Pulmonary Valve Disease

Pulmonic stenosis

Etiology and epidemiology

Virtually all cases of pulmonary valve stenosis are congenital in origin, as the pulmonary valve is the least likely valve to be affected by acquired heart disease.²  Pulmonic stenosis has a prevalence of approximately 1 in 1,800 live births and represents 80-90% of all right ventricular outflow tract obstructions.^2-4

Pathophysiology

Pulmonic stenosis creates obstruction to right ventricular outflow, resulting in elevated right ventricular systolic pressure and compensatory right ventricular hypertrophy. The degree of obstruction determines the severity of hemodynamic consequences.²

Clinical presentation

Symptoms:

Symptoms are unusual in children or adolescents with pulmonary valve stenosis, even when severe.² Depending on the severity, adults may experience:

Category	Mild pulmonic stenosis	Severe pulmonic stenosis
Symptoms	Usually asymptomatic	Dyspnea, fatigue, exertional syncope; cyanosis if PFO present with R→L shunt
Jugular venous pulse	Normal	Elevated with prominent "A" wave
Precordium	No RV lift	RV lift present
Auscultation	Ejection click decreasing with inspiration; soft murmur ending mid-systole	Loud, long murmur; loss of ejection click; wide split S2 with soft/absent P2; right-sided S4
Other findings	None	Signs of right heart failure (late)

Physical examination: The severity of pulmonic stenosis can often be estimated based on physical examination findings.

Classic findings include^2,5:

• Systolic ejection murmur at the left upper sternal border
• Systolic ejection click that varies with respiration (decreases with inspiration)
• Wide splitting of the second heart sound with soft or absent pulmonic component
• Right ventricular heave (in severe cases)
• Signs of right heart failure (in advanced disease)

Diagnostic evaluation

• Echocardiography is the primary diagnostic modality.^1,6 
• Cardiac catheterization may be performed when echocardiographic findings are inconclusive or when intervention is planned.² 

Management

• Medical management: There is no specific medical therapy for pulmonic stenosis. Management focuses on surveillance and timely intervention.²
• Balloon valvuloplasty: Balloon pulmonary valvuloplasty has largely supplanted surgical pulmonary valvotomy as the first-line therapy for isolated valvular pulmonic stenosis.^2,7,8
• Surgical intervention is recommended for certain patients, e.g., those with more severe disease, dysplastic pulmonary valves, or anatomy not suitable for percutaneous treatment. ^1,6 

Natural history and prognosis

Patients with mild native pulmonary valve stenosis have a reassuring natural history, and intervention is not usually necessary. Mild pulmonic stenosis rarely progresses.⁸ Patients with severe pulmonic stenosis typically require intervention in childhood and have a good prognosis into adulthood. Patients with moderate stenosis have a more variable course, with some requiring intervention and others managed conservatively with good long-term outcomes.⁶

Pulmonary regurgitation

Etiology and epidemiology

Pulmonary regurgitation as an isolated congenital lesion is uncommon, occasionally seen with idiopathic dilation of the pulmonary artery or connective tissue disorders. However, pulmonary regurgitation is an almost unavoidable result of either surgical or balloon valvuloplasty for valvular pulmonic stenosis or surgical repair of tetralogy of Fallot.^3,5

Among patients with pulmonic stenosis who underwent surgical valvotomy, 87% developed pulmonary regurgitation on follow-up echocardiography. Pulmonary regurgitation also commonly occurs after successful repair of tetralogy of Fallot, where it represents the most common indication for reoperation late after repair.³

Primary causes:

• Congenital abnormalities
• Rheumatic disease
• Carcinoid syndrome
• Myxomatous degeneration
• Infective endocarditis
• Trauma

Secondary (functional) causes^3,5:

• Post-intervention for pulmonic stenosis or tetralogy of Fallot
• Pulmonary hypertension with annular dilation
• Idiopathic dilated pulmonary trunk
• Marfan syndrome

Pathophysiology

Chronic pulmonary regurgitation causes right ventricular volume overload. The right ventricle initially remodels to accommodate the regurgitant flow, and right ventricular stroke volume increases to maintain effective forward blood flow. Over time, this leads to progressive right ventricular dilation and eventual dysfunction.

Hemodynamic changes include widened pulmonary artery pulse pressure and low pulmonary artery diastolic pressures. As regurgitation increases, right ventricular end-diastolic pressure becomes elevated, and systemic cardiac output is reduced, especially with exercise.^3,5

Clinical presentation

Symptoms:

Pulmonary regurgitation is tolerated well for many years, even decades. However, the chronic effects of long-term volume overload eventually impair right ventricular function. Patients often do not notice symptoms until right ventricular dysfunction is severe.⁹ Symptoms may include:

Category	Findings
Symptoms	Exercise intolerance, dyspnea, fatigue, palpitations (atrial/ventricular arrhythmias), signs of right heart failure
Auscultation	Low-frequency early diastolic murmur at LUSB (often subtle); systolic ejection murmur (residual stenosis or increased stroke volume); absent P2 if prior valvotomy/transannular patch
Precordium	RV heave
Other findings	Elevated JVP, hepatomegaly, peripheral edema, ascites (with RV failure)

Physical examination:

Pulmonary regurgitation is frequently overlooked on physical examination. For example, because the diastolic murmur is soft and short.^5,9

