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Impairments of the genes that encode enzymes that are involved in one-carbon metabolism because of the presence of gene polymorphisms can affect the methylation pattern. The altered methylation profiles of the genes involved in cardiogenesis may result in congenital heart defects (CHDs). The aim of this study was to investigate the association between the MTHFR rs1801133, MTHFR rs1801131, MTRR rs1801394, DNMT1 rs2228611, DNMT3A rs1550117, DNMT3B rs1569686, and DNMT3B rs2424913 gene polymorphisms and congenital heart defects in Down syndrome (DS) individuals. The study was conducted on 350 participants, including 134 DS individuals with CHDs (DSCHD+), 124 DS individuals without CHDs (DSCHD−), and 92 individuals with non-syndromic CHD. The genotyping was performed using the PCR–RFLP method. A statistically significant higher frequency of the DNMT3B rs2424913 TT in the DSCHD+ individuals was observed. The DNMT3B rs2424913 TT genotype, as well as the T allele, had significantly higher frequencies in the individuals with DS and atrial septal defects (ASDs) in comparison with the individuals with DS and other CHDs. Furthermore, our results indicate a statistically significant effect of the DNMT3B rs1569686 TT genotype in individuals with non-syndromic CHDs. The results of the study suggest that the DNMT3B rs2424913 TT genotypes may be a possible predisposing factor for CHDs in DS individuals, and especially those with ASDs.

Koarktacija aorte ( CoA ) je prirođena srčana greška (PSG) kod koje suženje torakalne aorte neposredno iza polazišta lijeve subklavijalne arterije, nasuprot spoja s duktusom arteriozusom rezultira opstrukcijom protoka krvi i tlačnim opterećenjem lijeve klijetke. CoA čini 4 do 6% od svih PSG. Klinički se manifestira znakovima srčanog zatajenja u novorođenačkom i ranom dojenačkom razdoblju, a kasnije najčešće arterijskom hipertenzijom i šumom nad srcem. Način liječenja CoA ovisi o kliničkoj prezentaciji, tipu koarktacije, pridruženim srčanim anomalijama i dobi djeteta. Terapijske opcije liječanja CoA uključuju kardiokirurgiju, balonsku angioplastiku i angioplastiku s ugradnjom stenta., Coarctation of the aorta (CoA) is congenital heart defect (CHD) in which narrowing of thoracic aorta is typically located at the insertion of the ductus arteriosus just distal to left subclavian artery. This obstruction results in left ventricular pressure overload. CoA accounts for 4 to 6 percent of all CHD. Clinical manifestations of CoA are heart failure in neonates and infants and usually arterial hyperthension and heart murmur in older infants and children. Management of CoA depends on clinical presentation, type of CoA, assosiated heart defects and age. Treatment options are surgery, baloon angioplasty and stent insertion.

We report a development of severe haemolysis after complete transcatheter closure of patent arterial duct. Aortography and echocardiography revealed no signs of residual shunt. Haemolysis occurred a day after the implantation. Aortography was performed and the extrusion of coil in aorta was evident. The extruded part of the coil was surgically removed. No signs of haemolysis remained.

Although umbilical venous catheterization is a routine procedure in premature newborns, it is associated with various, potentially life threatening, complications. We present a case of a premature baby diagnosed with a hepatic parenchymal liquid collection as a complication of umbilical vein catheterization in our Neonatal Intensive Care Unit. The child was born in the 25th gestational week (GW) and was doing well until the12th day of life when his general condition deteriorated. He appeared anxious and his oxygen saturation (SaO2) decreased. There was slight abdominal distension and tenderness over the abdominal wall, with weak bowel movements, and a palpable liver. Abdominal ultrasound (US) showed an enlarged liver with a well-defined hypoechoic area, with inhomogeneous echogenicity. Such findings were suggestive of fluid extravasation to the liver through a malpositioned umbilical venous catheter. The umbilical catheter was withdrawn, antimicrobial treatment initiated, and eventual complete regression of the collection was seen eleven days after extravasation. Rapid, unexplained clinical deterioration of a newborn with an umbilical vein catheter should always raise the suspicion of a complication due to catheterization. Such a catheter should be carefully revised and, if there is any doubt, removed. Timely diagnosis and adequate treatment is essential, and potentially life-saving.

