Aritmogena kardiomiopatija desne klijetke – jesmo li suvremenim dijagnostičkim i terapijskim pristupom izbjegli tragediju u obitelji? [Right ventricular arrhytmogenic cardiomyopathy – have we avoided a family tragedy by applying contemporary diagnostic and treatment approach?]

Introduction: Arrhytmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by fi brofatty replacement, dominantly in the right, but often also in the left ventricle. It is a signifi cant cause of sudden death in children and adolescents. A thorough family history and contemporary diagnostic and treatment approach are prerequisites for the prevention of the sudden death syndrome. The diagnosis is more often established in adults than in children. Patients: We present a family with four members affected and diagnosed with ARVC already in childhood/adolescence. The average age of symptom presentation was 12 years (10–14 years). The importance of family tree isemphasized and contemporary diagnostic and treatment methods, with the aim of sudden death prevention, are described. Conclusions: Family history is essential for the early ARVC diagnosis. There is a need for revision of current diagnostic criteria in pediatric population. In the future progression of fi brous tissue proportion in relation to age and the stage of the disease should be taken in account. Furthermore, the repolarisation abnormality is inappropriate as a criterion in children less than 14 years old, so in that age group less of present diagnostic criteria can be applied. A combination of modern implantable cardioverter defi brillator and radiofrequency ablation assures an excellent life quality in our patients. However, the longterm prognosis for our patients, because of a progressive course of the disease, remains uncertain

Primary malignant fibrous histiocytoma of the heart with skeletal muscles metastases

Malignant fibrous histiocytoma is an extremely rare primary malignant tumor of the heart. It is usually diagnosed when it is locally aggressive or has already metastasized. The prognosis is poor with an average survival time of one year. We report a case of recurrent left atrial malignant fibrous histiocytoma initially misdiagnosed as myxoma. The patient underwent repeated surgical resections followed by chemotherapy. Despite adjuvant chemotherapy, 18 months after initial diagnosis, definitive tumor relapse in left atrium was diagnosed. This is the 48th case of primary cardiac fibrous malignant histiocytoma reported in the literature

RIGHT VENTRICULAR ARRHYTMOGENIC CARDIOMYOPATHY – HAVE WE AVOIDED A FAMILY TRAGEDY BY APPLYING CONTEMPORARY DIAGNOSTIC AND TREATMENT APPROACH?

Uvod: Aritmogena kardiomiopatija desne klijetke (engl. Arrhythmogenic right ventricular cardiomyopathy – ARVC) nasljedna je kardiomiopatija karakterizirana pretvorbom miocita u masno i vezivno tkivo, pretežno desne, no ­nerijetko i lijeve klijetke. Važan je uzrok iznenadne smrti djece i adolescenata. Temeljita obiteljska anamneza i suvremeni dijagnostički i terapijski pristup preduvjeti su za sprečavanje sindroma iznenadne smrti. Češće se dijagnoza postavlja u odraslih nego u djece. Prikaz bolesnika: Prikazujemo obitelj u kojoj je u četvero članova postavljena dijagnoza ARVC-a već u dječjoj/adolescentnoj dobi. Prosječna dob pojave simptoma kod tih bolesnika bila je 12 godina (10 – 14). Ističe se važnost obiteljskog stabla i opisuju se suvremene metode dijagnosticiranja i terapijskog pristupa, radi prevencije iznenadne smrti. Zaključujemo da je obiteljska anamneza temelj za rano postavljanje dijagnoze ARVC-a. Nazire se potreba revizije postojećih dijagnostičkih kriterija ARVC-a za pedijatrijsku populaciju. Valjalo bi uzeti u obzir progresivno povećanje ­udjela veziva u odnosu prema miocitima u ovisnosti o dobi i stadiju bolesti. S obzirom na neprimjenjivost kriterija smetnja repolarizacije kod djece mlađe od 14 godina, treba razmotriti smanjenje broja kriterija potrebnih za postavljanje dijagnoze u toj dobnoj skupini. Implantabilni elektrokardioverter defibrilator (ICD) i radiofrekventna ablacija u kombinaciji kratkoročno osiguravaju odličnu kvalitetu života kod našeg bolesnika s teškim oblikom ARVC-a, dok su dugoročni rezultati s obzirom na progresivni tijek bolesti neizvjesni.Introduction: Arrhytmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by fibrofatty replacement, dominantly in the right, but often also in the left ventricle. It is a significant cause of sudden death in children and adolescents. A thorough family history and contemporary diagnostic and treatment approach are prerequisites for the prevention of the sudden death syndrome. The diagnosis is more often established in adults than in children. Patients: We present a family with four members affected and diagnosed with ARVC already in childhood/adolescence. The average age of symptom presentation was 12 years (10–14 years). The importance of family tree isemphasized and contemporary diagnostic and treatment methods, with the aim of sudden death prevention, are described. Conclusions: Family history is essential for the early ARVC diagnosis. There is a need for revision of current diagnostic criteria in pediatric population. In the future progression of fibrous tissue proportion in relation to age and the stage of the disease should be taken in account. Furthermore, the repolarisation abnormality is inappropriate as a criterion in children less than 14 years old, so in that age group less of present diagnostic criteria can be applied. A combination of modern implantable cardioverter defibrillator and radiofrequency ablation assures an excellent life quality in our patients. However, the longterm prognosis for our patients, because of a progressive course of the disease, remains uncertain