However, findings may include⁵:

• Soft, low-pitched diastolic murmur at the left upper sternal border
• Right ventricular heave
• Increased cardiothoracic ratio on chest radiograph
• Signs of right heart failure

Diagnostic evaluation

Echocardiography provides a qualitative and semi-quantitative assessment of pulmonary regurgitation severity. However, quantitative assessment can be challenging, particularly in the adult congenital heart disease population.³

Cardiac Magnetic Resonance (CMR) is the gold standard for evaluating right ventricular volumes, function, and severity of pulmonary regurgitation.³

Management

Medical management: There is no specific medical therapy for pulmonary regurgitation. Management focuses on:

• Diuretics for symptomatic relief of congestion
• Treatment of arrhythmias
• Surveillance for progression

Pulmonary valve replacement: Pulmonary valve replacement is the definitive treatment for severe pulmonary regurgitation with right ventricular dysfunction.^6,10

Surgical pulmonary valve replacement: Surgical pulmonary valve replacement typically involves removal of the existing transannular patch or conduit and resection of any aneurysmal dilation of the right ventricular outflow tract, followed by replacement with either a bioprosthetic valve or conduit. The procedure can be performed with low surgical risk (1-2%) in experienced centers.^9,11

Transcatheter Pulmonary Valve Replacement (TPVR): TPVR has become a common alternative to surgical replacement in patients with a stenotic or regurgitant conduit or bioprosthetic valve.¹² TPVR is generally recommended for patients with symptoms and right ventricular outflow tract dysfunction. Indications are currently the same as for surgical pulmonary valve replacement.⁶

Natural history and prognosis

The natural history of pulmonary regurgitation depends on its severity and underlying etiology. Mild pulmonary regurgitation may be well-tolerated indefinitely. However, chronic severe pulmonary regurgitation leads to progressive right ventricular dilation and dysfunction over decades.

Studies of patients after repair of pulmonic stenosis show that the rate of symptom development increases markedly after age 40.³

Pulmonary valve replacement can lead to improvement in functional class, substantial decrease or normalization of right ventricular volumes, stabilization of QRS duration, and decreased incidence of atrial and ventricular tachyarrhythmias. However, right ventricular ejection fraction may show little change, particularly if intervention is delayed until severe dysfunction has occurred.^3,11

Conclusion

Pulmonary valve disease encompasses a spectrum from congenital pulmonic stenosis to iatrogenic pulmonary regurgitation following interventions for right ventricular outflow tract obstruction. Early recognition of disease progression and appropriate timing of intervention are essential for optimal long-term outcomes in this growing population of adults with congenital heart disease.¹⁰

References

1. Marchini F, Meossi S, Passarini G, Campo G, Pavasini R. Pulmonary Valve Stenosis: From Diagnosis to Current Management Techniques and Future Prospects. Vascular Health and Risk Management. 2023.

2. Warnes CA, Williams RG, Bashore TM, et al. ACC/AHA 2008 Guidelines for the Management of Adults With Congenital Heart Disease. Journal of the American College of Cardiology. 2008.

3. Bonow RO, Carabello BA, Chatterjee K, et al. 2008 Focused Update Incorporated Into the ACC/AHA 2006 Guidelines for the Management of Patients With Valvular Heart Disease. Journal of the American College of Cardiology. 2008.

4. Bessière F, Waldmann V, Combes N, et al. Ventricular Arrhythmias in Adults With Congenital Heart Disease, Part I: JACC State-of-the-Art Review. Journal of the American College of Cardiology. 2023.

5. Geva T, Wald RM, Bucholz E, et al. Long-Term Management of Right Ventricular Outflow Tract Dysfunction in Repaired Tetralogy of Fallot: A Scientific Statement From the American Heart Association. Circulation. 2024.

6. Stout KK, Daniels CJ, Aboulhosn JA, et al. 2018 AHA/ACC Guideline for the Management of Adults With Congenital Heart Disease. Journal of the American College of Cardiology. 2019.

7. Morray BH, McElhinney DB. Semilunar Valve Interventions for Congenital Heart Disease: JACC State-of-the-Art Review. Journal of the American College of Cardiology. 2021.

8. Feltes TF, Bacha E, Beekman RH, et al. Indications for Cardiac Catheterization and Intervention in Pediatric Cardiac Disease: A Scientific Statement From the American Heart Association. Circulation. 2011.

9. Warnes CA. The Adult With Congenital Heart Disease: Born to Be Bad? Journal of the American College of Cardiology. 2005.

10. Bokma JP, Geva T, Sleeper LA, et al. Improved Outcomes After Pulmonary Valve Replacement in Repaired Tetralogy of Fallot. Journal of the American College of Cardiology. 2023.

11. Lee C, Kim YM, Lee CH, et al. Outcomes of Pulmonary Valve Replacement in 170 Patients With Chronic Pulmonary Regurgitation After Relief of Right Ventricular Outflow Tract Obstruction: Implications for Optimal Timing of Pulmonary Valve Replacement. Journal of the American College of Cardiology. 2012.

12. Armstrong AK, Balzer DT, Cabalka AK, et al. One-Year Follow-Up of the Melody Transcatheter Pulmonary Valve Multicenter Post-Approval Study. JACC: Cardiovascular Interventions. 2014.

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