Aneurysms of the sinuses of Valsalva are uncommon in clinical practice. Most are congenital, but secondary causes are also recognized. Congenital aneurysms of the left sinus of Valsalva are particularly rare. The authors report a fatal case in which a nonruptured aneurysm of the left sinus of Valsalva dissected into the interventricular septum and presented as heart failure. The concurrent presence of dilated cardiomyopathy and the mechanisms that may have led to it are discussed on the basis of the anatomic and histologic features found at autopsy.
Case Presentation
A 37-year-old black man, native of Angola, was referred to our hospital for the evaluation and management of an intramyocardial mass and dilated cardiomyopathy. His medical history started 7 years earlier, when he developed progressive exertional dyspnea, orthopnea, and peripheral edema. There was recent worsening of the heart failure symptoms to New York Heart Association class IV, and he had been hospitalized in Angola for the past 3 months before being transferred to our hospital. He was on standard heart failure therapy, including an angiotensin-converting enzyme inhibitor, digoxin, a diuretic, and an aldosterone antagonist.
There was no prior diagnosis of congenital heart disease, chest trauma, or family history of premature cardiovascular death. He denied having had a prolonged febrile illness or invasive vascular procedures in the past, including coronary catheterization.
As part of the initial diagnostic workup, a transthoracic echocardiographic examination was performed ( Figure 1 ), which showed a dilated left ventricle with global hypokinesis and severely impaired systolic function (ejection fraction of 17%). A nonexpandable heterogeneous cystic-like mass with calcified contour was in close proximity to the left sinus of Valsalva and extended through the left ventricular outflow tract to the anterolateral portion of the mitral annulus and into the interventricular septum ( Figures 1 A- 1 C, [CR] ).
Contrast echocardiographic imaging (SonoVue; Bracco Diagnostics, Milan, Italy) was used to assess the perfusion of the mass. There was clear delimitation of the mass from the cardiac chambers, and there was no significant mass perfusion ( [CR] ).
Transesophageal echocardiography ( [CR] ) confirmed that the mass was closely associated with the left sinus of Valsalva. In the interventricular septum, there were small echo-free spaces, but color and pulsed-wave Doppler interrogation revealed no flow between the cystic mass, the aortic root, and the cardiac chambers. There was a central jet of mild aortic regurgitation.
The mass was also evaluated by computed tomography ( Figure 2 A, [CR] ), which revealed a calcified cystic mass with hypodense content in the interventricular septum localized next to the aortic root. There was no density enhancement by intravenous contrast agent.
Coronary angiography was performed to exclude concomitant coronary artery disease. It showed angiographically normal coronaries. Aortography ( Figure 2 B) showed the passage of contrast from the left sinus of Valsalva into the interventricular septum, below the left coronary artery origin, confirming the diagnosis of aneurysm of the left sinus of Valsalva (ALSV). There was negative contrast inside the aneurysm sac, suggesting the presence of a thrombus inside the aneurysm.
To exclude an infectious etiology for the cardiac mass, ova and parasite testing as well as serologic tests for syphilis, toxoplasmosis, leishmaniasis, brucellosis, hydatid cyst, Q fever, cytomegalovirus, human immunodeficiency virus, and hepatitis viruses were done, and all results were negative. Antinuclear antibodies and an autoimmunity panel were also negative.
During the hospital stay, the heart failure progressively worsened, and the patient died of refractory pump failure in the cardiac critical care unit.
An autopsy study was performed to reach a final diagnosis. The macroscopic pathology examination of the heart showed dilatation of the cardiac chambers and increased heart weight (1020 g). The aortic valve was tricuspid, with thickened cusps but otherwise normal morphology. In the left sinus of Valsalva, there was a round opening measuring 16 mm in diameter with rounded, regular margins, which led to a large intramyocardial cavity (36 × 135 mm) extending to the left ventricular outflow tract, interventricular septum, and mitral annulus. This cavity was almost completely filled with an organized, laminated, and calcified thrombus ( Figures 3 A and 3 B). Microscopic examination showed that it was best described as a pseudoaneurysm, as there was no true aneurysm wall, just fibrotic tissue. Myocardial histology showed myocyte hypertrophy and interstitial fibrosis consistent with unspecified dilated cardiomyopathy. The coronary arteries were normal.
