Paediatric Pulmonary Hypertension: Pathophysiology, Diagnosis, and Emerging Treatments

Introduction

Paediatric pulmonary hypertension (PH) is a rare but life-threatening condition characterized by elevated pulmonary artery pressure and increased pulmonary vascular resistance, ultimately leading to right ventricular failure if untreated. Unlike adults, pediatric PH often occurs secondary to congenital heart defects (CHD), lung disease, or idiopathic causes. Understanding its pathophysiology and timely diagnosis is crucial for improving outcomes.

Pathophysiology

The underlying mechanism involves endothelial dysfunction, vasoconstriction, vascular remodeling, and in severe cases, thrombosis within pulmonary arteries. These changes elevate pulmonary artery pressure and strain the right ventricle. In children, Eisenmenger syndrome remains a classic consequence of unrepaired CHD leading to pulmonary vascular remodeling and irreversible PH.

Clinical Presentation

Symptoms include dyspnea on exertion, syncope, fatigue, and in severe cases, cyanosis and right heart failure. Importantly, early recognition is difficult because symptoms overlap with common respiratory illnesses.

Diagnostic Approach

• Echocardiography: First-line screening to estimate pulmonary artery pressure and assess right heart function.

• Right Heart Catheterization: Gold standard for definitive diagnosis, hemodynamic assessment, and vasoreactivity testing.

• Additional Workup: Includes chest imaging, BNP levels, and genetic testing for heritable forms of PH.

Management Strategies

Current therapy is aimed at reducing pulmonary vascular resistance and improving functional capacity:

• Endothelin Receptor Antagonists (ERAs): Bosentan and ambrisentan improve exercise tolerance and reduce hospitalisations.

• Phosphodiesterase-5 Inhibitors: Sildenafil and tadalafil remain mainstay oral therapies.

• Prostacyclin Analogs: Epoprostenol and treprostinil for severe, refractory cases.

• Supportive Care: Oxygen therapy, diuretics, and anticoagulation in selected cases.Emerging treatments include soluble guanylate cyclase stimulators (riociguat) and gene-targeted therapies.

Prognosis and Future Directions

With early detection and aggressive therapy, survival rates are improving. Ongoing research focuses on pulmonary vascular remodeling inhibitors and precision medicine approaches tailored to pediatric patients.

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