Hidden behind the mask: misdiagnosis of a ruptured sinus of Valsalva aneurysm in a young male patient—a case report and review of literature

Abstract

Background

Sinus of Valsalva aneurysm is a relatively rare disease accompanied by several severe complications. Patients with an unruptured sinus of Valsalva aneurysm are usually asymptomatic or present with symptoms of dyspnea, easy fatigability, palpitations, or chest pain, whereas a ruptured sinus of Valsalva aneurysm may cause severe symptoms including heart failure, myocardial ischemia, or even cardiac arrest. Misdiagnosis is common in clinical practice owing to the rarity of sinus of Valsalva aneurysm and its highly variable, often atypical clinical presentations, which can mimic more common conditions.

Case presentation

We present a rare and interesting case of a patient with a ruptured sinus of Valsalva aneurysm, a 33-year-old Chinese man who was misdiagnosed owing to a series of atypical symptoms, including eyelid and facial edema and dyspepsia. Fortunately, the patient was finally diagnosed with ruptured sinus of Valsalva aneurysm, and transthoracic echocardiography showed the noncoronary sinus of Valsalva aneurysm, which ruptured into the right atrium, accompanied by cardiac enlargement and pericardial effusion.

Conclusion

This case highlights the importance of obtaining a complete history and a standardized physical examination, and emphasizes the need to consider ruptured sinus of Valsalva aneurysm in young patients presenting with sudden heart failure without a prior cardiac history, and that transthoracic echocardiography is important in providing an accurate and rapid sinus of Valsalva aneurysm diagnosis.

Introduction

Ruptured sinus of Valsalva aneurysm is rare, with an incidence of 0.1–3.5% among all congenital heart defects and a prevalence of 0.09% in the general population [1]. This recognized clinical condition has a higher incidence in Eastern than Western populations [2]. Sinus of Valsalva aneurysms (SVAs) may be congenital or acquired and are characterized by expansion of the wall of the aortic root between the aortic valve annulus and the sinotubular junction [3]. In addition, SVAs can be clinically divided into ruptured or unruptured. Unruptured SVAs are usually clinically silent and found incidentally during routine transthoracic echocardiography (TTE) [4]. Symptoms occur in 80% of patients with ruptured SVAs, most commonly between 30 and 45 years of age [5]. Smaller ruptures tend to have slower symptoms, and the size of the shunt, presence of other comorbidities, and age of onset can all contribute to atypical clinical symptoms. However, it can be catastrophic, accompanied by sudden and significant hemodynamic effects, acute chest pain and dyspnea, or even cardiac arrest [6, 7]. In short, patients with SVAs often present variable and atypical symptoms, leading to frequent misdiagnoses owing to their clinical overlap with more common conditions.

The typical clinical sign of SVA rupture is an audible heart murmur in the precordial region. It usually presents as a continuous heart murmur between the third and fourth ribs along the left sternal border and may be accompanied by a grade 3 or higher thrill [8, 9]. The symptoms of SVA rupture depend on the rate and size of the rupture and the location of the specific cardiac chamber penetrated. Aneurysms may originate in the right coronary sinus (65–85%), the noncoronary sinus (10–30%), and, rarely, the left coronary sinus (1–5%) [5, 10]. SVA rupture can penetrate any cardiac cavity, primarily the right ventricle and right atrium [3]. When the right heart chambers rupture, blood flows along a pressure gradient from the aorta into the right ventricle. The hemodynamic outcome is comparable to that of an unclosed arterial duct. The blood flow in the arterial duct increases the pulmonary circulation and increases the load on the right ventricle, leading to right ventricular enlargement, pulmonary hypertension, and eventually right heart failure. When ruptured into the right atrium, it obstructs blood return to the upper and lower vena cava, eventually leading to right heart failure [11].

Herein, we report a case of meaningful noncoronary SVA ruptured into the right atrium, which was misdiagnosed because of a series of atypical clinical symptoms. Moreover, we summarize the atypical cardiac and noncardiac symptoms associated with SVAs in patients at their initial visit. We also put forward several points on how to avoid the misdiagnosis of SVAs, aiming to provide a reference for the rapid and accurate diagnosis of this rare disease. Otherwise, we are the first to report the discovery of nonspecific eczematous lesions on the skin of patients with SVAs. Dermatologists should also pay attention to the diagnosis of SVAs when receiving such patients.

