Total Anomalous Pulmonary Venous Return (TAPVR) is an infrequent congenital heart de-fect, occurring in about 1 in 15,000 live births. The condition involves an abnormal con-nection where pulmonary ...veins, rather than attaching to the left atrium, drain into the right atrium or systemic venous circulation.
Aortic valve stenosis is the most common cardiac valve disease, and with current trends in the population demographics, its prevalence is likely to rise, thus posing a major health and economic ...burden facing the worldwide societies. Over the past decade, it has become more than clear that our traditional genetic views do not sufficiently explain the well-known link between AS, proatherogenic risk factors, flow-induced mechanical forces, and disease-prone environmental influences. Recent breakthroughs in the field of epigenetics offer us a new perspective on gene regulation, which has broadened our perspective on etiology of aortic stenosis and other aortic valve diseases. Since all known epigenetic marks are potentially reversible this perspective is especially exciting given the potential for development of successful and non-invasive therapeutic intervention and reprogramming of cells at the epigenetic level even in the early stages of disease progression. This review will examine the known relationships between four major epigenetic mechanisms: DNA methylation, posttranslational histone modification, ATP-dependent chromatin remodeling, and non-coding regulatory RNAs, and initiation and progression of AS. Numerous profiling and functional studies indicate that they could contribute to endothelial dysfunctions, disease-prone activation of monocyte-macrophage and circulatory osteoprogenitor cells and activation and osteogenic transdifferentiation of aortic valve interstitial cells, thus leading to valvular inflammation, fibrosis, and calcification, and to pressure overload-induced maladaptive myocardial remodeling and left ventricular hypertrophy. This is especcialy the case for small non-coding microRNAs but was also, although in a smaller scale, convincingly demonstrated for other members of cellular epigenome landscape. Equally important, and clinically most relevant, the reported data indicate that epigenetic marks, particularly certain microRNA signatures, could represent useful non-invasive biomarkers that reflect the disease progression and patients prognosis for recovery after the valve replacement surgery.
The use of high-sensitive cardiac troponin T (hsTnT) in urine as a marker of cardiac damage in children has not yet been reported. Elimination of cardiac troponins is dependent on renal function; ...persistently increased serum hsTnT concentrations were observed among individuals with impaired renal function. The aim of this study was to investigate serum and urine hsTnT levels and its correlation in infants and children younger than 24 months of age after cardiac surgery.BackgroundThe use of high-sensitive cardiac troponin T (hsTnT) in urine as a marker of cardiac damage in children has not yet been reported. Elimination of cardiac troponins is dependent on renal function; persistently increased serum hsTnT concentrations were observed among individuals with impaired renal function. The aim of this study was to investigate serum and urine hsTnT levels and its correlation in infants and children younger than 24 months of age after cardiac surgery.This study was conducted on 90 infants and children under 24 months of age who were divided into three groups. The experimental group consisted of patients with intracardiac surgery of ventricular septal defect (VSD), first control group consisted of infants with extracardiac formation of bidirectional cavopulmonary connection (BCPC), and the second control group consisted of healthy children. Troponin T values were determined in serum and urine at five time points: the first sample was taken on the day before cardiac surgery (measure 0) and the other four samples were taken after the surgery; immediately after (measure 1), on the first (measure 2), third (measure 3), and fifth postoperative day (measure 5). The first morning urine was sampled for determining the troponin T in the control group of healthy infants.MethodsThis study was conducted on 90 infants and children under 24 months of age who were divided into three groups. The experimental group consisted of patients with intracardiac surgery of ventricular septal defect (VSD), first control group consisted of infants with extracardiac formation of bidirectional cavopulmonary connection (BCPC), and the second control group consisted of healthy children. Troponin T values were determined in serum and urine at five time points: the first sample was taken on the day before cardiac surgery (measure 0) and the other four samples were taken after the surgery; immediately after (measure 1), on the first (measure 2), third (measure 3), and fifth postoperative day (measure 5). The first morning urine was sampled for determining the troponin T in the control group of healthy infants.A positive correlation between troponin T values in serum and urine was found. Urine hsTnT measured preoperatively in children undergoing BCPC surgery was higher (median 7.3 IQR 6.6-13.3 ng/L) compared to children undergoing VSD surgery (median 6.5 IQR 4.4-8.9 ng/L) as well as to healthy population (median 5.5 IQR 5.1-6.7 ng/L). After logarithmic transformation, there was no statistically significant difference in urine hsTnT concentration between the groups at any point of measurement preoperatively or postoperatively. Statistically significant negative correlation was found between serum and urine