Exertional Dyspnoea

Clinical Vignette

A 40-year-old man presents with progressive breathlessness and exertional dyspnoea. Please examine his cardiovascular system.

Positive Findings

Peripheral Signs:

  • Collapsing, or “water-hammer” pulse, best felt with the arm raised.
  • Wide Pulse Pressure: high systolic and low diastolic pressures.

Apex Beat:

  • Displaced laterally to the anterior axillary line, hyperdynamic and thrusting.

Aortic Area:

  • High-pitched, early diastolic decrescendo murmur, heard best at the left sternal edge with the patient sitting forward and in expiration.

Eponymous Signs:

  • Corrigan’s Sign: Visible carotid pulsations.
  • De Musset’s Sign: Head nodding with each heartbeat.
  • Quincke’s Sign: Capillary pulsation in the nail beds.
  • Traube’s Sign: Pistol-shot sounds heard over femoral arteries.
  • Austin Flint Murmur: A low-pitched, mid-diastolic murmur at the apex.

Relevant Negative Findings

  • No signs of congestive cardiac failure, such as peripheral oedema, raised JVP, or bibasal crackles.
  • No signs of infective endocarditis, such as splinter haemorrhages or Janeway lesions.

What is the most likely diagnosis?

The most likely diagnosis is severe aortic regurgitation, likely due to a bicuspid aortic valve, given the patient’s age and absence of features of connective tissue disease or rheumatic disease history.

What is your differential diagnosis?

  1. Pulmonary Regurgitation:
  • Similar murmur but best heard at the left upper sternal edge and accentuated by inspiration.
  1. Aortic Root Dilatation or Dissection:
  • Would present with additional symptoms, such as chest pain, and might have an associated diastolic murmur.
  1. Other High-Output States:
  • Anaemia
  • Hyperthyroidism
  • Pregnancy
  • Patent Ductus Arteriosus

How would you investigate this patient?

1. Electrocardiogram (ECG):

  • Likely to show signs of left ventricular hypertrophy (LVH) and possible left axis deviation.
  1. Chest X-ray (CXR):
  • May reveal cardiomegaly due to left ventricular enlargement and a prominent aorta. Signs of pulmonary oedema may indicate heart failure.
  1. Transthoracic Echocardiogram (TTE):
  • Severity Assessment: Regurgitant orifice area, jet width, pressure half-time, and the presence of flow reversal in the descending aorta.
  • Valve Morphology: Determines if the AR is due to a bicuspid or tricuspid valve.
  • Aortic Root and Ascending Aorta Dimensions: Assess for aneurysm or dilatation.
  1. Cardiac Magnetic Resonance Imaging (MRI):
  • Used when echo findings are inconclusive, particularly for quantifying left ventricular volumes and regurgitant fractions.
  1. Cardiac Catheterisation:
  • Pre-surgical assessment for concomitant coronary artery disease and direct assessment of aortic dimensions.

How would you manage this patient?

  1. Medical Management:
  • Regular Monitoring: Annual echocardiograms for asymptomatic patients to assess the progression of AR and left ventricular function.
  • ACE Inhibitors or ARBs: To reduce afterload in chronic AR and delay ventricular dilatation.
  • Beta-blockers: Particularly in patients with Marfan’s syndrome to slow aortic root dilatation. Avoid in severe AR where diastole prolongation may worsen regurgitation.
  • Diuretics: For symptomatic heart failure management
  1. Surgical Management:

Indications for Surgery:

  • Acute Severe AR: Urgent valve replacement for infective endocarditis or aortic dissection.
  • Chronic Severe AR:
  • Symptomatic with NYHA Class II-IV dyspnoea or angina.
  • Asymptomatic patients with:
  • Left ventricular ejection fraction (LVEF) ≤ 50%.
  • Significant left ventricular dilatation (end-diastolic dimension > 7 cm or end-systolic dimension > 5 cm).
  • Undergoing concomitant cardiovascular surgery (e.g., CABG, aortic surgery).

Aortic Root Replacement: For root dilatation, surgical intervention is recommended for:

  • Marfan’s patients with aortic root diameter ≥ 45 mm.
  • Bicuspid valve patients with root diameter ≥ 50 mm.
  • Other patients with root diameter ≥ 55 mm.
  1. Lifestyle and Patient Education:
  • Endocarditis Prophylaxis: Important in patients with prosthetic valves or history of infective endocarditis.
  • Family Screening: Recommended for conditions such as bicuspid aortic valve disease or Marfan syndrome.

Viva Questions

  1. What are common causes of aortic regurgitation?
  • Acute causes include infective endocarditis, aortic dissection, and trauma.
  • Chronic causes include bicuspid aortic valve, ankylosing spondylitis, Marfan syndrome, rheumatic fever, and syphilitic aortitis.
  1. How does a shorter murmur relate to AR severity?
  • In severe AR, the murmur may shorten due to rapid equalisation of aortic and left ventricular diastolic pressures, which decreases the duration of regurgitant flow.
  1. What are the indications for surgery in chronic AR?
  • Symptomatic patients with severe AR, asymptomatic patients with an LVEF ≤ 50%, or left ventricular dilatation on echocardiography. Surgery is also indicated for patients with significant aortic root dilatation.
  1. What is the role of medical therapy in chronic AR?
  • To delay surgery in patients with mild to moderate AR by managing blood pressure and afterload, and to manage symptoms in those who are not surgical candidates.
  1. What are the key investigations to monitor progression in a patient with chronic AR?
  • Regular echocardiography to assess ventricular function, aortic root size, and progression of regurgitation severity.