(II-1C.1) 23-year-old man with Down syndrome, complete AV canal, Eisenmenger syndrome, and elevated Pulmonary Capillary Wedge Pressure (PCWP) Kopeć G., Stępniewski J., Tyrka A.,

Keywords: Eisenmenger syndrome, Pulmonary Capillary Wedge Pressure, Down syndrome

Pulmonary hypertension (PH) is a hemodynamic and pathophysiological condition defined as an increase in mean pulmonary arterial pressure (PAP)≥ 25 mmHg at rest as assessed by right heart catheterization. PH can be found in multiple clinical conditions. Complete atrioventricular canal (CAVC), an uncommon CHD often associated with Down syndrome, is characterised by an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the ventricular septum inflow. CAVC results in a significant interatrial and interventricular systemic-to-pulmonary shunt, thus inducing right ventricular pressure and volume overload, and pulmonary hypertension. The persistent exposure of the pulmonary vasculature to increased blood flow due to systemic-to-pulmonary shunts as well as increased pressure may result in a typical pulmonary obstructive arteriopathy (identical to other pulmonary arterial hypertension (PAH) forms) that leads to the increase of PVR. If PVR approaches or exceeds systemic vascular resistance, the shunt is reversed (Eisenmenger’s syndrome). The treatment strategies of PAH associated with congenital heart disease (CHD-PAH) are specified in ESC recommendations.
Some people can present with high PWP (>15mmHg), which by definition excludes them from Group 1 making decision regarding therapy more complicated.

Case presentation
A 23-year-old man with Down syndrome and Eisenmenger syndrome as a result of concomitant CHD – complete atrioventricular canal (CAVC) was admitted to the Clinic due to a gradual decrease in exercise capacity. The CHD was diagnosed in his early childhood and had been well tolerated. At the age of 7 he underwent a right heart catheterization procedure, which revealed elevated mean pulmonary artery pressure (mPAP) corresponding with systemic pressure and increased pulmonary vascular resistance.
For the past few months he has been complaining of increased exertional dyspnea and occasional heart palpitations while exercising. He receives digoxin 0.1mg and ramipril 2.5mg once daily. On admission he was hemodynamically stable with no signs of peripheral oedema. He was considered to be in NYHA class III. Physical examination showed typical Down’s features, advanced obesity and vericose veins on both extremities. Blood laboratory analysis revealed elevated red blood cells (RBC) parameters – RBC of 5.73 x 106/ul, hemoglobin (Hb) of 17 g/dl and hematocrit (Hct) of 50.9%, lipid profile values within normal limits. No other abnormalities in blood tests were detected. In the 6- minute walk test he covered a distance of 378 meters with no significant falls in saturation or changes of blood pressure or heart rate. Cardiopulmonary exercise test (CPx) was terminated after 6 minutes and 34 seconds due to general fatigue. Peak oxygen consumption was 9.1 ml/kg/min. An echocardiogram revealed the enlarged right ventricle with diameters of 30mm in the parasternal view and 38mm in the four chamber view (4CHv), enlarged atria, thickening of left and right ventricular walls, moderate tricuspid regurgitation with RVSP of 100mmHg and TAPSE of 23mm. Ventricular septal defect (VSD) was visualized together with shifted mitral and tricuspid valve located at the same level. In order to exclude the thromboembolic aetiology of pulmonary hypertension (PH) a ventilation/perfusion lung scan (V/Q scan) was performed with no signs of chronic pulmonary embolism.

table 1 RHC. Hemodynamic parameterstable1 RHC. Hemodynamic parameters.

Right heart catheterization (table 1) revealed severe pulmonary hypertension, mPAP close to mean systemic pressure, bi-directional shunt with left-to-right predominance and high pulmonary capillary wedge pressure (PCWP) indicating left ventricular diastolic dysfunction. Vasoreactivity test was negative.
Taking into account the fact that severely elevated mPAP coexists with high PCWP simple qualification of this patient to the group of CHD associated pulmonary hypertension (APAH)- group 1, is unauthorized. It implies the difficulty in the choice of specific treatment. In order to plan the most appropriate medical therapy we invited experts to help us answer two questions:
What is the optimal treatment for this patient and should he be put on Bosentan?

Current Guidelines
ESC Recommendations for PAH associated with congenital cardiac shunt (APAH) suggest that the ERA bosentan is indicated in WHO-FC III patients with Eisenmenger’s syndrome. (class I level B)[1]. It does not , however, refer to the group of patients with APAH coinciding with high PCWP as in this case. Additionally, there are no clinical trials focusing on this group of patients.
Michele D’Alto et al. recently published results of their study in an abstract presented at CHEST 2011 titled: Oral Bosentan in Patients With Congenital Heart Disease Related Pulmonary Hypertenion and PWP >15 mm Hg: Safety, Tolerability, Clinical, and Hemodynamic Impact [2]. They stated that 6-month therapy with Bosentan was safe and well tolerated by patients. It significantly improved the clinical status (by WHO FC), exercise tolerance (in 6MWT), pulmonary hemodynamics (by PVR and CO) and did not compromise peripheral oxygen saturation.

1. Guidelines for the diagnosis and treatment of pulmonary hypertension. EHJ 2009;30:2493-2537 – doi:10.1093/eurheartj/ehp297.
2. Oral Bosentan in Patients With Congenital Heart Disease Related Pulmonary Hypertenion and PWP >15 mm Hg: Safety, Tolerability, Clincial, and Haemodynamic Impact. Michele D’Alto et al. Chest. 2011; 140:746A

Expert’s conclusions
Therapy with bosentan should be tried and continued if patient tolerates it well. A request for funding should be submitted to the National Health Fund. Close monitoring is necessary.

23-year-old man with Down syndrome, complete AV canal, Eisenmenger syndrome, and elevated Pulmonary Wedge Pressure (PCWP) – flash presentation

Kopeć G. MD, PhD1, Stępniewski J. MD1, Tyrka A. MD1,

Prof. Fijałkowska A. MD, PhD2, Assoc. Prof. Rudzinski A. MD, PhD.3, Prof. Podolec P. MD, PhD1

1 Department of Cardiac and Vascular Diseases, Jagiellonian University College of Medicine, John Paul II Hospital, Krakow, Poland
2 Departement of Internal Chest Medicine, Institute of Tuberculosis and Lung Diseases, Warsaw, Poland
3 Department of Pediatric Cardiology, Jagiellonian University Collegium Medicum, Krakow, Poland

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