hsTnT concentrations and glomerular filtration rate estimated by creatinine clearance. Patients who underwent surgical repair of VSD had significantly higher concentrations of troponin T in serum on the first three postoperative measurements compared to those who had BCPC surgery.ResultsA positive correlation between troponin T values in serum and urine was found. Urine hsTnT measured preoperatively in children undergoing BCPC surgery was higher (median 7.3 IQR 6.6-13.3 ng/L) compared to children undergoing VSD surgery (median 6.5 IQR 4.4-8.9 ng/L) as well as to healthy population (median 5.5 IQR 5.1-6.7 ng/L). After logarithmic transformation, there was no statistically significant difference in urine hsTnT concentration between the groups at any point of measurement preoperatively or postoperatively. Statistically significant negative correlation was found between serum and urine hsTnT concentrations and glomerular filtration rate estimated by creatinine clearance. Patients who underwent surgical repair of VSD had significantly higher concentrations of troponin T in serum on the first three postoperative measurements compared to those who had BCPC surgery.According to the results of this study, renal function after cardiac surgery appears to have a major effect on the urinary hsTnT concentrations, and we cannot conclude that this is an appropriate marker for the assessment of postoperative myocardial damage in children. Nevertheless, more research is needed to reach a better understanding of the final elimination of cardiac troponins in children.ConclusionsAccording to the results of this study, renal function after cardiac surgery appears to have a major effect on the urinary hsTnT concentrations, and we cannot conclude that this is an appropriate marker for the assessment of postoperative myocardial damage in children. Nevertheless, more research is needed to reach a better understanding of the final elimination of cardiac troponins in children.
Cilj rada: prikazati nove metode intervencijskog liječenja u Referentnom centru. Bolesnici i metode: Prikazani su slučajevi od 1. srpnja 2018. do 1. srpnja 2022. u kojih je učinjena nova procedura, ...neovisno o dobi i spolu. U analizu su uključeni svi pacijenti kojima je učinjena nova metoda intervencijskog liječenja s prikazom podležeće anatomske/hemodinamske patologije te prikazom nove metode. Rezultati: U navedenom periodu uvedeno je pet novih perkutanih metoda, učinjenih u ukupno 34 pacijenta. Učinjeno je trinaest intervencija umetanja stenta u trinaest pacijenata s koarktacijom aorte. Srednja dob pacijenata kojima je učinjen perkutani zahvat umetanja stenta u koarktaciju aorte jest 13,4 godine. U navedenom periodu u šestero pacijenata stenoza pulmonalne grane liječena je umetanjem stenta. Od toga je troje pacijenata bilo dojenačke dobi, jedno u dobi od šesnaest mjeseci, jedno u dobi od četiri godine te jedna pacijentica u dobi od petnaest godina. U tri bolesnika učinjeno je perkutano umetanje zalistka Melody (kravlja jugularna vena integrirana u prekriveni stent), srednje dobi kod zahvata 17,3 godine. Metodom dilatacije stenta, zbog razvoja restenoze, liječili smo deset pacijenata, kod čega sedam dilatacijom prethodno umetnutog stenta u rekoarktaciju aorte, dva pacijenta dilatacijom stenta umetnutog na poziciji restenoze pulmonalnih grana te jednog dilatacijom stenta u stenotičnoj gornjoj šupljoj veni. Peta metoda koje je uvedena jest zatvaranje aortopulmonalnih kolaterala u djece s univentrikulskom cirkulacijom. Učinjena je u dvoje djece, dojenčeta u dobi od četiri mjeseca i pacijentice u dobi od tri i pol godine, a koji boluju od sindroma hipoplastičnoga lijevog srca. Svi su zahvati učinjeni uz povoljan hemodinamski rezultat, bez akutnih uz zahvat vezanih komplikacija. Zaključak: Uvođenjem novih metoda stekli smo nova znanja, poboljšali razinu dostupne skrbi u Republici Hrvatskoj (RH) te u konačnici i utjecali na smanjenje slanja složenih bolesnika u inozemstvo te tako reducirali troškove.
Introduction In children, congenital heart defects represent the primary cause of increased serum troponin I. The elimination process of cardiac troponin I from the bloodstream and the factors ...influencing this process remain unknown. The objective of this study was to explore the role of troponin I as an indicator of cardiac damage in children both in serum and urine, a concept previously investigated in adults. Methods Our prospective study involved 70 children under 24 months of age. The first group underwent ventricular septal defect repair, while the second group involved children who had undergone partial cavopulmonary anastomosis. For these groups, urine and serum troponin I were assessed on four occasions. The third group, consisting of healthy children, underwent a single measurement of urine troponin I. Results Serum troponin I values exhibited an expected elevation in the early postoperative period, followed by a return to lower levels. Significantly higher concentrations of serum troponin I were observed in the first group of children ( p < 0.05). A positive correlation was found between troponin I in the first three measurements and cardiopulmonary bypass and aortic cross-clamping time. There was no discernible increase in urine troponin I directly related to myocardial damage; troponin I couldn't be detected in most urine samples. Discussion The inability to detect troponin I in urine remains unexplained. Potential explanatory factors may include the isoelectric point of troponin I, elevated urinary concentrations of salts and urea, variations in urine acidity (different pH levels), and a relatively low protein concentration in urine.