Amyloidosis of the Aortic Root in a Patient with Polyarteritis Nodosa

Amyloidosis results from the deposition of insoluble fibrillar proteins in various tissues. Cardiac symptoms, when present, are usually related to congestive heart failure or arrhythmias. Amyloid involvement of the aortic root is exceedingly rare. We describe a case of aortic root amyloidosis in a patient with a long-standing history of polyarteritis nodosa

TESTICULAR CAPILLARY HEMANGIOMA, REPORT A TWELVE YEAR PATIENT

Kapilarni hemangiom testisa iznimno je rijedak tumor. Prikazujemo slučaj testikularnog hemangioma u namjeri da skrenemo pozornost na rijetke benigne neoplazme i poštednu kirurgiju testisa zahvaćenog tumorom. Bolesnik je dvanaestogodišnji dječak, koji se prezentirao vodenom kilom i palpabilnim tumorom lijevog testisa. Ultrazvuk skrotuma i testisa pokazuje varikokelu II. stupnja, manji izljev u lijevom skrotumu te hipoehogenu zonu lijevog testisa veličine 5 mm u promjeru. Razina tumorskih markera u serumu (alfa-fetoproteina i beta-korionskoga gonadotropina) bila je u granicama referentnih vrijednosti. Intraoperativno je načinjena biopsija, a brza histološka analiza (na smrznutom preparatu) pokazuje kapilarni hemangiom. Potom je tumor potpuno odstranjen, a testis sačuvan. Klinički, ultrazvučnim nalazom i nalazom magnetske rezonancije hemangiomi se ne razlikuju od malignih solidnih tumora testisa. Intraoperacijska brza patohistološka dijagnoza određuje opsežnost kirurškog zahvata. Enukleacija hemangioma u zdravo tkivo testisa siguran je i opravdan kirurški zahvat.Capillary hemangiomas of the testis are extremly rare tumors. We reported a case of intratesticular hemangioma, unusually localisation of this vascular benign neoplasm. The patient was 12 year old boy, with hydrocele and a palpabile testicular mass. Scrotal sonography revealed varicocele and hydrocele in the left scrotal sac. There was a solid hypoechogenic zone 5 mm in diameter in the left testis. Tumor markers like serum level of b human chorionic gonadotropin and a fetoprotein were normal. The patient underwent surgery, and intraoperativ frozen section showed a capillary hemangioma. The lesion was completly removed, but testis was preserved. Accordingly tu the literature, tumors of vascular origin are extremly rare. Capillary hemangiomas of the testis are similarity to malignant testicular solid tumors during physical examination, ultrasound examination and MR imaging. Before operation, it’s hardly differentiate tumors of testis, but intraoperativ frozen section cuold be helpfull to differentiate a hemangioma from other testicular mass. Hemangioma is benign, but lesion must be complete removed to avoid recurence. In cases capillarx hemangimas, tumor enucleation with preservation tissue of the testis is possible if intraoperative frozen section examination can be performed

Kardiomiopatije u djece - Današnja stajališta i naša iskustva Hrvatska retrospektivna epidemiološka studija 1988. - 2016. [Cardiomyopathies in children - Current opinions and our experiences Croatian retrospective epidemiological study 1988-2016]