Objective. To present the case of an infant with a catheter related atrial thrombus resolved with local instillation of alteplase. Clinical presentation. Echocardiography (ECHO) was performed in an infant with sepsis to estimate cardiac contractility, and a large mobile thrombus (28 x 8 mm) was detected in the right atrium. A left subclavian, double lumen, central venous line (CVL, 4 French, 8 cm), inserted 10 weeks previously, was left in place. Standard treatment with enoxaparine was commenced twice daily for 10 days at a dose of 1 mg/kg. Repeat ECHO showed no changes in thrombus size or mobility. Therefore, alteplase was administered into the distal catheter (1 mg in normal saline) at a dose of 110% of its priming volume. The dwelling time was 2 hours. Since no changes in thrombus size were observed, the same dose was given into the proximal catheter. ECHO performed 24 hours later showed a significant reduction in thrombus size. The third dose of alteplase was administered into the proximal catheter. ECHO showed complete dissolution of the right atrial thrombus. No bleeding was observed during and following therapy, and there were no signs of hemodynamic instability. The CVL was safely removed the same day and no endoluminal thrombus was seen. Conclusion. Local instillation of alteplase in three doses was a safe and effective approach to the management of a large catheter-related intraatrial thrombus. Systemic thrombolytic therapy, associated with an increased risk of bleeding, and open heart surgery were avoided.

Cilj: Ekstrofija mokraćnog mjehura - epispadija kompleks obuhvaća prirođene anomalije središnje linije tijela koje nastaju zbog nezatvaranja infraumbilikalnog dijela prednje trbušne stijenke uključivši zdjelicu, urogenitalni i gastrointestinalni sustav te kralježnicu. Cilj ovog rada je prikaz djevojčice sa ekstrofijom mokraćnog mjehura i epispadijom u kombinaciji sa atrijskim septalnim defektom i pregled novih spoznaja u etiologiji ekstrofija mokraćnog mjehura - epispadija kompleksa. Prikaz slučaja: Djevojčica je rođena sa rascjepom donjeg dijela trbušne stijenke od pupka do spolovila sa dijastazom simfiza, ekstrofijom mokraćnog mjehura, nisko postavljenom pupkovinom koja izlazi iz vrha mjehura i dvosmislenim spolovilom zbog prisutne epispadije i rascjepa klitorisa. Sluznica mokraćnog mjehura bila je okrenuta prema van, a otvori uretera prohodni. U djeteta nije prisutna kraniofacijalna dismorfija osim blago razmaknute sagitalne suture. Klasičnom citogenetičkom analizom limfocita periferne krvi utvrđen je uredan ženski kariotip (46,XX). Ehokardiografijom s Dopplerom otkriven je atrijski septalni defekt, no zbog minimalnog hemodinamskog učinka terapija srčane mane za sada nije potrebna. Rasprava: Iako se EME kompleks obično smatra izoliranim poremećajem, anomalije izvan klasično zahvaćenih regija u sklopu ekstrofija mokraćnog mjehura - epispadija kompleksa su opisane, no iznimno su rijetke. Prema našim saznanjima ovo je peti opisani slučaj prisutnosti prirođene srčane mane, odnosno drugi slučaj prisutnosti atrijskog septalnog defekta u kombinaciji sa ekstrofijom mokraćnog mjehura i epispadijom. Novija istraživanja i rijetki klinički slučajevi pokazuju kako postoje vrlo rijetki oblici navedenog kompleksa koji uključuju ostale poremećaje razvoja središnjeg dijela tijela i da istovremena pojava srčanih mana ili rascjepa orofacijalne regije nije slučajna pojava već patogenetski povezan mehanizam koji je moguće genetički reguliran., Aim: Bladder exstrophy-epispadias complex (BEEC) comprises a group of congenital midline defects which result from the failure of fusion of the entire infraumbilical abdominal wall including musculoskeletal structures of the pelvis, urogenital and gastrointestinal system and the spine. The aim of this paper is to present a case of a girl with bladder exstrophy and epispadias in combination with atrial septal defect and to provide a review of recent discoveries in the etiology of bladder exstrophy-epispadias complex. Case report: The girl was born with a defect in the anterior abdominal wall from umbilicus to genitalia with widely separated pubic symphyses, bladder exstrophy, low set umbilical cord which was inserted at the top of the bladder, epispadias and bifid clitoris. The urothelium of the bladder was everted through the midline defect. The child presented with no craniofacial dysmorphic features except for a mild diastasis of the sagittal suture. The cytogenetic analysis of peripheral blood lymphocytes from the patient showed a normal female karyotype (46,XX). After the complete clinical evaluation, Doppler echocardiography determined an atrial septal defect, but because of the minimal hemodynamic eff ect the therapy of the heart defect is currently not indicated. Discussion: BEEC is usually considered an isolated defect, but anomalies outside the classically affected regions in the bladder exstrophy-epispadias complex, although extremely rare, have been described. To our knowledge this is the fifth described case of congenital heart defect and the second case of atrial septal defect in combination with bladder exstrophy and epispadias. New research shows that there might be rare forms of BEEC which include other congenital defects of the midline and that the presence of heart defects or orofacial clefts is not a random event but a pathogenetically related mechanism which might be under genetic control.

The article describes the perioperative and postoperative management of a child with hereditary angioedema needing cardiac surgery using cardiopulmonary bypass.

The authors are presenting a case of a female infant with a large congenital laryngeal cyst. After operation, tracheomalacia with inspiratory stridor has been noticed.