Case presentation

A young 33-year-old Chinese male, who was previously healthy, presented to our emergency department with chest tightness and suffocation with orthopnea. Physical examination revealed that he had bilateral cardiac enlargement and a palpable thrill in the precordial region. In addition, a continuous murmur was auscultated at the patient’s left third intercostal space. Transthoracic echocardiography revealed that the noncoronary SVA was locally aneurysmal to the right atrium, measuring approximately 24 mm × 27 mm, with an inner diameter of 6 mm. Multiple ruptures were seen at the top, as well as enlargement of the heart and the pericardial effusion. The patient was diagnosed with a ruptured sinus of Valsalva aneurysm (RSOVA).

However, the patient reported that his symptoms were less severe 3 months ago. Asking the patient about his medical history revealed that he had first developed eyelid and facial edema 3 months ago due to strenuous exercise after drinking alcohol. Reviewing his medical history at another hospital, the patient had a negative cardiopulmonary physical examination and was diagnosed at another institution with proteinuria and hyperuricemia on the basis of relevant laboratory tests. The patient’s symptoms did not improve after a period of diuretics and urate-lowering therapy, and subsequently worsened with generalized edema, chest tightness, abdominal distension, and elevated creatinine. After several unsuccessful visits, the patient was then transferred to our center for further treatment.

After admission, we performed a systematic examination and evaluation of the patient’s condition. The patient’s heart was significantly enlarged bilaterally, with distant heart sounds, palpable thrill in the precordial region, a double-phase continuous murmur that could be heard in the third intercostal space at the left edge of the sternum, wet rales covering the middle and lower fields of both lungs, and sunken edema in both lower extremities. The electrocardiogram (ECG) showed: heart rate (HR) 86 beats/minute, sinus rhythm, incomplete right bundle branch block (RBBB), and mild ST-T segment changes. In addition, we found an interesting phenomenon in which the patient complained of a bilateral rash on the flanks, with significant itching since the onset of the disease. Physical examination revealed edematous erythema with a little scaling on the bilateral flank area (Fig. 1A). A preliminary diagnosis of atopic dermatitis was made. We evaluated the patient preoperatively by transesophageal echocardiography (TEE), and the results showed that the noncoronary sinus was ruptured into the right atrium. Color Doppler demonstrated flow through the fistula, causing a left-to-right shunt (Fig. 2). A large pericardial effusion was also present, but there was no evidence of tamponade at the time. The blood test results were as follows: N-terminal pro-B-type natriuretic peptide (NT-ProBNP), 1224 Pg/ml; total bilirubin (TBil), 33.1 umol/L; direct bilirubin (DBil), 22.4 umol/L; prothrombin time, 16 seconds; and prothrombin time-international normalized ratio (PT-INR), 1.26. These results suggested that the patient had heart failure and hepatorenal syndrome, requiring urgent surgery. The patient underwent surgical repair of RSOVA under extracorporeal circulation and was successfully discharged after surgery. The patient was followed-up at 1 month and 6 months after surgery in the outpatient clinic and is recovering well without abnormalities (Table 1). The skin on both sides of the patient’s flanks had largely returned to normal without any treatment after 6 months (Fig. 1B).

Fig. 1

Skin condition. Since the onset, the patient has experienced edema and erythema with a small amount of scales on both sides of the ribs, accompanied by itching; the symptomatic treatment effect for the rash has been poor. A Photo taken before anesthesia. No treatment was administered for the skin rash after the operation, and the patient’s skin returned to normal after 6 months (B)

Fig. 2

A Two-dimensional (2D) imaging mode (left) and color Doppler imaging mode (right) showing a rupture of the noncoronary sinus of Valsalva aneurysm into the right atrium. The orange circle highlights the aneurysmal dilation of the noncoronary sinus. Color Doppler imaging demonstrates flow through the fistula, causing a leftto- right shunt. The predominantly blue coloration within the aneurysm represents blood mixing and flow dynamics. The rupture gap in the sinus of Valsalva aneurysm allows blood to enter the right atrium, visualized as red turbulent flow on color Doppler imaging. B Two-dimensional imaging showing the measured size of the rupture in the noncoronary sinus aneurysm, which is 0.7 cm × 0.8 cm

