AIMS: To evaluate the prevalence, long-term mortality, and clinical characteristics in total cavopulmonary connection patients with excellent functional outcomes. METHODS AND RESULTS: A retrospective study of cardiopulmonary exercise test results in 288 patients after total cavopulmonary connection from a single-centre nationwide database. A subgroup of 88 (30.6%) patients (45 women; 51.1%), at a median age 13.0 [interquartile range 11.0; 18.0] years achieved ≥80% of predicted VO2peak value (Super-Fontan phenotype). Survival free from death or heart transplantation 20 years after surgery was 100.0% in the Super-Fontan group versus 94.0% in the rest of the cohort (p = 0.04). Super-Fontan patients were younger, had lower body mass index, lower regurgitant fraction on atrioventricular valve, and larger preoperative McGoon ratio than the rest of the cohort (p = 0.002, p < 0.0001, p = 0.004, and p = 0.04, respectively). Females and tricuspid atresia patients were significantly more prevalent in the Super-Fontan group than in the rest of the cohort (p = 0.02 for both). There was no difference regarding systemic ventricle morphology, fenestration presence, or ejection fraction of systemic ventricle between the Super-Fontan group and the rest of the total cavopulmonary connection cohort (p = 0.06, p = 0.09, and p = 0.64, respectively). CONCLUSIONS: The subgroup of Super-Fontan patients has unique clinical characteristics when compared to the rest of the total cavopulmonary connection nationwide cohort. Besides superior VO2peak results, Super-Fontan patients tend to have lower long-term mortality, body mass index, and atrioventricular valve, greater preoperative pulmonary dimensions, and a higher prevalence of females and tricuspid atresia patients. There was no variance in morphology of the systemic ventricle, or presence of fenestration.

• Klíčová slova
• Exercise tolerance, Fontan circulation, Super-Fontan, peak oxygen consumption, total cavopulmonary connection,
• MeSH
• dítě MeSH
• Fontanova operace * MeSH
• lidé MeSH
• míra přežití trendy   MeSH
• mladiství MeSH
• prevalence MeSH
• retrospektivní studie MeSH
• rizikové faktory MeSH
• trikuspidální atrézie chirurgie   mortalita   MeSH
• vrozené srdeční vady * chirurgie   mortalita   MeSH
• zátěžový test * MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

OBJECTIVES: The use of ventricular assist devices (VADs) in children is increasing. However, absolute numbers in individual centres and countries remain small. Collaborative efforts such as the Paedi-European Registry for Patients with Mechanical Circulatory Support (EUROMACS) are therefore essential for combining international experience with paediatric VADs. Our goal was to present the results from the fourth Paedi-EUROMACS report. METHODS: All paediatric (<19 years) patients from the EUROMACS database supported by a VAD were included. Patients were stratified into a congenital heart disease (CHD) group and a group with a non-congenital aetiology. End points included mortality, a transplant and recovery. Cox proportional hazard models were used to explore associated factors for mortality, cerebrovascular accident and pump thrombosis. RESULTS: A total of 590 primary implants were included. The congenital group was significantly younger (2.5 vs 8.0 years, respectively, P < 0.001) and was more commonly supported by a pulsatile flow device (73.5% vs 59.9%, P < 0.001). Mortality was significantly higher in the congenital group (30.8% vs 20.4%, P = 0.009) than in the non-congenital group. However, in multivariable analyses, CHD was not significantly associated with mortality [hazard ratio (HR) 1.285; confidence interval (CI) 0.8111-2.036, P = 0.740]. Pump thrombosis was the most frequently reported adverse event (377 events in 132 patients; 0.925 events per patient-year) and was significantly associated with body surface area (HR 0.524, CI 0.333-0.823, P = 0.005), CHD (HR 1.641, CI 1.054-2.555, P = 0.028) and pulsatile flow support (HR 2.345, CI 1.406-3.910, P = 0.001) in multivariable analyses. CONCLUSIONS: This fourth Paedi-EUROMACS report highlights the increasing use of paediatric VADs. The patient populations with congenital and non-congenital aetiologies exhibit distinct characteristics and clinical outcomes.

