What is the initial approach to managing a patient presenting with a ventricular septal defect (VSD) murmur?

Initial Management of VSD Murmur

When a patient presents with a VSD murmur, immediately obtain transthoracic echocardiography to assess defect size, location, shunt magnitude, chamber dimensions, ventricular function, and pulmonary artery pressures—this single test determines the entire management pathway. 1

Clinical Assessment Framework

Physical Examination Findings

• Typical presentation: Holosystolic murmur at the 3rd-4th intercostal space with palpable thrill 1, 2
• Small VSDs: May have normal examination except for the murmur 2
• Large VSDs with pulmonary hypertension: Murmur limited to early/midsystole only 2
• Severe pulmonary arterial hypertension: No murmur, single loud S2, cyanosis, and clubbing 1, 2

Signs of Left Ventricular Volume Overload

• Displaced apical impulse 1
• Increased precordial activity 1
• Evidence of congestive heart failure 1

Diagnostic Workup Algorithm

First-Line: Transthoracic Echocardiography (Mandatory)

Echocardiography must assess: 1

• Number, location, and size of defects
• Chamber sizes and left ventricular function
• Presence of aortic valve prolapse and degree of aortic regurgitation
• Right ventricular systolic pressure estimation from tricuspid regurgitation jet
• Qp/Qs ratio to quantify shunt magnitude

Second-Line: Cardiac MRI

• Consider when echocardiographic windows are poor or for complex anatomy 1

Cardiac Catheterization Indications

Perform at an ACHD regional center when: 1

• Assessing operability in patients with VSD and pulmonary arterial hypertension
• Noninvasive data are inconclusive or discrepant with clinical findings

Management Decision Algorithm

Indications for Closure (Surgical or Catheter-Based)

Definite indications: 1, 2

• Qp/Qs ≥2.0 with clinical evidence of LV volume overload
• History of infective endocarditis
• VSD-associated aortic valve prolapse causing progressive aortic regurgitation
• Symptomatic patients with left-to-right shunting who don't have severe pulmonary vascular disease

Reasonable to consider closure: 1

• Qp/Qs >1.5 with pulmonary artery pressure <2/3 systemic AND pulmonary vascular resistance <2/3 systemic
• Qp/Qs >1.5 with LV systolic or diastolic dysfunction

Medical Management for Non-Surgical Candidates

Pharmacologic therapy: 1, 2

• ACE inhibitors: For symptomatic heart failure or significant AV valve regurgitation
• Diuretics (furosemide): For volume management in symptomatic patients
• Beta-blockers: May be considered if dynamic obstruction contributes

Critical Complications Requiring Vigilant Monitoring

Monitor specifically for: 1, 2

• Double-chambered right ventricle
• Discrete subaortic stenosis
• Infective endocarditis: Risk increases 6-fold compared to general population
• Aortic valve prolapse with progressive regurgitation

Follow-Up Strategy

For Unoperated Small VSDs

Annual echocardiography to monitor: 1

• Aortic regurgitation development
• Development of outflow obstruction
• Changes in shunt magnitude

For Complicated or Post-Operative Cases

Annual follow-up at specialized ACHD centers for patients with: 1, 2

• Residual shunts
• Pulmonary hypertension
• Aortic regurgitation
• LV dysfunction
• Outflow tract obstruction

Common Pitfalls to Avoid

• Misdiagnosis: Small VSDs may be mistaken for innocent murmurs 2
• Missed diagnosis: Severe PAH cases may have no murmur at all, leading to delayed recognition 1, 2
• Contraindication to surgery: Avoid surgery in Eisenmenger VSD and when exercise-induced desaturation is present 2
• Overlooking complications: Failure to recognize development of aortic valve prolapse, double-chambered RV, or subaortic stenosis during follow-up 2