Table 1 Laboratory data^*

Discussion

SVAs are rare cardiac anomalies with nonspecific clinical presentations, which vary depending on their location, size, and rupture status. Unruptured SVAs are typically asymptomatic unless they are large enough to compress adjacent structures, potentially causing conduction abnormalities (e.g., complete heart block), myocardial ischemia from coronary artery compression, thromboembolism, or right ventricular outflow tract obstruction leading to acute right heart failure [12, 13]. The most frequent complication of SVA is rupture. Symptoms vary according to the affected chamber and its size. Ruptured SVAs may present with aortic regurgitation, outflow tract obstruction, arrhythmias, myocardial ischemia, heart failure, thrombosis, stroke, or endocarditis. Rupture may also result in an aorto-cardiac shunt with symptoms of fatigue, chest pain, dyspnea, or heart failure [12]. Transthoracic echocardiography (TTE) is often the initial diagnostic tool for SVAs, which appear as saccular outpouchings originating from one of the aortic sinuses, typically above the aortic valve annulus. In ruptured cases, TTE reveals continuous blood flow during systole and diastole, commonly directed into the right atrium or right ventricle. TEE is considered the gold standard for detailed anatomical assessment, particularly in identifying shunts and associated cardiac abnormalities. Advanced imaging modalities such as CT and magnetic resonance imaging (MRI) can provide additional clarity, especially in visualizing aneurysmal extension, shunt pathways, or compression effects on adjacent structures [14]. These imaging techniques collectively play a critical role in diagnosing SVAs and guiding management strategies.

Here we briefly summarize the atypical cardiac and noncardiac symptoms associated with SVAs, offering guidance to primary care physicians for the timely identification of SVAs in similar cases. A summary of reported cases of SVAs with atypical symptoms is presented in Table 2. The table illustrates the wide spectrum of atypical cardiac and noncardiac symptoms that may arise owing to SVAs, highlighting their potential to present as diverse clinical conditions. Cardiac symptoms, such as acute coronary syndromes, complete heart block, and cardiogenic shock, underscore the possibility that these critical manifestations may stem from the hemodynamic and structural effects of an underlying SVA. Similarly, noncardiac symptoms, including acute liver failure, idiopathic pericardial effusion, and unusual signs, such as eyelid and facial edema (as noted in the present case), suggest that systemic or localized effects of a ruptured or unruptured SVA can mimic noncardiovascular disorders. Moreover, the exact prevalence of these atypical symptoms is unclear owing to the rarity of SVAs and their varied clinical presentations. These findings emphasize the need for clinicians to consider SVAs in the differential diagnosis when encountering such presentations, ensuring timely identification and management to improve patient outcomes. This summary serves as an important reminder of the atypical ways in which SVAs can manifest, bridging the gap between systemic and cardiovascular perspectives.

Table 2 Atypical cardiac and noncardiac symptoms associated with SVAs at initial visiting

Our patient was a previously healthy young male whose clinical history can be divided into two phases: out-of-hospital and in-hospital. Initially, he experienced a sudden increase in intrathoracic pressure following strenuous exercise after consuming alcohol. This event likely triggered the rupture of the noncoronary sinus into the right atrium, causing a rapid rise in central venous pressure and subsequent symptoms of heart failure, including chest tightness, difficulty breathing, and liver and kidney dysfunction. During his first outpatient visit, the patient’s clinical presentation was nonspecific. The initial clinician missed key indicators of RSOVA, such as a continuous mechanical murmur in the precordial region, and instead focused on other diagnoses, including proteinuria, hyperuricemia, dyspepsia, and pleural effusion. This misdiagnosis delayed appropriate intervention. As the disease progressed, the patient’s symptoms worsened significantly, which posed a serious risk. Upon admission to our hospital, he exhibited clear signs of acute right heart failure, including hepatic and renal impairment. Liver failure was particularly evident, marked by persistently elevated transaminase and total bilirubin levels, as well as impaired coagulation indicated by an abnormal prothrombin time and INR. Following surgical repair of the ruptured sinus of Valsalva aneurysm, these symptoms gradually resolved. The patient’s liver and renal functions improved, and no significant complications were observed postoperatively.

