Sinus of valsalva aneurysm with fistula to the right atrium presented as acute heart failure in a young man

Background

Sinus of valsalva aneurysm (SVA) is a rare cardiac anomaly, occurring in between 0.09% and 0.15% of cases, and accounts for up to 3.5% of all congenital cardiac anomalies [1,2]. It may be congenital or acquired; a coexisting cardiac lesion might be present [1]. Rupture of the aneurysm, where it usually occurs in the right ventricle, can cause acute symptoms of heart failure [3]. Echocardiography (transthoracic, TTE and, more accurately, transesophageal TEE) can provide all necessary diagnostic data for safe surgical treatment [4]. However, preoperative catheterization and routine aortic angiography may still be necessary to confirm the diagnosis and identify associated conditions [5]. Treatment of choice is surgery, with low operative risk and good long-term survival [3].

Case Report

A 23-year-old male, previously healthy, presented to the emergency room (ER) with shortness of breath for the last 10 hours after lifting a heavy object. The patient had central chest pain, palpitation, nausea, and vomiting. On examination, his blood pressure (Bp) was 115/55 mmHg, heart rate (HR) was 125–150 bpm, and respiratory rate was 25/min. Pulse oximeter measured an oxygen (O2) saturation of 88%. Chest X-ray showed congestion of both lung fields (Figure 1), with normal heart size. Electrocardiogram (ECG) (Figure 2) showed left ventricular (LV) strain and ST depression in lateral leads. Serum troponin was positive. A provisional diagnosis of acute myocardial infarction (MI) was made. However, a diastolic murmur was heard with difficulty because of the rapid heart rate. TTE was not conclusive, but it showed grade I mitral valve regurgitation (MR), grade II aortic valve regurgitation (AR), and a pulmonary artery pressure (PAP) of 70 mmHg. TEE showed acute AR grade III–IV, possible a ruptured non-coronary cusp with fistula formation to the right atrium (Figure 3) and possible type A aortic dissection starting at the non-coronary sinus. These findings were confirmed in the operating room. Surgery included a composite mechanical graft and repair of the right atrium.

The patient’s father died, unexpectedly, at the age of 43 years, which suggested ischemic heart disease (no autopsy).

Discussion

Sinus of valsalva Aneurysm (SVA) is an exceedingly rare congenital or acquired degeneration of connective tissue, and is due to either atherosclerosis, infection, or trauma [6,7] resulting in detachment of the media of the aortic wall at the aortic annulus and subsequent dilation of 1 of the 3 aortic sinuses: most commonly the right sinus in 94% of the cases and rarely in the other 2 sinuses (non-coronary in 5%, and left in 1%) [8,9].

Unruptured SVAs are usually clinically silent and found incidentally during routine TTE [10]. About half are associated with AR (10). Occasionally, the physical presence of SVA can precipitate arrhythmias, obstruct a coronary artery resulting in myocardial ischemia, or disrupt normal hemodynamics [11].

Symptoms occur in 80% of patients, most commonly between 30 and 45 years of age [11]. In 35% of cases, undiagnosed SVA ruptures lead to acute symptoms in one fourth of the patients [12]. Symptoms associated with rupture are shortness of breath, chest pain, and fatigue [13,14]. The size of the shunt, the presence of other lesions, and age at presentation determine the severity of symptoms [9].

In order of frequency, the aneurysm usually ruptures into the right ventricle (60%), the right atrium (29%), and, less frequently, either into the left atrium (6%) or left ventricle (4%). Rupture into the pericardial cavity is exceptional (1%) [15].

Initially, invasive angiography was considered the gold standard for diagnosing this disease. TTE and /or TEE have emerged as preferred modalities because they provide a quick and noninvasive method that can delineate the size and location of aneurysmal dilatations, the presence of fistulous tract, the presence or absence of cardiac chamber involvement, the degree of aortic valve insufficiency, and can identify any associated anomaly or complication.

The mean survival in patients with untreated ruptured SVA is about 4 years [16]. The most used surgical technique is the ‘dual exposure technique’, wherein both the aorta and the chamber of termination are explored. The aneurysmal sac is excised and the resultant defect is repaired either by direct suturing or patch closure. Coexisting lesions are repaired within the same surgical procedure. Today, the 10-year survival rate after surgical repair of a ruptured SVA is 90% [17]. However, aortic regurgitation might occur after surgical repair [2,16].

Conclusions

This case report highlights the superiority of TEE over TTE in diagnosis and planing adequate surgical treatment for patients with ruptured SVA, as well as the importance of ultra-sonographer experience in the diagnosis. The optimal management for a ruptured SVA is surgical repair, with an acceptably low operative risk and good long-term outcome. However, the best therapy for an asymptomatic and unruptured SVA is currently not clear. The report also highlights the importance of proper physical examination for patients who present with acute chest pains.