Background: The prevalence of heart failure is constantly increasing in both children and adults. End-stage heart failure in children unresponsive to medical therapy has limited treatment options. ...Surgical options include heart transplantation or implantation of durable ventricular assist devices (VADs). To start the VAD program, it was necessary to train core team members, invite experienced proctors and adjust the organizational approach. Methods: We present our first seven pediatric patients who underwent a VAD implantation with primary indication end-stage dilated cardiomyopathy. Results: The median age on implant was four and a half years and the median duration of VAD support was 39 days with long term survival achieved in three patients. The causes of death were multiorgan failure, thromboembolic events, sepsis, and low cardiac output syndrome. Ischemic stroke was the reason for successful neurointervention during VAD support in two patients. Conclusions: To establish a VAD program, numerous specialties must be included with adequate training and learning for all team members.
Cilj je ovog izvješća u proteklom trogodišnjem razdoblju (2019–2022) prikazati: 1) aktivnosti Referentnog centra, 2) postignute stručne rezultate i primjenu novih metoda, postupaka i unaprjeđenje ...struke, i 3) znanstvenu i stručnu suradnju s inozemnim ustanovama visoke razine. Rezultati: Referentni je centar jedino mjesto u Republici Hrvatskoj koje kontinuirano zbrinjava populaciju najugroženijih i najtežih bolesnika pedijatrijske dobi sa srčanom patologijom. Ima kontinuirano, 24 sata dostupnu kardiološku, kardiokiruršku, anesteziološku, neonatalnu i intenzivnu skrb za djecu sa složenim prirođenim i stečenim srčanim bolestima. Također su dostupne metode nadomještanja funkcije organa u zatajivanju (ECMO potpora, LVAD-BiVAD, Berlin-Heart pumpa, hemodijaliza, program transplantacije srca / drugih organa), a sve zahvaljujući timskom radu i suradnji tima nekoliko Zavoda. Izvode se složene kardiokirurške operacije u djece s prirođenim srčanim greškama uz jasan trend povećanja broja i složenosti operacija, te uz i dalje prihvatljivo nisku smrtnost. Danas smo u mogućnosti samostalno liječiti gotovo sve srčane bolesti u djece. Godišnje se izvede oko 200 kateterizacija srca u djece. Više od 40% čine intervencijske procedure, a više od 50% tih intervencija izvodi se u dojenačkom periodu. Tijekom protekle tri godine uvedeno je pet novih perkutanih intervencijskih metoda: liječenje nativne koarktacije i rekoarktacije umetanjem stenta, liječenje stenoze pulmonalnih grana umetanjem stenta, perkutano umetanje valvule na pulmonalnu poziciju, dilatacija postojećeg stenta te zatvaranje aortopulmonalnih kolaterala u djece s univentrikulskim srcem. Navedeni iskoraci učinjeni su kontinuiranim zalaganjem članova tima uz potporu i mentorstvo, odnosno kontinuiranu suradnju s inozemnim stručnjacima iz triju inozemnih ustanova (DeutschesHerzZentrum Muenchen, KinderherzZentrum Linz, Kids Heart Center Budapest). Zaključak: Naš centar stoji uz bok rijetkih centara u Europi koji su u mogućnosti izvesti navedene procedure. Navedene su aktivnosti rezultirale unaprjeđenjem kvalitete skrbi na razini RH i temelj su za daljnji planirani rast i razvoj struke u okvirima naše zemlje.
