Potpuni i djelomični anomalni utok pulmonalnih vena: 10-godišnja retrospektivna studija dijagnostičkih i terapijskih postupaka te ishoda bolesti

Ivan Malčić, Ida Nađ, Dorotea Šijak, Maja Hrabak Paar, Andrija Miculinić

Uvod: Potpuni anomalni utok pulmonalnih vena (engl. Total Anomalous Pulmonary Venous Return – TAPVR) jest rijetka prirođena srčana grješka (PSG) s očekivano lošom prognozom ako nema točne i rane dijagnoze i adekvatnog liječenja. Zbog napretka u struci ishod je bolesti s vremenom sve bolji. Cilj: Prikazati kliničke simptome, dob pri dijagnozi i ishod bolesti. Sporedni cilj jest prikazati TAPVR ne samo kao izoliranu anomaliju, već i u sklopu složenih PSG-a, uključujući i sindrom heterotaksije te sporadičnu pojavu parcijalnoga anomalnog utoka pulmonalnih vena (engl. Parcial Anomalous Pulmonary Venous Return – PAPVR). U studiju nisu uključena djeca s atrijskim septalnim defektom (ASD) tipa sinus venosus koji redovito imaju PAPVR. Metode: Podatci su prikupljeni na osnovi raspoloživih povijesti bolesti u vremenskom razdoblju od 10 godina. Evaluirana je klinička slika, rutinske pretrage (EKG, rendgenska slika i ultrazvuk), a u većine bolesnika učinjena je kateterizacija srca i selektivna angiokardiografija te račun po Ficku. U dijela bolesnika učinjen je prikaz kompjutoriziranom tomografijom (CT) ili magnetnom rezonancijom (MR), osobito kod PAPVR-a. Učinjena je deskriptivna analiza prema spolu, dobi kod dijagnoze, naravi srčanih simptoma, pridruženosti drugih srčanih anomalija, plućne hipertenzije i kratkoročnog ishoda bolesti. Rezultati: Od 35 pacijenata s TAPVR-om i PAPVR-om 18 (51%) ih je muškog spola (M:Ž = 1:1). Od toga je 25 (71,4%) bilo s TAPVR-om, 10 (28,6%) s PAPVR-om, od čega jedan (2,9%) sa sindromom scimitar, a 9 (25,7%) s drugim anomalnim utocima PV. Vrijeme dijagnosticiranja bilo je u skupini s TAPVR-om prije navršenoga prvog mjeseca života u 24 (68,6%) bolesnika, a kod PAPVR-a u većine djece dijagnoza je postavljena nakon šestog mjeseca života. U ukupnom zbiru, tijekom prvog mjeseca života dijagnosticirano je 26 (74,2%), od 2 do 4 mjeseca života jedan (2,9%) i poslije šestog mjeseca 8 (22,9%) bolesnika. Kod 23 (65,7%) bolesnika postoji polisimptomatska klinička slika, a dominira tahidispneja i cijanoza. Kod 20 (57,1%) bolesnika ne nalazimo plućnu arterijsku hipertenziju (PAH), u koju su svrstani svi sa srednjim tlakom u plućnoj arteriji (mPA) 20 ili manje od 20 mmHg. U skupinu s blagom, odnosno početnom PAH smatramo bolesnike s mPA više od 20 i manje od 25 mmHg, ali još bez porasta plućnog vaskularnog otpora (PVR<2,5 WU/m2), a teškom PAH smatrali smo bolesnike s patološkom porastom mPA (> 25 mmHg) i uz porast PVR > 3 WU/m2 u 13 (37,1%). Dva bolesnika (5,7%) nisu kateterizirana. Dobar ishod, uz blage rezidue i s dobrim oporavkom nalazimo u 13 (37,1%) bolesnika, a kod istog broja postoje teže i višestruke komplikacije. Smrtni ishod zabilježen je u 8 (22,9%) bolesnika. Ukupna stopa preživljavanja u 10-godišnjem praćenju (follow-up) je 74%. Zaključak: Najučestaliji klinički simptomi u novorođenčadi s TAPVR-om su tahipneja i cijanoza. Dijagnoza se uz poznavanje nozoloških obilježja TAPVR-a može postaviti rutinskim kardiološkim metodama, a kod kompleksnih grješaka i PAPVR-a važno je koristiti prednosti CT-a i MR-a. Ishod bolesti se poboljšava s ukupnim napretkom struke usprkos mogućem smrtnom ishodu i postoperativnim komplikacijama. Potrebno je temeljitije spoznati nozološka obilježja i poboljšati dijagnostički i terapijski postupak.

Introduction: Total anomalous pulmonary venous return (TAPVR) is a rare congenital heart defect (CHD) with an expectedly poor prognosis if there is no accurate and early diagnosis and adequate treatment. Due to advances in the profession, the outcome of the disease has improved over time. Objective: The aim of the study is to present clinical symptoms, age at diagnosis and disease outcome. A secondary goal is to present TAPVR not only as an isolated anomaly, but also as a part of complex CHD, including heterotaxia syndrome and the sporadic occurrence of partial abnormal pulmonary venous return (PAPVR). Children with atrial septal defect (ASD) of the sinus venosus type who regularly have PAPVR were not included in the study. Methods: Data were collected based on available medical histories over a period of ten years. The clinical presentation, routine examinations (ECG, X-ray and echo ) were evaluated, and in most patients cardiac catheterization and selective angiocardiography were performed, as well as Fick’s calculation. In some patients, computed tomography (CT) or magnetic resonance imaging (MRI) was performed (especially in PAPVR). A descriptive analysis was performed according to gender, age at diagnosis, nature of cardiac symptoms, associated other cardiac anomalies, pulmonary hypertension, and short-term disease outcome. Results: Of the 35 patients with TAPVR and PAPVR, 18 (51%) were male (M: F = 1: 1). Of these, 25 (71.4%) were with TAPVR, ten (28.6%) with PAPVR, of which one (2.9%) with Scimitar syndrome, and nine (25.7%) with other abnormal inflows of PV. The time of diagnosis in the group with TAPVR was before the first month of life in 24 (68.6%) patients, and in PAPVR in most children the diagnosis was made after the sixth month of life. In total, 26 (74.2%) patients were diagnosed during the first month of life and eight (22.9%) after the sixth month. In 23 (65.7%) there was a polysymptomatic clinical picture, dominated by tachypnea and cyanosis. In 20 (57.1%) patients we did not find pulmonary arterial hypertension (PAH), which includes all with a mean pulmonary artery pressure (mPA) of 20 or less than 20 mmHg. In the group with mild or initial PAH we considered patients with mPA more than 20 and less than 25 mmHg, but still without increase in pulmonary vascular resistance (PVR <2.5 WU / m2), and as severe PAH we considered patients with pathological increased mPA (> 25 mmHg), and with an increase in PVR> 3 WU / m2 in 13 (37.1%). A good outcome, with mild residues and good recovery was found in 13 (37.1%) patients, and in the same number there were more severe and multiple complications. Death outcome was recorded in eight (22.9%) patients. The overall survival rate in a 10-year follow-up is 74%. Conclusion: The most common clinical symptoms in neonates with TAPVR are tachypnea and cyanosis. Diagnosis with knowledge of the nosological features of TAPVR can be made by routine cardiac methods, and in complex anatomy and PAPVR it is important to take advantage of CT and MRI. The outcome of the disease improves with the overall progress of the profession despite the possible fatal outcome and postoperative complications. It is necessary to better understand the nosological features and improve the diagnostic and therapeutic procedure.