Differential Diagnosis of Veno-Occlusive Pulmonary Hypertension is Challenge in Diagnosing the Child with Restricitive Cardiomyopathy

We present the report of disease in a child with severe restrictive cardiomyopathy (RCM) resulting in the development of veno-occlusive pulmonary arterial hypertension (PAH) and cardiopulmonary insufficiency with NYHA II-III. Due to borderline criteria for heart transplantation (HT), it was difficult to find justification for the procedure, although it was the only way to save the child’s life. The boy was monitored for hepatomegaly one year before admission. At the age of 11, significant dilatation in both atria, accompanied by a reduced cavity of both ventricles led to the recognition that the clinical symptoms were attributed to restrictive cardiomyopathy (RCM) with preserved left ventricular ejection fraction (LVpEF – LV with preserved EF). Because of the evidence suggesting that it is a secondary development of veno-occlusive PAH, before the HT decision it was required to clarify distinguish from reactive PH, in accordance with the latest 6WSPH criteria (6th World Symposium on pulmonary hypertension) [1]. Pulmonary hypertension is considered when the mean pulmonary artery pressure (mPA) is >20 mmHg, transcapillary gradient (PAWP) > 15 mmHg and pulmonary vascular resistance (PVR) ≥ 3 iWJ. Since the patient did not meet the criteria for passive (isolated) precapillary PAH (mPA>20 mmHg, PAWP >15 mmHg and PVR < 3iWJ) with preserved LVEF /IpcPH/LVpEF=Isolated precapillary PH with LVpEF/, but according to the same criteria, he had reactive, or combined veno-occlusive pulmonary hypertension (PVR ≥ 3iWJ) /CpcPH/LVpEF= Combined precapillary PH with LV preserved EF)/. Diagnosis indicated that it was a contraindication for HT. This position is valid only if the discussion about possible reversible changes in PAS (Pulmonary artery small – the former name of arteriole) are ignored. Aware of the fact that HT is risky, but also of the probability that changes caused by the Kitajew phenomenon are reversible [2] contrary to precapillary PH caused by CHD (Euler Ljiljestrand fenomen) [3], we decided to proceed with HT. We are predicting a difficult postoperative course but which can be overcome with adequate measures (strict supervision of the Frank-Starling law) [4] with mechanical and pharmacology support. Encouraged by reports from the literature indicating a significantly higher incidence of passive postcapillary than reactive pulmonary hypertension as well as rapid regression of pulmonary hypertension after elimination of the cause of PAS self perpetuation [5-7], we decided on HT as the only perspective for the survival of a severely ill child. Our arguments also included a discussion on the irreversibility of PAH before the development of Eisenman’s syndrome (ES) (“gray area”, 6-8 iWJ) [8,9]. HT decision despite the inconsistency of the criteria for defining pulmonary hypertension and the type of pulmonary vascular resistance according to the previous international criteria’s [10-13], including the 6WSPH criteria [1,8,14,15]. Our arguments were accepted by the EUROTRANSPLANT committee. A HT was successfully performed and boy was discharged home with good follow up more than > 10 years in good condition (NYHA I).