A bicuspid valve with double the issues

Feb 18 2020

This morning in clinic I saw a patient with a bicuspid aortic valve who was being followed for mixed aortic valvulopathy, with both moderate aortic stenosis and aortic regurgitation. Although I had seen patients in the past with either aortic stenosis or aortic insufficiency, I had not come across a case where the patient had both types of valvular disease. Before I went into the room, I thought about the questions I would ask to assess the patient's symptomology and what to look for on physical exam.

Patients with bicuspid aortic stenosis and bicuspid aortic regurgitation may remain asymptomatic for prolonged periods of time (1,2). In severe aortic stenosis, the classic symptoms are angina or chest discomfort, syncope, and dyspnea - the latter being associated with a worse prognosis. Severe aortic regurgitation can present with atypical chest pain, palpitations, and dyspnea.

In terms of the physical exam, a functionally normal bicuspid aortic valve produces a ejection click best heart at the left lower sternal border and may be accompanied by a short ejection murmur (1). When valve disease is present, the characteristics of the murmur depend on the severity of disease. With progressive aortic stenosis, the systolic ejection murmur becomes harsher and later peaking. In severe AS, the second heart sound becomes soft, pulsus parvus et tardus (weakened and delayed carotid upstroke) may be palpated, as well as a radial-brachial delay. The murmur of aortic regurgitation is a diastolic decrescendo murmur heard best at the left lower sternal border. When the AR murmur is loudest at the right sternal border, a dilated ascending aorta may be present, which warrants further investigation. With chronic severe AR, a variety of physical findings caused by the wide pulse pressure may be seen. A few examples are (3):

• Corrigan pulse: the rapidly rising and falling arterial pulse with a wide pulse pressure leads to a "water hammer" pulse; felt by palpating the radial or brachial arteries.
• De Musset's sign: a head bob with each heartbeat.
• Quincke's pulses: capillary pulsations in the fingertips or lips.
• Mueller's sign: systolic pulsations of the uvula.

In reading further about mixed aortic valve disease (MAVD), it appears that although current valvular heart disease guidelines provide well-validated parameters for following patients with isolated valvular heart disease, the data on the outcomes and appropriate follow-up of patients with combined stenotic and regurgitant valve lesions is more limited. A study by Egbe et al found there were high rates of adverse events associated with MAVD, comparable to those in severe isolated AS (4). Based on their findings, they recommended patients with severe MAVD be evaluated at least every 6 months. They also found that 50% of the patients became symptomatic and required an aortic valve replacement within 1 year. Thus, patients with MAVD should be considered seriously and monitored carefully.

This case allowed me to review the presentation and features of 2 common valve diseases, as well as learn more about bicuspid aortopathy. During the clinic, I had a stimulating discuss of the case with my preceptor and also had the opportunity to receive some valuable bedside teaching as we examined the patient. Intrigued by the case, I was able to do some further reading at home, helping to consolidate what I learned and also read about some new areas!

-MB-

References:

1. Braverman AC, Silversides C (Ed). Clinical manifestations and diagnosis of bicuspid aortic valve in adults. UpToDate. Accessed February 18, 2020 from: https://www-uptodate-com/clinical-manifestations-and-diagnosis-of-bicuspid-aortic-valve-in-adults
2. Unger P, Pibarot P, Tribouilloy C, et al. Multiple and Mixed Valvular Heart Disease. Circ Cardiovasc Imaging 2018; 11: 1-13.
3. Gaasch WH, Otto CM (Ed). Clinical manifestations and diagnosis of chronic aortic regurgitation in adults. UpToDate. Accessed February 18, 2020 from: https://www-uptodate-com/clinical-manifestations-and-diagnosis-of-chronic-aortic-regurgitation-in-adults
4. Egbe AC, Peterucha JT, Warnes CA. Mixed Aortic Valve Disease: Midterm Outcome and Predictors of Adverse Events. Eur Heart J 2016; 37(34): 2671-2678.