Journal of Rare Cardiovascular Diseases

Pulmonary arterial hypertension is a rare disease of pulmonary circulation with poor prognosis if left untreated or diagnosed with delay. Active screening for the disease is not effective in the general population. However, in populations at increased risk for pulmonary arterial hypertension, all efforts should be taken to establish an early diagnosis. Here, we present 2 cases of late diagnosis. The first patient presented with a clear clinical picture, while the second case describes a patient in the at‐risk population who received treatment too late to obtain satisfactory results. We discuss the pitfalls which led to delayed diagnosis that finally resulted in treatment failure. JRCD 2019; 4 (3): 47-50.

rare disease, electrocardiography, echocardiography, cardiac catheterization, pulmonary functional test, specific therapy

Gaine SP, Rubin LJ. Primary pulmonary hypertension. Lancet 1998; 352: 719–725.

Humbert M, Sitbon O, Chaouat A, et al. Pulmonary arterial hypertension in France: results from a national registry. Am J Respir Crit Care Med 2006; 173: 1023–1030.

Peacock AJ, Murphy NF, McMurray JJ, et al. An epidemiological study of pulmonary arterial hypertension. Eur Respir J 2007; 30: 104–109.

McGoon MD, Benza RL, Escribano‐Subias P, et al. Pulmonary arterial hypertension: epidemiology and registries. J Am Coll Cardiol 2013; 62 (Suppl): D51–D59.

Vachiery JL, Gaine S. Challenges in the diagnosis and treatment of pulmonary arterial hypertension. Eur Respir Rev 2012; 21:313–320.

Armstrong I, Billings C, Kiely DG, et al. The patient experience of pulmonary hypertension: a large cross‐sectional study of UK patients. BMC Pulm Med 2019: 19, 67.

Strange G, Gabbay E, Kermeen F, et al. Time from Symptoms to Definitive Diagnosis of Idiopathic Pulmonary Arterial Hypertension: The Delay Study. Pulm Circ 2013; 3: 89–94.

Galie N, Humbert M, Vachiery JL, et al. 2015 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension: The Joint Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS): Endorsed by: Association for European Paediatric and Congenital Cardiology

(AEPC), International Society for Heart and Lung Transplantation (ISHLT). Eur Respir J 2015; 46: 903–975.

Kowal‐Bielecka O, Fransen J, Avouac J EUSTAR Coauthors, et al. Update of EULAR recommendations for the treatment of systemic sclerosis. Ann Rheum Dis 2017; 76: 1327–1339.

Chaisson NF and Hassoun PM. Systemic sclerosis‐associated pulmonary arterial hypertension. Chest 2013; 144: 1346–1356.

Humbert M, Sitbon O, Chaouat A, et al. Survival in patients with idiopathic, familial, and anorexigen‐associated pulmonary arterial hypertension in the modern management era. Circulation 2010; 122: 156–163.

Yang X, Mardekian J, Sanders KN, et al., Clin Rheumatol 2013; 32: 1519–1531.

Benza RL, Gomberg‐Maitland M, Miller DP, et al., The REVEAL Registry risk score calculator in patients newly diagnosed with pulmonary arterial hypertension. Chest 2012; 141: 354–362.

Olschewski H, Behr J, Bremer H, et al. Pulmonary hypertension due to lung diseases: Updated recommendations from the Cologne Consensus Conference 2018. Int J Cardiol 2018 Dec 1; 272S: 63–68.

Mueller‐Mottet S, Stricker H, Domenighetti G, et al., Long‐term data from the Swiss pulmonary hypertension registry. Respiration 2015; 89: 127–140.