• Klíčová slova
• EUROMACS, Mechanical circulatory support, Paediatric, Transplantation, Ventricular assist device,
• MeSH
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• novorozenec MeSH
• podpůrné srdeční systémy * statistika a číselné údaje   škodlivé účinky   MeSH
• předškolní dítě MeSH
• registrace * statistika a číselné údaje   MeSH
• srdeční selhání * mortalita   chirurgie   MeSH
• vrozené srdeční vady * chirurgie   mortalita   MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• multicentrická studie MeSH
• Geografické názvy
• Evropa epidemiologie   MeSH

Epidermal growth factor receptor (EGFR) is a transmembrane glycoprotein with tyrosine-kinase signaling activity, involved in many cellular functions including cell growth and differentiation. Germ line loss-of-function mutations in EGFR lead to a severe neonatal skin disorder (Online Mendelian Inheritance in Man #131550). We report 18 premature Roma children from 16 families with birthweights ranging 440-1470 g and multisystem diseases due to the homozygous mutation c.1283G˃A (p.Gly428Asp) in EGFR. They presented with thin, translucent, fragile skin (14/15), skin desquamation (10/17), ichthyosis (9/17), recurrent skin infections and sepsis (9/12), nephromegaly (10/16) and congenital heart defects (7/17). Their prognosis was poor, and all died before the age of 6 months except one 13-year-old boy with a severe skin disorder, dentinogenesis imperfecta, Fanconi-like syndrome and secondary hyperaldosteronism. Management of ion and water imbalances and extremely demanding skin care may improve the unfavorable outcome of such patients.

• Klíčová slova
• epidermal growth factor receptor, ichthyosis, neonate, nephrocutaneous syndrome, progeria,
• MeSH
• dentinogenesis imperfecta diagnóza   genetika   mortalita   MeSH
• dítě MeSH
• erbB receptory nedostatek   genetika   MeSH
• homozygot MeSH
• ichtyóza diagnóza   genetika   mortalita   MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mutace ztráty funkce MeSH
• nemoci ledvin vrozené   diagnóza   genetika   mortalita   MeSH
• novorozenec nedonošený MeSH
• novorozenec s velmi nízkou porodní hmotností MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• Romové genetika   MeSH
• sekvenování exomu MeSH
• stupeň závažnosti nemoci MeSH
• syndrom MeSH
• vrozené srdeční vady diagnóza   genetika   mortalita   MeSH
• Check Tag
• dítě MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• novorozenec MeSH
• předškolní dítě MeSH
• Publikační typ
• časopisecké články MeSH
• pozorovací studie MeSH
• Geografické názvy
• Česká republika epidemiologie   MeSH
• Slovenská republika epidemiologie   MeSH
• Názvy látek
• EGFR protein, human MeSH Prohlížeč
• erbB receptory MeSH

OBJECTIVES: To assess international trends and patterns of prenatal diagnosis of critical congenital heart defects (CCHDs) and their relation to total and live birth CCHD prevalence and mortality. SETTING: Fifteen birth defect surveillance programmes that participate in the International Clearinghouse for Birth Defects Surveillance and Research from 12 countries in Europe, North and South America and Asia. PARTICIPANTS: Live births, stillbirths and elective terminations of pregnancy for fetal anomaly diagnosed with 1 of 12 selected CCHD, ascertained by the 15 programmes for delivery years 2000 to 2014. RESULTS: 18 243 CCHD cases were reported among 8 847 081 births. The median total prevalence was 19.1 per 10 000 births but varied threefold between programmes from 10.1 to 31.0 per 10 000. CCHD were prenatally detected for at least 50% of the cases in one-third of the programmes. However, prenatal detection varied from 13% in Slovak Republic to 87% in some areas in France. Prenatal detection was consistently high for hypoplastic left heart syndrome (64% overall) and was lowest for total anomalous pulmonary venous return (28% overall). Surveillance programmes in countries that do not legally permit terminations of pregnancy tended to have higher live birth prevalence of CCHD. Most programmes showed an increasing trend in prenatally diagnosed CCHD cases. DISCUSSION AND CONCLUSIONS: Prenatal detection already accounts for 50% or more of CCHD detected in many programmes and is increasing. Local policies and access likely account for the wide variability of reported occurrence and prenatal diagnosis. Detection rates are high especially for CCHD that are more easily diagnosed on a standard obstetric four-chamber ultrasound or for fetuses that have extracardiac anomalies. These ongoing trends in prenatal diagnosis, potentially in combination with newborn pulse oximetry, are likely to modify the epidemiology and clinical outcomes of CCHD in the near future.

