Restrikcijska kardiomiopatija i presadba srca u djeteta Diferencijalna dijagnoza venookluzivne plućne hipertenzije kao izazov u dijagnostici i liječenju djeteta s restrikcijskom kardimiopatijom

Ivan Malčić, Jasna Stoić Brezak, Dražen Belina, Dalibor Šarić, Dražen Jelašić, Željko Čolak, Sanja Konosić, Višnja Ivančan

Prikazujemo tijek bolesti kod djeteta s teškim oblikom restrikcijske kardiomiopatije (RKM) uslijed koje se razvila posljedična venookluzivna plućna arterijska hipertenzija (PAH) s kardiopulmonalnom insuficijencijom uz NYHA II-III. Zbog graničnih kriterija za transplantaciju srca (TS) bilo je teško naći opravdanje za taj postupak, premda je to bio jedini način da se djetetu spasi život. Prikaz može poslužiti i kao dokaz kako se teške odluke moraju donositi uz zajedničke preporuke tima stručnjaka uz uvažavanje stupnja dokazivosti (engl. common of recomendation on the level of evidence, COR/LOE). Dječak je godinu dana prije prijma opserviran zbog hepatomegalije. Zbog izrazite dilatacije desne pretklijetke, ali uz smanjeni kavitet i zadebljanje stijenki desne klijetke, u dobi od jedanaest godina prepoznat je uzrok kliničkih simptoma u nalazu RKM-a s očuvanom ejekcijskom frakcijom lijeve klijetke (engl. left ventricle wih preserved ejection fraction, LvpEF). Zbog dokaza da je posrijedi sekundarni razvoj venookluzivne PAH, prije odluke o TS trebalo je diferencijalno-dijagnostički razlučiti izoliranu (pasivnu) (IpcPH/LVpEF) od reaktivne (kombinirane) (CpcPH/LVpEF) PAH, uvažavajući najnovije kriterije 6WSPH (6. World Symposium on pulomonary hypertension1). Obradom smo utvrdili reaktivnu venookluzivnu plućnu hipertenziju (PVR ≥ 3iWJ) / = Combined precapilary PH wih LVpreservedEF)/, a to bi trebalo značiti da ima kontraindikaciju za TS. Taj stav vrijedi samo ako se zanemari rasprava o moguće reverzibilnim promjenama u malim plućnim krvnim žilama (PAs, engl. pulmonary artery small – prijašnji naziv arteriole). Svjesni činjenice da je TS rizična, ali i vjerojatnosti da su promjene uzrokovane Kitajewljevim fenomenom reverzibilne2, odlučili smo se na TS. Pripremili smo se za otežan postoperacijski tijek bolesti koji predviđa ozbiljnu postoperacijsku krizu, a koja se može premostiti adekvatnim mjerama zbrinjavanja (strogi nadzor Frank-Starlingova zakona)3 uz adekvatnu aparaturnu i medikamentoznu potporu. Imali smo opsežnu i temeljitu raspravu s povjerenstvnom Eurotransplanta naše ustanove i naši su argumenti prihvaćeni. Nakon uspješno izvedene TS, uz predviđeni otežani i produljeni postoperacijski tijek, dječak je otpušten na kućnu njegu i danas se ne razlikuje bitno od svojih 23-godišnjih vršnjaka.

We present the course of the disease in a child with severe restrictive cardiomyopathy (RCM) that resulted in the development of veno-occlusive pulmonary arterial hypertension (PAH) with cardiopulmonary insufficiency with NYHA II-III. Due to the cut-off criteria for heart transplantation (HT), it was difficult to find justification for this procedure, although it was the only way to save the child’s life. The report can also serve as an evidence that difficult decisions must be made with the joint recommendations of a team of experts taking into account the level of evidence (COR/LOE). The boy was observed for hepatomegaly one year before admission. Due to marked dilatation of the right atrium, but with a reduced cavity and thickening of the right ventricular walls, at the age of 11 the cause of the clinical symptoms was recognized in the finding of RCM with preserved ejection fraction of the left ventricle (LVpEF-left ventricle with preserved ejection fraction). Because of the evidence that it was the secondary development of veno-occlusive PAH, before the decision on HT, it was necessary to differentially diagnose isolated (passive) (IpcPH/LVpEF) from reactive (combined) (CpcPH/LVpEF) PAH, considering the latest 6WSPH criteria (6th World Symposium on pulmonary hypertension (1). We determined reactive venoocclusive
pulmonary hypertension (PVR ≥ 3iWJ) /CpcPH/LVpEF = Combined precapillary PH wih LVpreservedEF), which should mean that there was a contraindication for HT. This attitude is valid only if the discussion about possible reversible changes in small pulmonary blood vessels (PAs, Pulmonary artery small – the former name of arteriole) is ignored. Aware of the fact that HT is risky, but also of the probability that changes caused by the Kitajew phenomenon are reversible (2), we decided on HT. We prepared for a difficult postoperative course of the disease, which predicted a serious postoperative crisis, that can be overcome by appropriate care measures (strict monitoring of the Frank-Starling law) (3) with adequate equipment and medication support. We had an extensive and thorough discussion with the Eurotransplant committee of our institution and our arguments were accepted. After successfully performed HT, with the predicted difficult and prolonged postoperative course, the boy was discharged to home care and today does not differ significantly from his 23-year-old peers.