INTRODUCTION: Cardiomyopathies (CM) account for 3-5% of patients in the care of pediatric cardiologists. They are found in all age groups, from fetal to adolescent age, and along with cardiology, teams from several other pediatric subspecialties (neurology, metabolism, genetics) are also included. New findings have led to a high survival rate. ----- GOAL: The primary goal is to present CM as an important part in the work of pediatric cardiologist through an elaborate epidemiological study, current classifications, the latest diagnostic methods and treatments, as well as the intertwining with other subspecialties. The secondary goal is to show that CM are no longer “uncommon, insignificant and terminal”, but are common, significant and treatable diseases. ----- RESULTS: From January 1988 to December 2016 (28 years) in the Referral Center for Pediatric Cardiology, Department of Pediatrics, Clinical Hospital Centre, 315 patients were diagnosed with cardiomyopathy,183 males (58.1%) and 132 females (41.9%). In three different periods (10 , 12 and six years) a classification from 1996 was used (10). All three periods have features of a population study, whereas the latter two also have features of an epidemiological study. In all three periods there was a predominance of dilated cardiomyopathies (DCM) (42.5%) , followed by hypertrophic cardiomyopathies (HCM) (37.1%) and restrictive cardiomyopathies (RCM) (6.7%) . Their relative relations were in constant balance. A significant increase of some entity forms, arrhythmogenic right ventricular cardiomyopathies (ARVCM) and non-compaction cardimyopathies (NCCM) has been observed, from 5.8% (1988-1998) to 16.2% (2010-2016). Owing to advances in diagnostic methods, number of unclassified CM has been decreasing significantly. The cause remained unknown in only 24.4% of DCM patients, and in 18.8% of HCM patients. In the last 18 years the mortality rate of 7.4% (14/194) has been recorded, 50% (7/14) due to DCM. That is the result of teamwork, targeted medical therapy, electrotherapy (electrical stimulation - ES, cardiac resynchronisation - CRS, implantable cardioverter defibrilator - ICD) and surgical therapy (Morrow, pulmonary artery banding - PAB), including heart transplantaton since 2011 (8 patients). Conclusion: Cardiomyopathies are after congenital heart defects the most severe diseases under care of pediatric cardiologists. They require fluent teamwork of several expert groups, and mastering of numerous diagnostic and therapeutic methods. Dilated cardiomyopathies are the most common cause of death and the indication for heart transplatation in children

Cardiomyopathies in children – Current opinions and our experiences Croatian retrospective epidemiological study 1988-2016

