Diagnostic Challenges in Pediatric Pulmonary Hypertension

As with any rare disease, a low prevalence in the population is a setup for missed diagnosis. Pulmonary hypertension (PH) can occur at any age during childhood and like in adults, a delay in diagnosis is common.1 Historical outcomes for idiopathic pulmonary arterial hypertension are worse than adults, with a mean survival of 10 months after diagnosis.2 This highlights the need for accurate workup for a potential pediatric PH diagnosis. Generally the evaluation process has paralleled the adult guidelines.34 However, adult guidelines lack evidence-based support in pediatrics.5 Recently the American Heart Association and American Thoracic Society created guidelines for the diagnosis and management of pediatric PH.6 The guidelines offer a diagnostic algorithm needed to verify the diagnosis and work up potential etiologies (Figure 1). They provide the best evidence-based support for the workup and rationale involved. However, the guidelines are still hindered in that the majority of the evidence to support them is Level B (data derived from limited populations)6 (Table 1). This review will discuss some of the diagnostic challenges in pediatric PH.