Ruptured Sinus of Valsalva Aneurysm in a Patient With Mixed Connective Tissue Disease: Case Report

Abstract

Sinus of Valsalva aneurysm is a rare cardiac anomaly, affecting approximately 0.09 % of the population. Its rupture represents a life-threatening event that can rapidly lead to heart failure. We report a 32-year-old woman with mixed connective tissue disease presenting with right-sided heart failure. Echocardiography demonstrated a ruptured right coronary cusp sinus of valsalva aneurysm into the right ventricle with moderate aortic regurgitation. Surgical repair was successfully performed, and histopathology supported an autoimmune-mediated etiology. To our knowledge, this is the first reported case of ruptured sinus of valsalva aneurysm occurring in a patient with autoimmune mixed connective tissue disease.

1. Introduction

Sinus of Valsalva aneurysm (SOVA) is a rare cardiac anomaly, with a prevalence of approximately 0.09 % and accounting for 0.1–3.5 % of congenital heart defects [1]. It results from structural weakness at the junction of the aortic media and annulus fibrosus, typically due to elastic lamina disruption [1]. SOVA is classified as congenital or acquired; congenital forms are present at birth and commonly associated with other structural defects such as ventricular septal defects, whereas acquired SOVA develops secondary to conditions that weaken the aortic wall, including infection, trauma, degenerative disease, and systemic inflammatory or autoimmune disorders [2].

Although SOVA has been reported in association with connective tissue disease, most cases involve hereditary disorders such as Marfan or Ehlers–Danlos syndromes, with limited evidence linking autoimmune connective tissue diseases to SOVA rupture. Ruptured SOVA in autoimmune mixed connective tissue disease (MCTD) has not been previously described. Rupture may result in acute left-to-right shunting and right-sided heart failure and is associated with high mortality if untreated [1]. We report what appears to be the first documented case of ruptured SOVA in autoimmune MCTD, emphasizing the importance of early recognition of cardiac involvement in systemic autoimmune conditions.

2. Case illustration

A 32-year-old woman presented with five months of progressive abdominal distension, bilateral leg edema, exertional dyspnea, and orthopnea. She also reported chronic joint pain in the hands and feet, recurrent oral ulcers, alopecia, and primary infertility, without chest pain, palpitations, syncope, or fever. On examination, she was hypotensive (BP 89/33 mmHg). Notable findings included cardiomegaly, a grade 3/6 continuous murmur at the left lower sternal border radiating to the apex, pulmonary rales, ascites, and pitting edema.

Laboratory results showed normocytic anemia (Hb 10.6 g/dL), azotemia (creatinine 3.9 mg/dL, eGFR 18 mL/min/1.73 m²), hyperkalemia (5.2 mmol/L), hypoalbuminemia (3.3 g/dL), and a positive ANA profile. The autoimmune panel revealed anti-Scl-70 and RNP/Sm positivity, consistent with MCTD overlapping with systemic lupus erythematosus (SLE), systemic sclerosis (PSS), and rheumatoid arthritis (RA). Transthoracic echocardiography (TTE) (Fig. 1) showed preserved LVEF 66 % with eccentric hypertrophy, moderate aortic regurgitation, and a ruptured SOVA from the right coronary cusp (RCC) measuring 0.4 cm, forming a left-to-right shunt into the right ventricle (peak gradient 57.7 mmHg). Transesophageal echocardiography (TEE) (Fig. 2) confirmed the rupture with moderate tricuspid regurgitation (PG 45.24 mmHg), suggesting pulmonary hypertension.

Fig. 1. Transthoracic echocardiographic findings of ruptured sinus of Valsalva aneurysm.

(A) Color Doppler shows a continuous turbulent jet from the right coronary cusp (RCC) into the right ventricle (RV), consistent with a left-to-right shunt. (B) Spectral Doppler reveals a peak pressure gradient of 57.7 mmHg, indicating significant hemodynamic impact. (C) Continuous-wave Doppler demonstrates systolic and diastolic shunt flow across the rupture. (D) Parasternal long-axis view shows aneurysmal dilation of the RCC (arrow) with preserved left ventricular systolic function.

Fig. 2. Transesophageal echocardiography (TEE) findings of ruptured sinus of Valsalva aneurysm.

(A) Mid-esophageal short-axis TEE view demonstrates an aneurysm arising from the RCC. (B) Color Doppler TEE shows a continuous high-velocity jet from the RCC to the RV, confirming a left-to-right shunt. (C) Three-dimensional TEE provides en face visualization of the aortic root, clearly delineating the aneurysmal sac. (D) Long-axis TEE view illustrates the rupture tract between the aortic root and RV.

