaneurysm and eccentric thrombus at the sinotubular junction (Figures 4A to 4D). The CT study also demonstrated dural ectasia consistent with systemic involvement (Supplemental Figure 1). His Society of Thoracic Surgeons operative risk was low (0.418%). After heart team discussion, urgent surgical intervention was planned.

Figure 4.

Preoperative CT Aortography (2025) Demonstrating Advanced Marfan-Associated Aortic Pathology

(A) Axial computed tomography (CT) image at the level of the aortic root demonstrating a large pseudoaneurysm with partial mural thrombus and peripheral calcification, consistent with chronic pathology. An intimal flap is noted, with dissection extending into the proximal ascending aorta. (B) Sagittal reconstruction demonstrating involvement of the ascending aorta, with a disease-free descending thoracic aorta, thereby delineating the longitudinal extent of proximal aortic pathology. (C) Sagittal CT image highlighting the aortic arch, demonstrating preserved arch anatomy in contrast to severe proximal disease. (D) Axial CT image showing a large aortic root pseudoaneurysm with intraluminal thrombus, emphasizing the size and complexity of the lesion before surgical intervention.

Operative Course and Follow-Up

The patient underwent a modified Bentall procedure using a 27-mm TTK Chitra mechanical valve (TTK Healthcare Limited) mounted within a 28-mm AlboGraft polyester vascular graft, along with left atrial appendage exclusion (Figures 5, 6, and 7). Intraoperative assessment revealed massive aneurysmal dilatation of the aorta extending from the aortic root to the mid-ascending aorta, with a maximum diameter of approximately 100 mm. The aortic root and ascending aorta demonstrated chronic dissection with a thrombosed false lumen predominantly involving the right and noncoronary sinuses. The native aortic valve was trileaflet.

Figure 5.

Intraoperative Image Showing Large Aortic Aneurysm Measuring 100 mm

Figure 6.

Intraoperative Image Showing Thrombus Being Extracted From the Dissected Segment and Kept in a Kidney Tray

Figure 7.

Intraoperative Image Showing Bentall Procedure Being Done With 28-mm AlboGraft

After systemic heparinization, the distal ascending aorta, superior vena cava, and inferior vena cava were cannulated, and cardiopulmonary bypass was established. The ascending aorta was transected distal to the dilated segment. The aortic root was completely excised, and the organized thrombus within the false lumen was carefully evacuated (Figure 6). Both coronary ostia were mobilized as coronary buttons, and stay sutures were placed for controlled handling.

The native aortic valve was excised, and the annulus was sized. A total of 29 pledgeted 2-0 Ethibond sutures were placed circumferentially at the annulus. A composite valve-graft conduit was constructed using a 27-mm TTK Chitra mechanical valve within a 28-mm AlboGraft polyester graft (Figure 7). The composite conduit was seated and secured to the annulus. Reimplantation of the left and right coronary buttons was performed using continuous 5-0 polypropylene sutures.

The distal anastomosis between the composite graft and the native ascending aorta was completed using 4-0 polypropylene sutures with circumferential polytetrafluoroethylene felt reinforcement, given the friability of the Marfan aortic tissue and the presence of chronic dissection. The patient was weaned from cardiopulmonary bypass uneventfully with low-dose noradrenaline support.

The patient was transferred to the intensive care unit, extubated the following day, and inotropic support was gradually tapered. Postoperative 2D TTE demonstrated a well-functioning prosthetic valve with no residual regurgitation and a mean transvalvular gradient of 6 mm Hg (Figures 8A to 8D). CT aortography demonstrated an intact surgical repair with no evidence of suture dehiscence. The graft and prosthetic valve were well positioned and functioning normally. Residual thrombus was noted along the anterolateral and posterolateral aspects of the repaired segment, with no residual dissection flap identified (Figures 9A to 9C). At 5-month follow-up, the patient remained asymptomatic and is recovering well.

Figure 8.

Postoperative Transthoracic Echocardiographic Assessment of Surgical Repair

(A) Two-dimensional transthoracic echocardiography demonstrating a well-seated prosthetic aortic valve with preserved leaflet motion. (B) Color Doppler imaging showing no significant aortic regurgitation across the prosthetic valve. (C) Continuous-wave Doppler interrogation across the aortic valve demonstrating acceptable transvalvular gradients, consistent with normal prosthetic valve function. (D) Parasternal long-axis view demonstrating a stable postoperative aortic root and ascending aortic graft with no evidence of residual aneurysm or paravalvular leak.

Figure 9.

Postoperative CT Aortography Demonstrating Integrity of Surgical Repair

(A) Axial computed tomography (CT) image at the level of the aortic root demonstrating residual mural thrombus along the anterolateral and posterolateral aspects of the repaired aortic root with peripheral calcification; no evidence of suture dehiscence is seen. (B) Sagittal reconstruction confirming stable postoperative anatomy with residual calcified thrombus adjacent to the aortic root and no residual dissection flap. (C) Coronal CT image showing a disease-free descending thoracic aorta, confirming the absence of distal aortic involvement after surgical repair.

