Sinus of Valsalva Aneurysm 

Updated: Jul 15, 2014
Author: Anuradha Tunuguntla, MD, FACC; Chief Editor: Park W Willis IV, MD 

Overview

Background

Sinus of Valsalva aneurysm (SVA) is an uncommon cardiac anomaly that can be congenital or acquired. John Thurnam first described SVA in 1840. Hope further described it in 1939. SVA is usually referred to as a rare congenital anomaly. A congenital SVA is usually clinically silent but may vary from a mild, asymptomatic dilatation detected in routine 2-dimensional echocardiography to symptomatic presentations related to the compression of adjacent structures or intracardiac shunting caused by rupture of the SVA into the right side of the heart.[1] Approximately 65-85% of SVAs originate from the right sinus of Valsalva, while SVAs originating from noncoronary (10-30%) and left sinuses (< 5%) are exceedingly rare.[2]

Pathophysiology

Congenital SVA is caused by a dilation, usually of a single sinus of Valsalva, from a separation between the aortic media and the annulus fibrosus. A deficiency of normal elastic tissue and abnormal development of the bulbus cordis have been associated with the development of SVA.[3] Other disease processes that involve the aortic root (eg, atherosclerotic aneurysms, syphilis, endocarditis, cystic medial necrosis, chest trauma) may also produce SVA, although this usually involves multiple sinuses. Rupture of the dilated sinus may lead to intracardiac shunting when a communication is established with the right atrium (Gerbode defect [10%]) or directly into the right ventricle (60-90%). Cardiac tamponade may occur if the rupture involves the pericardial space.[1]

Epidemiology

Frequency

United States

SVA was present in 0.09% of cadavers in a large autopsy series and ranged to 0.14-0.23% in a Western surgical series.[4] Two-dimensional echocardiography is likely to determine a higher incidence of SVA, although researchers note the incremental value of 3-dimensional echocardiography.[5]

International

SVA is more prevalent in Asian surgical series (0.46-3.5%) and correlates with more supracristal ventricular septal defects (~60%).[6]

Mortality/Morbidity

The true natural history of SVA is unclear. Clinical complications from SVA are often the initial presentation of SVA.

Complications of sinus of Valsalva aneurysm include the following:

  • Sinus of Valsalva aneurysm (SVA), even if asymptomatic, has potential risks of expansion, rupture, cardiac failure, and sudden death.

  • Myocardial infarction (from coronary arterial compression by adjacent unruptured SVA)

  • Complete heart block (from compression of conduction tissues by adjacent unruptured SVA)

  • Right ventricular outflow tract obstruction

  • Infective endocarditis

  • Tamponade if ruptured into the pericardium

  • Rarely, a potential source of cerebrovascular emboli

Associated structural defects in congenital SVAs included supracristal or perimembranous ventricular septal defect (30-60%), bicuspid aortic valve (15-20%) and aortic regurgitation (44-50%). Approximately 10% of patients with Marfan syndrome have some form of SVA. Less commonly observed anomalies include pulmonary stenosis, coarctation, and atrial septal defects.

Rupture of SVA (with progressive heart failure and left-to-right shunting or endocarditis) is the main cause of death and rarely occurs before age 20 years in congenital SVA.

Race

Race differences in SVA are unclear, although a higher frequency was observed in the Asian surgical series.

Sex

Male-to-female ratio is 4:1, including frequencies of both ruptured and unruptured SVA.

Age

Unruptured SVA is usually asymptomatic and is often detected serendipitously by routine 2-dimensional echocardiography, even in patients older than 60 years.

Most ruptured SVAs occur from puberty to age 30 years and are often diagnosed or presented clinically at this age.

A retrospective review of an institutional database identified 86 patients who underwent SVA repair from 1956-2003 found the median age to be 45 years (range 5-80 y).[7]

 

Presentation

History

Approximately 25% of reported cases of sinus of Valsalva aneurysm (SVA) are clinically asymptomatic, unruptured SVA detected by routine 2-dimensional echocardiography. Rupture of the aneurysmal sac may occur spontaneously, precipitated by exertion, trauma, or cardiac catheterization.

A ruptured SVA progresses in 3 stages as described by Blackshear and colleagues, as follows:[8]

  • Acute chest or right upper quadrant pain

  • Subacute dyspnea on exertion or at rest (heart failure syndrome) with progressive or acute onset

  • Progressive cough, dyspnea, edema, and oliguria

Atypically, SVA presents with infective endocarditis, which may originate at the edges of the aneurysm.

Palpitations or syncope may present secondary to obstruction of the left or right ventricular outflow tract.

Dyspnea is by far the most common presenting symptom.

Physical

Unruptured SVA is often asymptomatic and has almost no physical signs. When SVA ruptures, few specific signs of left-to-right shunting may become apparent, and these are often indistinguishable from coronary arteriovenous fistula. Clinical suspicion followed by prompt echocardiographic confirmation is key to diagnosis.

Signs include the following:

  • A loud, superficial, "machine-type" continuous murmur is accentuated in diastole in as many as 40% of patients.

  • A palpable thrill along the right or left lower parasternal border is occasionally noticeable.