Abdominal ultrasonography showed no intrinsic organ abnormalities but revealed pleural effusion and ascites. The diagnosis was ruptured SOVA secondary to MCTD, leading to refractory right heart failure (NYHA III). Initial management with diuretics, vasodilators, albumin, and electrolyte correction improved symptoms. Right heart catheterization and invasive shunt quantification were not performed due to limited facility availability. The patient underwent successful surgical repair (Fig. 3). Histopathology revealed fibrous connective tissue with lymphocytic and histiocytic infiltration, without malignancy, supporting an autoimmune-mediated etiology. At the six-month follow-up, the patient remained clinically stable, with no recurrence of heart failure symptoms or new cardiovascular involvement. She continued rheumatologic monitoring and immunosuppressive therapy for MCTD, and her functional status improved to NYHA Class I, enabling her to resume normal daily activities.

Fig. 3. Intraoperative findings of ruptured sinus of Valsalva aneurysm.

Left: Direct surgical exposure reveals an aneurysmal sac arising from the right coronary sinus. Right: Intraoperative view following cardiopulmonary bypass demonstrates the rupture site and surgical repair of the sinus of Valsalva aneurysm.

3. Discussion

We report a rare case of a 32-year-old woman with a ruptured SOVA originating from the RCC, accompanied by AR and presenting as refractory right heart failure. Remarkably, she was also newly diagnosed with MCTD, despite long-standing autoimmune symptoms including joint pain, oral ulcers, alopecia, and infertility [3]. SOVA is an uncommon cardiac anomaly characterized by abnormal dilation of the aortic sinus between the valve annulus and sinotubular junction, caused by weakness of the elastic lamina at the aortic-media junction [1]. Approximately 70 % arise from the right coronary sinus [4]. While patients often remain asymptomatic until rupture, this event can cause acute left-to-right shunting and rapid hemodynamic collapse, as seen in this case.

SOVA may be congenital or acquired. Congenital forms are typically associated with other structural cardiac defects, whereas acquired SOVA results from progressive aortic wall weakening due to infection, trauma, degenerative changes, or systemic inflammatory and autoimmune processes [1,4]. In this patient, the absence of congenital cardiac anomalies and the presence of inflammatory histopathological changes support an acquired autoimmune-mediated etiology. Immune-mediated vascular inflammation in MCTD likely contributed to progressive aortic wall degeneration and subsequent rupture [1,5]. Rupture of the RCC into the right ventricle produces a continuous left-to-right shunt, leading to right ventricular volume overload, pulmonary hypertension, and right-sided heart failure.

Diagnosis requires high clinical suspicion, particularly in patients with autoimmune disease and unexplained heart failure. In this case, a continuous murmur along the LLSB and signs of volume overload prompted further evaluation [1,4]. TTE identified the aneurysm with moderate aortic regurgitation, while TEE confirmed rupture from the RCC to RV and demonstrated shunt flow. Histopathology revealed fibrous degeneration with lymphohistiocytic infiltration, supporting an autoimmune etiology. These multimodal findings are critical, as ruptured SOVA can mimic pulmonary hypertension or tricuspid regurgitation [1,4].

While medical therapy can offer temporary stabilization, definitive treatment for ruptured SOVA is surgical repair [4,6,7]. In this patient, diuretics, vasodilators, and albumin infusion provided transient improvement, but she ultimately underwent successful surgical correction. Unruptured SOVA may be conservatively managed with strict blood pressure control, but rupture represents a surgical emergency. According to the 2022 ACC/AHA guidelines, surgery is indicated in all ruptured cases and in unruptured aneurysms with symptoms or rapid expansion [6]. Surgical repair eliminates the aneurysmal sac, restores aortic integrity, and prevents further hemodynamic compromise [4].

Prognosis depends on timely diagnosis and intervention [1,4]. Untreated rupture carries a high risk of cardiogenic shock and multiorgan failure, yet outcomes after surgical correction are excellent, with >90 % success and low mortality rates [8,9]. Our patient recovered well postoperatively, showing marked improvement in right heart function and continued stability on follow-up.

4. Conclusion

This case provides important clinical insight into the cardiovascular complications of autoimmune connective tissue disease, demonstrating how immune-mediated vascular injury can precipitate life-threatening conditions such as ruptured SOVA. It reinforces the value of comprehensive cardiac evaluation in patients presenting with systemic autoimmune manifestations.

Learning objective

SOVA is a rare yet critical cause of heart failure in autoimmune diseases, underscoring the importance of early echocardiographic assessment and timely surgical management.

Abbreviation list

ANA

Antinuclear antibody

AR

Aortic regurgitation

BP

Blood pressure

eGFR

Estimated glomerular filtration rate

LVEF

Left ventricular ejection fraction

MCTD

Mixed connective tissue disease

PSS

Progressive systemic sclerosis

RA

Rheumatoid arthritis

RCC

Right coronary cusp

RV

Right ventricle

SLE

Systemic lupus erythematosus

SOVA

Sinus of Valsalva aneurysm

TEE

Transesophageal echocardiography

TTE

Transthoracic echocardiography