A sinus of Valsalva aneurysm is a rare, usually congenital disorder. It is less commonly associated with endocarditis, atherosclerosis, trauma, syphilis or aortic dissection.1,2 Since it was first reported in the mid-1800s, sinus of Valsalva aneurysm has been described in multiple isolated cases. The estimated prevalence is less than 1% in patients who undergo open heart surgical procedures.3 Sinus of Valsalva aneurysms may be asymptomatic, or they may present with angina or with symptoms of valvular insufficiency or outflow obstruction. Once ruptured, sinus of Valsalva aneurysm may produce serious hemodynamic instability, such as acute heart failure or sudden death.4 When rupture is suspected, immediate diagnosis should be pursued with transesophageal echocardiography or cardiac catheterization.
We report a case of a young woman with severe heart failure and aortic insufficiency and a ruptured sinus of Valsalva aneurysm.
A 31-year-old black woman, mother of 6-month-old twins, reported to our clinic for a routine checkup and with complaints of a mild eye irritation. This was her first visit since her delivery, and on exam she had elevated blood pressure, mild respiratory rales and a cardiac murmur. We recommended and scheduled an echocardiogram, but she did not appear for her appointment. Nearly a month later, she returned to the clinic to follow up on her blood pressure. During this visit, her exam showed a worsening of the cardiac murmur, and she had developed hepatomegaly and ascites. A second echocardiogram was scheduled, but the patient had difficulties keeping the appointment due to transportation. A decision was made to send our mobile ultrasound unit to her home.
What is the most likely diagnosis?
Atrial septal defect is associated with a systolic ejection murmur, most prominent over the second or third intercostal space at the left sternal border, and a fixed split S2. The murmur is created by increased blood flow through the main pulmonary artery and not by left-to-right shunting across the defect.
Ventricular septal defect is associated with a holosystolic murmur heard best along the left lower sternal border. The murmur is due to left-to-right shunting across the defect.
Coarctation of the aorta may be associated with a continuous murmur thought to be caused by increased blood flow through the intercostal vessels. Aortic regurgitation may accompany coarctation if a bicuspid aortic valve is present. However, coarctation is not associated with left-to-right shunting.
Ruptured sinus of Valsalva aneurysm is the correct diagnosis. The echocardiogram (see figure) revealed a cystic structure above the right coronary artery. It was obstructing blood flow, causing dilatation of the inferior vena cava and ascites.
At this time, she acknowledged experiencing progressive shortness of breath for the prior 6 months. She was immediately referred to the emergency department, where a second transthoracic echocardiogram (TTE), as well as a transesophageal echocardiogram (TEE), were performed. The studies revealed a 3x3-cm sinus of Valsalva aneurysm off the right coronary artery into the right atrium. It had ruptured the tricuspid valve. The right ventricle was dilated and hypokinetic. The left ventricle had an ejection fraction of approximately 55%, and she had developed left ventricular hypertrophy.
The patient was admitted to the hospital and referred for urgent surgery and blood pressure control. She was placed on metoprolol for tachycardia, her blood pressure was stabilized and controlled, and she was diuresed about 10 pounds. The following morning, she underwent resection of the sinus of Valsalva aneurysm with a Dacron patch placed. The sinus of Valsalva aneurysm was oversewn, and a portion could be seen in the right atrium. But there was certainly no flow in the sinus of Valsalva after the surgery. A postoperative echocardiogram showed an ejection fraction of the left ventricle of about 20%, with global severe hypokineses with concentric left ventricular hypertrophy. The right ventricular size had improved with normal regurgitation. No significant aortic regurgitation or aortic dissection was present. She was later discharged with prescriptions for lisinopril, furosemide and metoprolol. She was fit with a wearable defibrillator to wear until her heart recovered.
A ruptured aneurysm of an aortic sinus is a major cardiovascular event that demands prompt diagnosis and treatment. Given the relative infrequency of the condition,3,5 achieving a definitive diagnosis can be challenging.
Most aortic sinus of Valsalva aneurysms are congenital or are associated with an infectious process such as endocarditis or syphilis. Men are more often affected than women (3:1 ratio),3,6 and the prevalence is higher in Eastern than in Western populations.5 Patients are usually diagnosed in the third or fourth decade of life, when rupture occurs and symptoms develop.6
In our case, the patient presented at 31 years of age with vague symptoms of shortness of breath and hypertension. Her murmur was incidentally found and subsequently led to the correct diagnosis.