Uvod: Na kardiomiopatije (KM) otpada 3 – 5% svih bolesnika za koje se skrbe pedijatrijski kardiolozi. Nalaze se u svim dobnim skupinama, od fetalne do adolescentne dobi, a u timskom radu obuhvaćaju uz kardiologiju više pedijatrijskih supspecijalnosti (neurologija, metabolizam, genetika). Zbog novih spoznaja i mogućnosti liječenja stupanj preživljenja sve je viši. Cilj: Primarni je cilj prikazati KM-e opsežnom retrospektivnom epidemiološkom studijom prema suvremenoj klasifikaciji, primjenom najnovijih dijagnostičkih metoda i terapijskih pristupa te prožimanjem s ostalim supspecijalnostima. Sekundarni je cilj pokazati da kardiomiopatije više nisu „rijetke, nevažne i neizlječive“, nego su česte, važne i lječive. Rezultati studije: U razdoblju od siječnja 1988. do prosinca 2016. (28 godina) u Referentnom centru za pedijatrijsku kardiologiju Klinike za pedijatriju KBC-a Zagreb hospitalizirano je 315 bolesnika s dijagnozom kardiomiopatije, 183 muškog (58,1%) i 132 ženskog (41,9%) spola. U tri različita razdoblja (10 godina, 12 godina, 6 godina) služili smo se klasifikacijom KM-a iz 1996. godine. Sva tri razdoblja imaju obilježja populacijske, a posljednja dva imaju obilježja i kliničke epidemiološke studije. U sva tri razdoblja najčešća je dilatacijska kardiomiopatija (DKM) (42,5%), a slijede hipertrofična (HKM) (37,1%) i restrikcijska (RKM) (6,7%). Njihovi su relativni odnosi u stalnoj ravnoteži. Uočava se znatan porast entitetskih oblika: aritmogena desnoventrikularna kardiomiopatija (ADVKM) i nekompaktna kardiomiopatija (NKKM), i to od 5,8% (1988. – 1998.) na 16,2% (2010. – 2016.). Smanjen je broj KM-a nepoznata uzroka: kod DKM-a 24,4%, a kod HKM-a tek 18,8%. U posljednjih 18 godina zabilježili smo smrtnost od 7,4% (14/194), od čega 50% (7/14) otpada na DKM. Rezultat je to timskog rada, ciljane medikamentne terapije, elektroterapije (elektrostimulator – ES, srčana resinkronizacija – CRS, implantabilni kardioverterski defibrilator – ICD) i kardiokirurške terapije (operacija prema Morrowu, zaomčavanje (engl. banding) plućne arterije – PAB), uključujući i presadbu srca od 2011. godine (8 bolesnika). Zaključak: Kardiomiopatije su nakon prirođenih srčanih grješaka najteže bolesti u skrbi pedijatrijskog kardiologa, nalažu skladan timski rad više skupina stručnjaka te svladavanje brojnih dijagnostičkih i terapijskih metoda. Dilatacijske kardiomiopatije najčešći su uzrok smrti i najčešća indikacija za presadbu srca u djece.Introduction: Cardiomyopathies (CM) account for 3-5% of patients in the care of pediatric cardiologists. They are found in all age groups, from fetal to adolescent age, and along with cardiology, teams from several other pediatric subspecialties (neurology, metabolism, genetics) are also included. New findings have led to a high survival rate. Goal: The primary goal is to present CM as an important part in the work of pediatric cardiologist through an elaborate epidemiological study, current classifications, the latest diagnostic methods and treatments, as well as the intertwining with other subspecialties. The secondary goal is to show that CM are no longer “uncommon, insignificant and terminal”, but are common, significant and treatable diseases. Results: From January 1988 to December 2016 (28 years) in the Referral Center for Pediatric Cardiology, Department of Pediatrics, Clinical Hospital Centre, 315 patients were diagnosed with cardiomyopathy,183 males (58.1%) and 132 females (41.9%). In three different periods (10 , 12 and six years) a classification from 1996 was used (10). All three periods have features of a population study, whereas the latter two also have features of an epidemiological study. In all three periods there was a predominance of dilated cardiomyopathies (DCM) (42.5%) , followed by hypertrophic cardiomyopathies (HCM) (37.1%) and restrictive cardiomyopathies (RCM) (6.7%) . Their relative relations were in constant balance. A significant increase of some entity forms, arrhythmogenic right ventricular cardiomyopathies (ARVCM) and non-compaction cardimyopathies (NCCM) has been observed, from 5.8% (1988-1998) to 16.2% (2010-2016). Owing to advances in diagnostic methods, number of unclassified CM has been decreasing significantly. The cause remained unknown in only 24.4% of DCM patients, and in 18.8% of HCM patients. In the last 18 years the mortality rate of 7.4% (14/194) has been recorded, 50% (7/14) due to DCM. That is the result of teamwork, targeted medical therapy, electrotherapy (electrical stimulation - ES, cardiac resynchronisation - CRS, implantable cardioverter defibrilator - ICD) and surgical therapy (Morrow, pulmonary artery banding - PAB), including heart transplantaton since 2011 (8 patients). Conclusion: Cardiomyopathies are after congenital heart defects the most severe diseases under care of pediatric cardiologists. They require fluent teamwork of several expert groups, and mastering of numerous diagnostic and therapeutic methods. Dilated cardiomyopathies are the most common cause of death and the indication for heart transplatation in children

Amyloidosis of the aortic root in a patient with polyarteritis nodosa [Amiloidoza korijenja aorte u bolesnika s nodoznim poliarteritisom]

Amyloidosis results from the deposition of insoluble fibrillar proteins in various tissues. Cardiac symptoms, when present, are usually related to congestive heart failure or arrhythmias. Amyloid involvement of the aortic root is exceedingly rare. We describe a case of aortic root amyloidosis in a patient with a long-standing history ofpolyarteritis nodosa

Kapilarni hemangiom testisa, prikaz dvanaestogodišnjeg bolesnika [Testicular capillary hemangioma, report a twelve year patient]

Capillary hemangiomas of the testis are extremly rare tumors. We reported a case of intratesticular hemangioma, unusually localisation of this vascular benign neoplasm. The patient was 12 year old boy, with hydrocele and a palpabile testicular mass. Scrotal sonography revealed varicocele and hydrocele in the left scrotal sac. There was a solid hypoechogenic zone 5 mm in diameter in the left testis. Tumor markers like serum level of beta human chorionic gonadotropin and alpha fetoprotein were normal. The patient underwent surgery, and intraoperativ frozen section showed a capillary hemangioma. The lesion was completly removed, but testis was preserved. Accordingly tu the literature, tumors of vascular origin are extremly rare. Capillary hemangiomas of the testis are similarity to malignant testicular solid tumors during physical examination, ultrasound examination and MR imaging. Before operation, it's hardly differentiate tumors of testis, but intraoperativ frozen section cuold be helpfull to differentiate a hemangioma from other testicular mass. Hemangioma is benign, but lesion must be complete removed to avoid recurence. In cases capillarx hemangimas, tumor enucleation with preservation tissue of the testis is possible if intraoperative frozen section examination can be performed