In addition, an interesting phenomenon is that after the onset of the disease, the patient gradually developed eczema-like skin changes, accompanied by the expansion of the area and the aggravation of itching symptoms. At first, the patient did not pay extra attention to this symptom, but our colleagues noticed this phenomenon. A diagnosis was provided by a dermatologist, which suggested that the patient may have had atopic dermatitis (AD), also known as atopic eczema. According to the follow-up of the patient 6 months after discharge, we found that the patient’s skin symptoms improved significantly without any intervention, suggesting a potential link between skin condition and cardiovascular disease. This may be because heart failure (HF) can contribute to the development or exacerbation of AD through systemic inflammation, immune dysregulation, and compromised skin barrier function. HF is characterized by elevated proinflammatory cytokines such as TNF-α and IL-6, which disrupt immune homeostasis and exacerbate Th2-mediated inflammation, a hallmark of AD [15, 16]. Endothelial dysfunction and poor microvascular circulation in HF impair skin perfusion, weakening the skin barrier and increasing susceptibility to allergens and irritants [17]. Furthermore, HF-associated fluid retention and skin edema exacerbate barrier dysfunction, promoting inflammation and pruritus [18]. These shared mechanisms create a bidirectional relationship between HF and AD, where systemic inflammation and vascular impairment from HF amplify the inflammatory pathways central to AD. In addition, there is substantial clinical evidence supporting an association between AD and cardiovascular diseases (CVDs). Cross-sectional studies have revealed that CVDs are more prevalent in patients with AD [19]. A recent study on the relationship between AD and HF identified AD as an independent risk factor for HF, with a hazard ratio (HR) of 1.46 (95% confidence interval (CI) 1.10–1.93) [20]. The positive association was further supported by a large cohort study, which reported that patients with AD experienced a higher risk of HF (HR 1.19; 99% CI 1.09, 1.30), independent of common cardiovascular risk factors [15]. Since we are the first to report the presence of AD in patients with SVAs, the association between the two deserves further investigation. Therefore, we propose that in patients with severe AD, relevant cardiovascular evaluations should be considered to rule out underlying CVDs. This is an interesting phenomenon, and it is worth considering the temporal relationship between the two coexisting conditions since they may not have occurred simultaneously.

Considering that the age distribution of RSOVA is much younger than that of heart failure, RSOVA should also be suspected in young patients presenting with new-onset heart failure [9, 21]. It is therefore important to develop a strategy for the early recognition of aortic sinus aneurysm rupture. The following clinical signs may assist in the diagnosis of patients with SVAs: (1) clinical signs of new-onset heart failure in young patients with no previous history of heart disease; (2) a continuous mechanical heart murmur; (3) sudden onset of chest pain or epigastric pain and dyspnea after strenuous exercise, followed by palpitations, shortness of breath, and syncope, which may rapidly deteriorate to heart failure; (4) patients with slow progression of the disease course who present with edema, abdominal distension, shortness of breath after exertion, palpitations, weakness and other symptoms that gradually worsen. Symptoms can last for weeks, months, or years from the remission period and then present as symptoms of right heart failure. In a word, the possibility of SVA rupture should be considered in patients with these clinical signs. Echocardiography is the preferred initial diagnostic tool because of the aneurysmal appearance of the involved sinus and the presence of a “windsock,” which is often seen to protrude into the receiving chamber [22].

Misdiagnosis is unfortunate but serves as a valuable learning opportunity for medical staff. In this case, the patient presented with an “aortic-right atrial” biphasic shunt, a loud biphasic murmur with a thrill in the precordial region, and progressive dyspnea and orthopnea—clear signs of cardiac disease. However, these were initially overlooked, leading to misdiagnosis and mistreatment.

In conclusion, ruptured aortic sinus aneurysms are rare and often present with nonspecific symptoms, making them challenging to diagnose. This case emphasizes the importance of thorough diagnostic evaluations, including echocardiography, to ensure timely and accurate diagnosis, offering important lessons for future practice.

Learning points

• Recognizing atypical symptoms in ruptured aortic sinus aneurysms (SVAs). Misdiagnosis of SVAs due to atypical presentations, such as gradual onset of edema, abdominal distension, and chronic right heart failure symptoms, emphasizes the need for thorough clinical evaluation. Sudden onset of chest or epigastric pain, dyspnea, and syncope should prompt urgent echocardiography, especially in young patients.

• First reported association between SVAs and atopic dermatitis (AD). This case is the first to identify AD in a patient with SVAs, suggesting a potential link between AD and cardiovascular diseases. Patients with severe AD should consider cardiovascular evaluations to identify possible underlying conditions.

• Imaging as a diagnostic cornerstone. Bedside transthoracic echocardiography (TTE) is essential for suspected cardiac conditions, while transesophageal echocardiography (TEE) provides detailed insights into the pathophysiological features of ruptured SVAs, guiding intraoperative decision-making.