The right sinus of Valsalva is the most common site of aortic sinus aneurysmal dilatation, followed by the noncoronary sinus. After rupture, a fistulous tract forms, frequently with the right ventricle in the former instance and with the right atrium in the latter.3,5
Rupture into the pulmonary artery may occur, but it is not common.7 Aortic regurgitation is present in 18% to 44% of cases,3,5 and in some patients this is caused solely by a hemodynamic effect (Bernoulli effect) associated with the blood flow shunt.8
Our patient had a right coronary sinus of Valsalva aneurysm and a fistula in the right atrium. At presentation, she displayed congestive heart failure symptoms with subacute worsening.
A diagnosis of aortic sinus aneurysm and fistula can be confirmed by echocardiography (TTE or TEE) or by cardiac catheterization (right and left). TEE can lead to an accurate diagnosis in virtually all of patients,9 and TEE may be useful when TTE is inconclusive. Moreover, TEE may be very helpful for better anatomic definition during preoperative evaluation.10 Direct visualization of the aneurysmal dilatation and fistulous tract by cardiac catheterization, as well as the measurement of oxygen saturation in different cardiac chambers and the great vessels, can yield a specific diagnosis.
The natural history of asymptomatic aneurysm of an aortic sinus is unclear, and variant cases - with rapid clinical deterioration or many years of stabilization - have been described.3,11 However, once symptoms develop or rupture occurs, urgent intervention is recommended. Open-heart correction of the aneurysm and fistula, with or without aortic valve replacement, carries a low operative risk and traditionally has been the treatment of choice.3,5 More recently, novel percutaneous closure techniques have brought hope of a less invasive method to correct such a condition.1
This asymptomatic patient had a cardiac murmur and hepatomegaly with ascites. The diagnosis of a mass consistent with a hydatiform cyst in the right heart was initially suggested by echocardiography; however, more detailed studies ultimately led to a final diagnosis of a ruptured sinus of Valsalva. Her condition was managed with urgency and she was successfully treated with surgical intervention. On her return visit to our office, she reported great improvement of her condition as compared to her initial visit. Her shortness of breath had significantly improved, and on exam her heart murmur could no longer be auscultated. Her ascites had resolved, and she had a considerable weight loss and overall improvement. At the time of her last visit, she was enjoying a normal life with her twins.
1. Ikenaga S, et al. Acceleration of aortic regurgitation due to localized aortic dissection; report of a case [in Japanese]. Kyobu Geka. 2004;57(5):388-390.
2. Zhao G, et al. Diagnosis and surgical treatment of ruptured aneurysm in sinus of Valsalva. Chin Med J (in English). 2003;116(7):1047-1050.
3. Takach TJ, et al. Sinus of Valsalva aneurysm or fistula: management and outcome. Ann Thorac Surg. 1999;68(5):1573-1577.
4. Islam MN, et al. Ruptured aneurysm of the sinus of Valsalva. Bangladesh Med Res Counc Bull. 1996;22(1):19-26.
5. Dong C, et al. Ruptured sinus of Valsalva aneurysm: a Beijing experience. Ann Thorac Surg. 2002;74(5):1621-1624.
6. Friedman WF, Silverman N. In: Braunwald E, et al, eds. Heart Disease: A Textbook of Cardiovascular Medicine. 6th ed. Philadelphia: Saunders; 2001: 1540.
7. Luckraz H, et al. Repair of a sinus of Valsalva aneurysm that had ruptured into the pulmonary artery. J Thorac Cardiovasc Surg. 2004;127(6):1823-1825.
8. Maruo A, et al. Ruptured sinus of Valsalva aneurysm associated with aortic regurgitation caused by hemodynamic effect solely. Eur J Cardiothorac Surg. 2003;24(2):318-319.
9. Shah RP, et al. A ten-year review of ruptured sinus of Valsalva: clinico-pathological and echoDoppler features. Singapore Med J. 2001;42(10):473-476.
10. Garrido Martin A, et al. Multiplane transesophageal echocardiography in the preoperative evaluation of the sinus of Valsalva fistula to right chambers [in Spanish]. Rev Esp Cardiol. 2002;55(1):29-36.
11. Martin LW, et al. Congenital aneurysm of the left sinus of Valsalva. Report of a patient with 19-year survival without surgery. Chest. 1986;90(1):143-145.
12. Fedson S, et al. Percutaneous closure of a ruptured sinus of Valsalva aneurysm using the Amplatzer Duct Occluder. Catheter Cardiovasc Interv. 2003;58(3):406-411.
Sekhar Iyer is a certified physician assistant at Mi Doctor Family Medicine in Dallas. He is an ECFMG certified physician from India, currently awaiting his residency training in the United States. Muzafar Mehdi is a family practice physician at Mi Doctor. Silvio Azolini is the medical director at Mi Doctor. Ashleigh Westfall is a student in the University of Texas Southwestern physician assistant program. At the time of this encounter, she was rotating at Mi Doctor under the supervision of Sekhar Iyer.