IntroductionAlagille syndrome is an autosomal dominant disorder that primarily affects the liver and heart. The genetic basis for the development of the syndrome is a mutation in the JAG1 gene (in ...most cases) or the NOTCH2 receptor. The syndrome is clinically characterized by chronic cholestasis, congenital heart defect (most often pulmonary stenosis), abnormalities in the skeletal system (‘butterfly’ vertebrae), changes on the eyes (posterior embryotoxon) and characteristic phenotype. The prevalence of the syndrome is estimated at 1:30 000 live births.Case ReportWe will present a male infant aged 10 months with a diagnosis of Alagille syndrome. The boy was born from his mother’s first, regularly controlled pregnancy. The boy was vital at birth with mild neonatal jaundice. On the third day of life, a systolic murmur was observed over the precordium, louder along the left edge of the sternum, and a diagnosis of tetralogy of Fallot was made by echocardiography. During the next examination, at the age of one month, the classic form of tetralogy of Fallot was verified by ultrasound with infundibular and valvular stenosis of the pulmonary artery with ultrasound pressure gradient over pulmonary stenosis of about 50 mmHg. The infant, then at the age of 4 months, underwent invasive cardiac procedure during the next hospitalization, showing pulmonary branches: the initial part of the right branch was 5 mm, followed by a fully hypoplastic right branch (3 mm) with middle segment stenosis up to 2 mm; the left branch is even more hypoplastic, entirely 2.2 mm with 2 mm segments. According to the finding, surgery was performed to establish an aortic-pulmonary anastomosis in the form of an mBT (modified Blalock Taussig) compound. In addition to cardiac processing, elevated levels of liver transaminases, primarily GGT enzymes, were observed in the findings. Due to the justified suspicion of Alagille’s syndrome (tetralogy of Fallot with elevated liver transaminases), an X-ray of the spine was performed, where the fusion of the bodies of the Th6 and Th8 vertebrae was found, the so-called ‘butterfly’ vertebrae. Among other things, an ophthalmological examination was performed where the posterior embryotoxon of both eyes was observed. Complete processing met the higher diagnostic criteria for Alagille’s syndrome, and therefore genetic analysis was requested, which confirmed the heterozygous variant in the JAG1 gene and diagnosed Alagille’s syndrome. During the last hospitalization, cardiac catheterization was performed, which still showed hypoplastic pulmonary branches with a narrow mBT joint.Discussion/ConclusionAlthough pulmonary stenosis is the most common heart defect within Alagille syndrome, tetralogy of Fallot with hypoplasia of the pulmonary branches may also be one of the clinical manifestations. Since the pulmonary branches are still hypoplastic in our patient after aorthopulmonary anastomosis, in the idea of better pulmonary blood supply, dilatation of the pulmonary valve with a balloon was performed for better anterograde flow until a decision on further treatment modality.
Abstract Cardiac myxomas are rare benign and slowly proliferating neoplasms of uncertain histogenesis with heterogeneous histomorphology and variable and sometimes clinically quite malignant ...pathological manifestations. Majority of cardiac myxoma occur sporadically while a relatively small proportion of diagnosed cases develop as a part of Carney complex syndrome with established familial pattern of inheritance. Although histologically indistinguishable these two forms of cardiac myxoma exhibit distinct cytogenetic make-up and apparent pathological differences important for their clinical presentation and prognosis. Additional problem is presented with secondary lesions with more aggressive histology and significantly faster cell proliferation suggesting their successive malignant alteration. Surgical resection of cardiac myxoma is currently the only treatment of choice. However, to avoid potentially hazardous operating procedures and possible postoperative complications and to prevent recurrence of the neoplastic lesions it is necessary to develop alternative approaches and identify a possible drug targets for their successful pharmacological treatment. Due to the rarity of the disease, a small number of cases in one institution and lack of comprehensive experimental data particularly concerning the cases of metastatic dissemination and secondary lesions with malignant nature, a comprehensive multi-institutional approach is required for better understanding of their molecular pathology and illumination of key molecular, genetic as well as epigenetic markers and regulatory pathways responsible for their development. In this article we provide comprehensive pathohistological, molecular and cytogenetic overview of sporadic cardiac myxoma cases restating the major hypothesis concerning their histogenesis and emphasizing potential approaches for their further reexamination.
Introduction:
Extracorporeal membrane oxygenation (ECMO) is an important treatment option for organ support in respiratory insufficiency, cardiac failure, or as an advanced tool for cardiopulmonary ...resuscitation. Reports on pediatric ECMO use in our region are lacking.
Methods:
This study is a retrospective review of all pediatric cases that underwent a veno-arterial (VA) or veno-venous (VV) ECMO protocol between November 2009 and August 2020 at the Department of Pediatrics, University Hospital Center Zagreb, Croatia.
Results:
Fifty-two ECMO runs identified over the period; data were complete for 45 cases, of which 23 (51%) were female, and median age was 8 months. Thirty-eight (84%) patients were treated using the VA-and 7 (16%) using VV-ECMO. The overall survival rate was 51%. Circulatory failure was the most common indication for ECMO (N = 38, 84%), and in 17 patients ECMO was started after cardiopulmonary resuscitation (E-CPR). Among survivors, 74% had no or minor neurological sequelae. Variables associated with poor outcome were renal failure with renal replacement therapy (p < .001) and intracranial injury (p < .001).
Conclusion
Overall survival rate in our cohort is comparable to the data published in the literature. The use of hemodialysis was shown to be associated with higher mortality. High rates of full neurological recovery among survivors are a strong case for further ECMO program development in our institution.
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