• Klíčová slova
• critical congenital heart defects, epidemiology, prenatal diagnosis,
• MeSH
• lidé MeSH
• novorozenec MeSH
• prenatální diagnóza * statistika a číselné údaje   trendy   MeSH
• prevalence MeSH
• retrospektivní studie MeSH
• těhotenství MeSH
• vrozené srdeční vady diagnóza   epidemiologie   mortalita   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• novorozenec MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Asie epidemiologie   MeSH
• Evropa epidemiologie   MeSH
• Jižní Amerika epidemiologie   MeSH
• Severní Amerika epidemiologie   MeSH

AIM: To study congenital heart defects (CHDs), evaluate their relation to extra-cardiac pathologies, and assess the significance of prenatal diagnostics for heart diseases. METHODS: Data from 1999-2017 were analyzed for the incidence of significant CHDs in fetuses (prenatal ultrasound/echocardiography) and children, including, where applicable, autopsy data and genetic evaluation. RESULTS: Among 220,400 fetuses, 819 (3.7 cases per 1000) significant CHDs were observed. Of the total, 53% (435/819) of CHDs were diagnosed prenatally. The heart defect was an isolated impairment in 78% (640/819), associated with a genetic impairment in 16% (128/819), and with extra-cardiac malformations without genetic pathology in 6% (51/819). Chromosomal aberrations were diagnosed prenatally in 70% (90/128) of those affected and extra-cardiac conditions in 86% (44/51). The CHD and genetic pathology association was more frequent prenatally [21% (90/435) vs. postnatally: 10% (38/384; P<0.0001)], as was the association between CHD with other extra-cardiac pathology and a normal karyotype [prenatally: 10% (44/435) vs. postnatally: 2% (7/384; P<0.0001)]. CONCLUSION: Heart defects are most frequently isolated, with genetic and other extra-cardiac anomalies in about one third of cases, significantly linked to prenatal diagnostics.

• Klíčová slova
• aneuploidy, congenital heart defect, extracardiac malformation, fetal echocardiography, genetic abnormality, screening,
• MeSH
• chromozomální aberace embryologie   MeSH
• echokardiografie MeSH
• gestační stáří MeSH
• incidence MeSH
• lidé MeSH
• novorozenec MeSH
• pitva MeSH
• prenatální diagnóza * statistika a číselné údaje   MeSH
• retrospektivní studie MeSH
• těhotenství MeSH
• ultrasonografie prenatální MeSH
• vrozené srdeční vady diagnostické zobrazování   embryologie   mortalita   MeSH
• výsledek těhotenství MeSH
• Check Tag
• lidé MeSH
• novorozenec MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH

OBJECTIVE: The objective of this European multicenter study was to report surgical outcomes of Fontan takedown, Fontan conversion and heart transplantation (HTX) for failing Fontan patients in terms of all-cause mortality and (re-)HTX. METHODS: A retrospective international study was conducted by the European Congenital Heart Surgeons Association among 22 member centres. Outcome of surgery to address failing Fontan was collected in 225 patients among which were patients with Fontan takedown (n=38; 17%), Fontan conversion (n=137; 61%) or HTX (n=50; 22%). RESULTS: The most prevalent indication for failing Fontan surgery was arrhythmia (43.6%), but indications differed across the surgical groups (p<0.001). Fontan takedown was mostly performed in the early postoperative phase after Fontan completion, while Fontan conversion and HTX were mainly treatment options for late failure. Early (30 days) mortality was high for Fontan takedown (ie, 26%). Median follow-up was 5.9 years (range 0-23.7 years). The combined end point mortality/HTX was reached in 44.7% of the Fontan takedown patients, in 26.3% of the Fontan conversion patients and in 34.0% of the HTX patients, respectively (log rank p=0.08). Survival analysis showed no difference between Fontan conversion and HTX (p=0.13), but their ventricular function differed significantly. In patients who underwent Fontan conversion or HTX ventricular systolic dysfunction appeared to be the strongest predictor of mortality or (re-)HTX. Patients with valveless atriopulmonary connection (APC) take more advantage of Fontan conversion than patients with a valve-containing APC (p=0.04). CONCLUSIONS: Takedown surgery for failing Fontan is mostly performed in the early postoperative phase, with a high risk of mortality. There is no difference in survival after Fontan conversion or HTX.