Discussion

Marfan syndrome is characterized by progressive aortic root dilatation with a well-established relationship between aortic dimensions and the risks of dissection, rupture, and sudden death.¹ Event rates rise sharply once the aortic root exceeds 50 mm, forming the basis for European Society of Cardiology and American College of Cardiology/American Heart Association recommendations advocating prophylactic aortic root replacement at or before this threshold.² The presence of chronic dissection further magnifies the risk of catastrophic events and lowers operative thresholds, given the markedly increased mortality associated with medically managed chronic type A dissections.³ From a natural history perspective, a chronically dissected aortic root aneurysm exceeding 110 mm would generally be considered incompatible with long-term survival without operative repair.⁴

Against this background, the present case represents an extreme deviation from expected disease behavior. Survival for more than a decade with a progressively enlarging, chronically dissected Marfan aortic root aneurysm constitutes a rare survivorship outlier.⁵ Importantly, the absence of structured surveillance in this patient did not confer protection or stability; instead, it eliminated opportunities for timely elective intervention, allowing the disease to progress unchecked to an advanced and surgically hostile stage. Large cohort studies consistently demonstrate steep risk inflection points, with ascending aortic diameters ≥60 mm in general populations associated with rupture or dissection rates of 3% to 14% per year and substantially lower thresholds in Marfan syndrome.⁶

The principal educational value of this case lies not in surveillance failure but in the clinical and surgical consequences of extreme late presentation. Loss to follow-up permitted progression to severe AR, LV dilatation, systolic dysfunction, and AF—findings consistent with longstanding volume overload and adverse myocardial remodeling.⁷ These morbidities were not inevitable consequences of Marfan syndrome itself but predictable sequelae of advanced, untreated disease.

Advanced late presentation of Marfan aortopathy also poses significant challenges in clinical management before surgery. Chronic severe AR, ventricular dilatation, reduced systolic function, and AF complicate hemodynamic stabilization and increase perioperative risk. Clinical decision-making becomes reactive rather than preventive, focusing on balancing rhythm control, blood pressure optimization, and heart failure management while preparing for high-risk surgical intervention.⁸

In classical Marfan syndrome, aneurysmal disease predominantly involves the aortic root while sparing the tubular ascending aorta, producing the characteristic “onion-bulb” configuration.⁹ This preserved distal anatomy allows secure cannulation and distal anastomosis onto relatively normal tissue, making prophylactic root replacement technically predictable and comparatively safe. In contrast, long-standing, untreated disease in this patient resulted in diffuse aneurysmal involvement extending beyond the root into the ascending aorta, abolishing normal anatomic landmarks and eliminating a safe distal landing zone.

Marfan aortic tissue is intrinsically thin and friable due to fibrillin-1–related structural weakness, predisposing it to dissection and suture-line failure.¹⁰ These challenges are amplified in the presence of healed chronic dissection, where tissue planes are distorted and wall integrity is unpredictable. In such settings, surgical tolerance for error is minimal, and reinforcement of anastomotic suture lines with polytetrafluoroethylene felt becomes essential.

In summary, this case highlights the limitations of surgical and clinical management when Marfan-associated aortic disease presents at an extreme, advanced stage. Delayed intervention converts a technically straightforward prophylactic operation into a complex, high-risk surgical undertaking with preventable morbidity. Early, guideline-directed intervention remains essential to preserve favorable anatomy and ensure safer, more predictable surgical outcomes.

Conclusions

This case illustrates the profound surgical and clinical challenges encountered when Marfan-associated aortic disease presents at an extreme, advanced stage after prolonged absence of care. Long-standing progression resulted in loss of favorable aortic anatomy, diffuse involvement beyond the root, and extreme tissue fragility, converting an otherwise standardized prophylactic operation into a complex, high-risk surgical undertaking. Although survival to this stage was exceptional, delayed intervention led to significant and preventable morbidity, including severe AR, ventricular remodeling, and AF. This rare survivorship reinforces that timely, guideline-directed intervention remains essential to preserve operability and optimize outcomes in Marfan aortopathy.

Ethical Approval

The study was conducted in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its amendments. No patient identity particulars have been disclosed.

Funding Support and Author Disclosures

The authors have reported that they have no relationships relevant to the contents of this paper to disclose.

Appendix

Supplemental Figure 1

Dural Ectasia on Computed Tomography

Sagittal reconstructed computed tomography image of the lumbosacral spine demonstrating posterior vertebral body scalloping (arrow), a characteristic radiologic feature of dural ectasia. The smooth concave remodeling of the posterior vertebral margins reflects chronic cerebrospinal fluid pulsation–related dural expansion and is considered a pathognomonic manifestation of connective tissue disorders, including Marfan syndrome.