The heart in Fabry’s disease

Introduction: Fabry disease is rare X-linked, recessive lysosomal storage disorder expressed as deficiency in enzyme α-galactosidase A that leads to progressive accumulation of globotriaosylceramide and related glycosphingolipids in various tissues. In cardiac tissues, progressive globotriaosylceramide accumulation leads to irreversible cardiac damage.1,2 Males are primarily affected by Fabry disease, but female heterozygotes may also have symptoms.3 Case report: Our patient is 47-years-old who has been suffering from chronic kidney disease since he was 23 years old. Only twelve years later he developed end-stage renal disease and has been undergoing regular haemodialysis in Dialysis Centre Prijedor (Bosnia and Herzegovina). He started his journey towards kidney transplantation in 2014 in University Hospital Centre Rijeka, which was performed in May 2018. In 2014, during pretransplantation workup, echocardiography was performed revealing concentric cardiac hypertrophy without left ventricle outflow tract obstruction (Figure 1 and Figure 2) associated with contractility and diastolic filling impairment. Following suspicion on Fabry disease, diagnosis was made by measuring α-galactosidase enzyme activity in leukocytes and molecular genetic testing of GLA gene mutation. Enzyme replacement therapy was started with intravenous infusion of recombinant α-galactosidase A (agalsidase beta). Conclusion: Renal disease and echocardiographic features of hypertrophic cardiomyopathy combined with electrocardiographic and clinical criteria should be considered as “red flags” for Fabry disease

Mysterious atrial mass mimicking severe mitral stenosis

Introduction: The differential diagnosis of an intracardiac mass include benign and malignant primary heart tumors, metastatic tumors and thrombi. Primary tumors of the heart consist mainly of myxomas, with an incidence of less than 0.5%. Clinical manifestations are consequence of embolic phenomena, intracardiac obstruction or constitutional symptoms. In rare instances, myxomas can cause a mass effect, resulting in mitral valve obstruction1. Case report: 68-year-old male with a history of ulcerative colitis complained to his gastroenterologist about having exercise intolerance. Undergoing regular colitis evaluation, CT thorax and abdomen scan was performed incidentally revealing a large intracardiac mass. Echocardiogram ordered by the consulting cardiologist demonstrated a large ellipsoid left atrial cyst (50×31 mm), occupying nearly the entire left atrium (Figure 1). The mass was protruding across the mitral valve orifice in diastole causing functional stenosis with an elevated mean diastolic gradient of 10,9 mmHg. Mitral valve area calculated by pressure half-time was 1.0 cm2. Doppler showed moderate tricuspid regurgitation with a systolic pulmonary artery pressure of 50 mmHg. The systolic function was preserved with an estimated left ventricular ejection fraction of 58%. Transesophageal echocardiography described a cavitating lesion (measuring 15,1 cm2, attached to interatrial septum with 24 mm base), having characteristics consistent with a hemorrhagic cyst (Figure 2). Preoperative coronary angiography displayed coronary artery disease and a rare condition of dual coronary artery supply with left circumflex artery (LCx) providing two (Figure 3) and right coronary artery (RCA) one tumor branch (Figure 4) producing a characteric "tumor blush". CT showed large intracardiac mass (Figure 5 and Figure 6). Patient underwent cardiothoracic surgery with successful excision of the tumor (4,5x3x2 cm), the pathohistology confirmed myxoma. Postoperative course was uneventful, exercise intolerance symptoms improved, and echocardiographic follow up showed no intracardiac mass. Conclusion: We described a rare case of cystic-appearance cardiac myxoma with dual coronary supply mimicking mitral valve stenosis. There are not many patients reported with left atrial myxoma being vascularized from both RCA and LCx as seen in our case2. Although more than half of atrial myxomas show obstructive symptoms, severe mitral valve obstruction is rare1. Early echocardiographic examination of patients presenting with exertional dyspnea is advised, as myxomas have an excellent prognosis following surgical excision, preventing complications and improving quality of life

"Znanstvene" informacije u predatorskim časopisima : prijetnja napretku znanosti

Razvoj informacijskih i komunikacijskih tehnologija utječe (i) na objavljivanje znanstvenih informacija. Model otvorenoga pristupa znanstvenim informacijama općeprihvaćen je u globalnoj znanstvenoj zajednici jer su dokazane njegove brojne prednosti, poput veće vidljivosti i utjecaja. Kako bi se pokrili troškovi objavljivanja, razvijaju se i alternativni načini financiranja objavljivanja znanstvenih informacija, primjerice naplata troškova autorima. Međutim, javljaju se izdavači i časopisi koji upravo model otvorenoga pristupa i naplatu autorima iskorištavaju za vlastitu zaradu, ne kontrolirajući kvalitetu informacija koje objavljuju. Izdavači i časopisi koji objavljuju znanstvene radove koji nisu prošli postupak recenzije nazivaju se predatorskim časopisima (engl. predatory publishers) ili časopisima upitne kvalitete te im je jedini cilj zarada. Predatorski izdavači obećavaju brzu recenziju i objavljivanje znanstvenog rada, na svojim web stranicama često imaju navedena lažna uredništva, često šalju individualizirane elektroničke poruke kojima autore pozivaju na objavljivanje radova ili im nude da budu urednici njihovih časopisa. Informacije objavljene u takvim časopisima nisu provjerene kvalitete – postoji mogućnost da su one pogrešne pa se na njima ne smiju temeljiti daljnja istraživanja kako se ne bi ugrozio napredak znanosti. Broj predatorskih časopisa dramatično raste tijekom posljednjih desetak godina. Za prepoznavanje takvih časopisa nužan je visok stupanj informacijske pismenosti, a važnu ulogu u edukaciji trebale bi imati knjižnice pri znanstvenim i visokoškolskim ustanovama. U radu će se prikazati pregled dosadašnjih istraživanja te će se dati pregled primjera predatorskih časopisa

Case Report: Optical Coherence Tomography Usage for Treatment of the Chronically Lost Stent in the Left Main Coronary Artery

Acute adverse outcomes of a stent loss during percutaneous coronary intervention (PCI) are well described, however, data on long-term consequences are scarce, especially with intravascular imaging. We report a case of a coronary stent loss in the left main and ostial left circumflex artery (LCx) bifurcation and its migration into the LCx ostium during PCI procedures. This rare complication, which was not immediately noticed, was verified and successfully resolved 5 months after using optical coherence tomography and right trans-radial access. Considering the infrequency of this complication, few cases have been reported, however, our case has several distinct specificities. We aim to encourage the crushing technique in cases of chronic stent loss when the retrieval is not an option and highlight the optical coherence tomography (OCT) value in imaging and evaluation of similar complex settings