• MeSH
• časové faktory MeSH
• dítě MeSH
• dospělí MeSH
• Fontanova operace škodlivé účinky   mortalita   MeSH
• Kaplanův-Meierův odhad MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• pooperační komplikace diagnóza   mortalita   patofyziologie   chirurgie   MeSH
• předškolní dítě MeSH
• proporcionální rizikové modely MeSH
• retrospektivní studie MeSH
• rizikové faktory MeSH
• terapie neúspěšná MeSH
• transplantace srdce * škodlivé účinky   mortalita   MeSH
• vrozené srdeční vady diagnóza   mortalita   chirurgie   MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• kojenec MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• multicentrická studie MeSH
• pozorovací studie MeSH
• Geografické názvy
• Evropa MeSH

BACKGROUND: As a result of improved diagnostic methods, medical treatment, surgical correction, and palliation in childhood, there is a growing number of adult patients with congenital heart disease (CHD) who may experience heart failure and subsequently require heart transplantation (HT). Because of complex anatomy, previous operations, and frequently increased pulmonary vascular resistance (PVR), these patients represent a group with a higher risk of early mortality after transplantation. METHODS: From May 1999 to December 2014, our institution performed 25 HTs in adult patients with end-stage CHD. We present our data and outcomes of transplantation in this group. RESULTS: The median age at transplantation was 38 years (range, 18.4-53.7 years). Survival was 88% at 30 days, 88% at 1 year, and 77% at 5 years. We identified long donor heart ischemic time (>4 hours) as an important risk factor for early mortality. There was no significant difference in the survival of patients undergoing transplantation for CHD and patients undergoing transplantation for other diagnoses. CONCLUSIONS: With careful donor and recipient selection, adults with end-stage CHD undergoing HT can achieve excellent early and midterm survival, comparable to the survival of patients who undergo transplantation for other diagnoses.

• MeSH
• dospělí MeSH
• Kaplanův-Meierův odhad MeSH
• lidé středního věku MeSH
• lidé MeSH
• míra přežití MeSH
• mladiství MeSH
• mladý dospělý MeSH
• nemoci srdce mortalita   chirurgie   MeSH
• peroperační komplikace mortalita   MeSH
• pooperační komplikace mortalita   MeSH
• rizikové faktory MeSH
• studená ischemie MeSH
• transplantace srdce * mortalita   MeSH
• vrozené srdeční vady mortalita   chirurgie   MeSH
• výběr dárců MeSH
• výběr pacientů MeSH
• výsledek terapie MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mladý dospělý MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• srovnávací studie MeSH
• Geografické názvy
• Česká republika epidemiologie   MeSH

Natriuretic peptides are often elevated in congenital heart disease (CHD); however, the clinical impact on mortality is unclear. The aim of our study was to evaluate the prognostic value of N-terminal pro-brain natriuretic peptide (NT-proBNP) in the prediction of all-cause mortality in adults with different CHD. In this prospective longitudinal mortality study, we evaluated NT-proBNP in 1,242 blood samples from 646 outpatient adults with stable CHD (mean age 35 ± 12 years; 345 women). Patients were followed up for 6 ± 3 (1 to 10) years. The mortality rate was 5% (35 patients, mean age 40 ± 14 years, 17 women). Median NT-proBNP (pg/ml) was 220 in the whole cohort, 203 in survivors, and 1,548 in deceased patients. The best discrimination value for mortality prediction was 630 pg/ml with 74% sensitivity and 84% specificity. During the follow-up, the survival rate was 65% for those with median NT-proBNP ≥630 pg/ml and 94% for NT-proBNP <630 pg/ml; p <0.0001. There was only 1% mortality among 388 patients with at least 1 NT-proBNP value ≤220 pg/ml compared with 41% mortality among 54 patients with at least 1 NT-proBNP value >1,548 pg/ml. Even the first (baseline) measurements of NT-proBNP were strongly associated with a high risk of death (log10 NT-proBNP had hazard ratio 7, p <0.0001). In conclusion, NT-proBNP assessment is a useful and simple tool for the prediction of mortality in long-term follow-up of adults with CHD.

