Bicuspid Aortic Valve - Erler Zimmer

Bicuspid Aortic Valve - Erler Zimmer

Clinical History

A 64-year-old woman presented with a 5-month history of chest pain, accompanied by breathlessness and wheezing for 4 months. Upon examination, she displayed dyspnea, expiratory wheeze, left-sided crepitations, and signs of a right pleural effusion. Despite normal pulse rate and blood pressure, a precordial systolic murmur and heaving apex beat were noted. The patient, without peripheral edema, passed away four days after admission.

Pathology

The heart has been opened to reveal the left ventricle and associated valves. The aortic valve exhibits two cusps instead of the usual three, with patchy slight thickening. The aortic origins of the left and right coronary arteries are widely patent, along with the left circumflex coronary artery. Dense pericardial fibrosis and adhesions on the posterior side of the specimen suggest constrictive pericarditis. The cause of pericarditis is not apparent from the history. Autopsy findings include ascites, a small shrunken cirrhotic liver, bilateral pleural effusions (right > left), and right pulmonary collapse. The cause of death is attributed to liver cirrhosis and failure, possibly consequential to the constrictive pericarditis. The bicuspid aortic valve was an incidental finding.

Further Information

Bicuspid aortic valve, a more common congenital anomaly than widely recognized, may remain asymptomatic until later in life. This condition predisposes individuals to calcific aortic stenosis, typically manifesting in the 5th to 7th decades of life. Bicuspid aortic valves may occur alone or as part of a congenital syndrome, such as Tetralogy of Fallot, combining four abnormalities. Unequal cusp sizes, often due to the fusion of two of the three normal cusps, can lead to greater valvular dysfunction. Patients with bicuspid aortic valves are at a heightened risk of aortic dilatation and dissection.
Bicuspid aortic valves are prone to calcification in older age, attributed to abnormal motion and turbulence resulting from unequal leaflet sizes. With advancing age, patients may develop aortic stenosis or aortic regurgitation, leading to symptoms like dyspnea and reduced exercise tolerance. These symptoms may serve as initial signs of bicuspid aortic valve, with diagnosis confirmed through transthoracic echocardiogram.