Polymorphisms in LDB3 gene can cause various forms of cardiomyopathy and myofibrillar myopathy 4 (MM4). Patient described in this study presented with a hypertrophic cardiomyopathy (HCM) and distal ...myopathy suggestive of myofibrillar myopathy 4. Genetic analysis using the TruSight Cardio Sequencing Kit (Illumina) revealed suspected LDB3 variant (c.1435G>A, p.(Gly479Arg)). This is the first case in which polymorphism in LDB3 gene is likely responsible for MM4 and HCM in the same patient.Polymorphisms in LDB3 gene can cause various forms of cardiomyopathy and myofibrillar myopathy 4 (MM4). Patient described in this study presented with a hypertrophic cardiomyopathy (HCM) and distal myopathy suggestive of myofibrillar myopathy 4. Genetic analysis using the TruSight Cardio Sequencing Kit (Illumina) revealed suspected LDB3 variant (c.1435G>A, p.(Gly479Arg)). This is the first case in which polymorphism in LDB3 gene is likely responsible for MM4 and HCM in the same patient.
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.
Permanent junctional reciprocating tachycardia (PJRT) is a rare form of congenital arrhythmia occurring predominantly in infants and children. Prenatal presentation is frequently characterized by ...incessant tachycardia leading to dilated cardiomyopathy (DCM). Some patients can have a normal heart rate which leads to a delayed diagnosis. We report a case of a neonate who was presented prenatally with DCM, fetal hydrops, and no signs of fetal arrhythmia. Diagnosis of PJRT was established after delivery with characteristic electrocardiographic patterns. Successful conversion to sinus rhythm with digoxin and amiodarone was achieved three months later. At 16 months of age, both echocardiography and electrocardiography were normal.
•PJRT in fetal period can occur even at normal fetal heart rate.•Fetal dilative cardiomyopathy and hydrops should lead to a suspicion for PJRT.•Early recognition of PJRT can be facilitated by typical postnatal ECG patterns.
Our aim was to evaluate biochemical markers in plasma (NGAL, CysC) and urine (NGAL, KIM‐1) in children's early onset of acute kidney injury after congenital heart defect surgery using cardiopulmonary ...bypass. This study prospectively included 100 children with congenital heart defects who developed AKI. Patients with acute kidney injury had significantly higher CysC levels 6 and 12 h after cardiac surgery and plasma NGAL levels 2 and 6 h after cardiac surgery. The best predictive properties for the development of acute kidney injury are the combination (+CysCpl or +NGALu) after 12 h and a combination (+CysCpl and +NGALu) 6 and 24 h after cardiac surgery. We showed that plasma CysC and urinary NGAL could reliably predict the development of acute kidney injury. Measurement of early biochemical markers in plasma and urine, individually and combination, may predict the development of cardiac surgery‐associated acute kidney injury in children.
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.
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.
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.
Pregnant women with preeclampsia experience significant hemodynamic changes which lead to an increased myocardial workload. In response to increased demands in pregnancy, the heart muscle responds ...with ventricular remodeling process which involves cardiac muscle hypertrophy. Opposed to occurrence of eccentric ventricular hypertrophy in normal pregnancy, myocardial remodeling in a form of concentric hypertrophy will occur in pregnant patients with preeclampsia. Increased myocardial workload is manifested by an increased troponin release. As process of troponin degradation continue, filtration of degradation fragment through glomerular membrane occur, raising the possibility of it’s detection in urine. Degradation fragments of troponin molecules are estimated to be 20 kDa with preserved immunoreactivity to high-sensitivity assays. Some of the authors suggest that serum levels of cardiac troponin I might be elevated in patients with hypertension, as well as in preeclamptic pregnant women. It is to be expected that evaluation of severity of the myocardial damage in pregnant woman with preeclampsia may be performed by measuring levels of troponin in the urine using high-sensitivity assays. Designing of urine dipstick will help to detect an early phase of myocardial involvement in preeclamptic pregnancies.
To investigate the risk factors and the outcomes of extracorporeal membrane oxygenation (ECMO) in pediatric patients treated at the University Hospital Center Zagreb, the largest center in Croatia ...providing pediatric ECMO.
This retrospective study enrolled all the pediatric patients who required E-CPR from 2011 to 2019. Demographic data, cardiac anatomy, ECMO indications, ECMO complications, and neurodevelopmental status at hospital discharge were analyzed.
In the investigated period, E-CPR was used in 16 children, and the overall survival rate was 37.5%. Six patients were in the neonatal age group, 5 in the infant group, and 5 in the "older" group. There was no significant difference between the sexes. Four patients had an out-of-hospital arrest and 12 had an in-hospital arrest. Twelve out of 16 patients experienced renal failure and needed hemodialysis, with 4 out of 6 patients in the survivor group and 8 out of 10 in the non-survivor group. Survivors and non-survivors did not differ in E-CPR duration time, lactate levels before ECMO, time for lactate normalization, and pH levels before and after the start of ECMO.
The similarity of our results to those obtained by other studies indicates that the ECMO program in our hospital should be maintained and improved.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
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.
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