  • Bounding pulses are occasionally present.

  • In one series, approximately 44% of the patients had associated aortic regurgitation.[7]

Causes

Primary causes are congenital.

Secondary causes include the following:

  • Atherosclerosis

  • Syphilis

  • Cystic medial necrosis or Marfan syndrome

  • Blunt or penetrating chest injury

  • Infective endocarditis

Associated congenital defects include the following:

  • Ventricular septal defect

  • Aortic insufficiency

  • Coarctation

 

DDx

Diagnostic Considerations

Clinicians should keep in mind sinus of Valsalva aneurysm (SVA) rupture in young patients (especially those with minimal cardiac risk factors) who have signs and symptoms of myocardial ischemia, heart failure, or cardiac conduction defects. Definitive treatment is available, yet the prognosis is poor if rapid diagnosis cannot be made.

Other conditions to consider include chest pain and arrhythmia/syncope. In addition, sinus of Valsalva aneurysm may mimic myocardial infarction or presents with cerebrovascular embolism[9, 10]

Differential Diagnoses

 

Workup

Imaging Studies

Cine magnetic resonance imaging (MRI) is the criterion standard.

Multiplane transesophageal echocardiography (TEE) provides conclusive information regarding SVA and allows precise identification of structural anomalies and shunt locations for perioperative assessment.[3, 8]

Two-dimensional transthoracic echocardiography (TTE) may detect as many as 75% of all patients with SVA.[11, 12] Color-flow Doppler imaging is considered the technique of choice for identifying a ruptured SVA. However, the use of contrast echocardiography is helpful in delineating the aneurysm and shunt arising from rupture. The presence of a left-to-right shunt can be confirmed by demonstrating a negative contrast image in the right-sided cavities. Usually TEE or MRI is needed to confirm the diagnosis and for perioperative assessment. Features of TTE include the following:

  • Generalized single sinus enlargement

  • "Wind-sock" extension of sinus from body and/or apex of otherwise normal aortic sinus when ruptured

  • Detection of associated defects including ventricular septal defect, bicuspid aortic valve, and aortic insufficiency

Three-dimensional TTE is becoming a valuable tool for prompt bedside diagnosis of SVA, especially in ruptured situations. Three-dimensional TEE is useful to determine the precise shape, size, and location of the defect and help guide percutaneous closure device placement.[13]

Electrocardiogram usually presents with sinus tachycardia, although conduction defects may occur.

Procedures

Although rarely necessary, the definitive diagnosis can be confirmed by performing a retrograde thoracic aortography or cardiac catheterization. Left-to-right shunting also can be demonstrated if SVA is ruptured.

 

Treatment

Medical Care

Medical management usually involves stabilization (eg, optimizing medications for heart failure syndrome) and perioperative assessment and management.[8]

Transcatheter closure of ruptured sinus of Valsalva aneurysm (SVA) has been successfully performed using Amplatzer devices.[14, 15, 16] Ruptured SVA have been treated with transcatheter closure to avoid sternotomy and cardiopulmonary bypass in critically ill patients.

Although advanced percutaneous techniques have been performed in the correction of this anomaly, open-heart surgery with or without aortic valve replacement remains the treatment of choice.

Surgical Care

Cardiothoracic surgery consultation is urgent in patients with ruptured SVA, because clinical deterioration can be rapid.

Conventionally, with an operative mortality rate of less than 2%, surgical repair of the ruptured SVA has been the mainstay of therapy. Urgent surgical repair is recommended in all patients with ruptured SVA, especially with intracardiac shunting.[17, 18, 19] Aggressive surgical correction of unruptured SVA is often recommended because of its association with increased morbidity and mortality.[7, 20, 21, 22, 23, 24]

  • Aortic root reconstruction or replacement

  • Aortic valve repair or replacement

  • Bentall procedure (valved conduit)

  • Ventricular septal defect repair (if present)

  • Atrial septal defect repair (if present)

  • Primary suture closures (pledget) and patch closures (if ruptured)

 

Medication

Medication Summary

Surgery is the definitive therapy for sinus of Valsalva aneurysm. Depending on the clinical presentation, perioperative medical management consists of (1) relieving heart failure symptoms, (2) treating arrhythmia if present, and (3) treating endocarditis if present. The reader is encouraged to read corresponding articles for appropriate medication therapy.

 

Follow-up

Prognosis

The prognosis is poor with progressive aneurysmal dilatation or rupture unless early surgical repair is performed.[21]

Actuarial survival rate for patients with congenital SVA is 95% at 20 years, since most SVAs do not rupture prior to age 20 years.

Unruptured SVA has been observed in serial monitoring up to several years after initial diagnosis, but most unruptured SVAs have been found to progress and rupture.

Untreated SVAs may rupture, and patients with ruptured SVAs die of heart failure (with left-to-right shunting) or endocarditis within 1 year after onset of symptoms of ruptured SVA.

In a series of 86 patients who underwent SVA repair, ruptures occurred in 34%. Six (7%) died perioperatively; the actuarial 10-year survival rate was 63%. These patients often required concomitant surgical repair of associated ventricular septal defect, atrial septal defect, and the aortic valve.[7]