• MeSH
• biologické markery krev   MeSH
• dospělí MeSH
• hodnocení rizik MeSH
• Kaplanův-Meierův odhad MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• následné studie MeSH
• natriuretický peptid typu B krev   MeSH
• peptidové fragmenty krev   MeSH
• prediktivní hodnota testů MeSH
• prognóza MeSH
• prospektivní studie MeSH
• rizikové faktory MeSH
• senioři MeSH
• senzitivita a specificita MeSH
• vrozené srdeční vady krev   diagnóza   mortalita   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• biologické markery MeSH
• natriuretický peptid typu B MeSH
• peptidové fragmenty MeSH
• pro-brain natriuretic peptide (1-76) MeSH Prohlížeč

BACKGROUND: Increasing number of adults with congenital heart disease (ACHD) require reoperation or primary repair. To define risk and outcome of operations of ACHD performed in adult cardiac surgery. METHODS: Between 2005-2010 we operated on 459 patients with ACHD, aged 40.4 +/- 15 years. Operations of ACHD represented 9.5% of 4854 cardiac operations in our department. RESULTS: The 30-days mortality was 1.1%, hospital mortality was 1.52%, long-term mortality among discharged patients was 1.3%. Reoperations after surgery in childhood represented 39%, repeated reoperations 9%, operations of 3 or 4 valves 2.6%. Robotic surgery or minithoracotomy was performed in 9%. Pulmonary hypertension was present in 11.3%, NYHA III-IV in 30%. The risk factors of mortality were: NYHA class III-IV (p < 0.001), cyanosis (p < 0.001), severe systolic dysfunction of left (p = 0.006) or right ventricle (p < 0.001).We did not confirm increased risk in older patients, women, pulmonary hypertension, reoperations and operations of 3-4 valves. CONCLUSIONS: Excellent surgical results among older adults with CHD were achieved by the co-operation of paediatric cardiac surgeon within the experienced centre for adult cardiac surgery. The highest risk was found in patients with NYHA class Ill-IV, cyanosis and ventricular dysfunction.

• MeSH
• dospělí MeSH
• lidé MeSH
• miniinvazivní chirurgické výkony MeSH
• míra přežití MeSH
• rizikové faktory MeSH
• robotika MeSH
• vrozené srdeční vady mortalita   chirurgie   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH

OBJECTIVE: To determine the prevalence and spectrum of congenital heart disease (CHD) and the impact of a national prenatal ultrasound screening programme on outcome in a well-characterised population. DESIGN AND SETTING: A comprehensive registry was created of all paediatric and fetal patients with CHD over a 21-year period (1986-2006) in the Czech Republic. The centralised healthcare system enabled confirmation of prenatal and postnatal findings clinically and by post mortem. PATIENTS AND RESULTS: In the entire cohort of 9475 fetuses referred for detailed cardiac evaluation, 1604 (16.9%) had CHD, of which 501 (31.2%) had additional extracardiac anomalies. In the pregnancies which continued, 59 (8.6%) of 685 fetuses died in utero, and 626 (91.4%) babies were born alive. Prenatal detection rate was highest in double outlet right ventricle (77.3%) and hypoplastic left heart (50.6%). Detection rate increased significantly (p<0.001) for 12/17 lesions comparing 1986-1999 and 2000-2006. In recent years, detection of hypoplastic left heart reached 95.8% while transposition of the great arteries was diagnosed antenatally in only 25.6%. CONCLUSION: The nationwide prenatal ultrasound screening programme enabled detection of major cardiac abnormalities in 1/3 of patients born with any CHD and 80% of those with critical forms. Nevertheless, owing to the severity of lesions and associated extracardiac anomalies, the overall mortality of antenatally diagnosed CHD remains high. These findings are important for the understanding natural history of CHD for the establishing of screening programmes in Europe.

• MeSH
• echokardiografie MeSH
• fetální srdce abnormality   MeSH
• lidé MeSH
• míra přežití MeSH
• následné studie MeSH
• prevalence MeSH
• těhotenství MeSH
• ultrasonografie prenatální * MeSH
• vrozené srdeční vady diagnostické zobrazování   epidemiologie   mortalita   MeSH
• výsledek těhotenství MeSH
• Check Tag
• lidé MeSH
• těhotenství MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika epidemiologie   MeSH