Organisation of paediatric echocardiography laboratories and governance of echocardiography services and training in Europe: current status, disparities, and potential solutions. A survey from the Association for European Paediatric and Congenital Cardiology (AEPC) imaging working group.

BACKGROUND: There is limited data on the organisation of paediatric echocardiography laboratories in Europe. METHODS: A structured and approved questionnaire was circulated across all 95 Association for European Paediatric and Congenital Cardiology affiliated centres. The aims were to evaluate: (1) facilities in paediatric echocardiography laboratories across Europe, (2) accredited laboratories, (3) medical/paramedical staff employed, (4) time for echocardiographic studies and reporting, and (5) training, teaching, quality improvement, and research programs. RESULTS: Respondents from forty-three centres (45%) in 22 countries completed the survey. Thirty-six centres (84%) have a dedicated paediatric echocardiography laboratory, only five (12%) of which reported they were European Association of Cardiovascular Imaging accredited. The median number of echocardiography rooms was three (range 1-12), and echocardiography machines was four (range 1-12). Only half of all the centres have dedicated imaging physiologists and/or nursing staff, while the majority (79%) have specialist imaging cardiologist(s). The median (range) duration of time for a new examination was 45 (20-60) minutes, and for repeat examination was 20 (5-30) minutes. More than half of respondents (58%) have dedicated time for reporting. An organised training program was present in most centres (78%), 44% undertake quality assurance, and 79% perform research. Guidelines for performing echocardiography were available in 32 centres (74%). CONCLUSION: Facilities, staffing levels, study times, standards in teaching/training, and quality assurance vary widely across paediatric echocardiography laboratories in Europe. Greater support and investment to facilitate improvements in staffing levels, equipment, and governance would potentially improve European paediatric echocardiography laboratories.

Genetics of Congenital Heart Disease: Past and Present.

Congenital heart disease is the most common congenital anomaly, representing an important cause of infant morbidity and mortality. Congenital heart disease represents a group of heart anomalies that include septal defects, valve defects, and outflow tract anomalies. The exact genetic, epigenetic, or environmental basis of congenital heart disease remains poorly understood, although the exact mechanism is likely multifactorial. However, the development of new technologies including copy number variants, single-nucleotide polymorphism, next-generation sequencing are accelerating the detection of genetic causes of heart anomalies. Recent studies suggest a role of small non-coding RNAs, micro RNA, in congenital heart disease. The recently described epigenetic factors have also been found to contribute to cardiac morphogenesis. In this review, we present past and recent genetic discoveries in congenital heart disease.

Deformation pattern and predictive value of right ventricular longitudinal strain in children with pulmonary arterial hypertension.

BACKGROUND: Right ventricular function has been identified as an important prognostic factor in children with pulmonary arterial hypertension. The aim of the study was to assess the deformation pattern and prognostic value of right ventricular longitudinal strain in children with pulmonary arterial hypertension. METHODS: We prospectively evaluated 46 children (25 with pulmonary arterial hyperetension and 21 age and sex matched controls) using conventional and speckle-tracking echocardiography, brain natriuretic peptide levels and clinical status expressed by WHO functional class and 6-min walking test. According to the clinical status after 12 months of follow-up, the pulmonary arterial hypertension patients were divided in two groups: non-worsening (13) and worsening (12). RESULTS: Right ventricular free wall longitudinal strain and strain rate were significantly lower in children with PAH compared with controls (-24.72 ± 3.48 vs -15.60 ± 3.40, p = 0.0001 and -1.44 ± 0.09 vs -1.09 ± 0.15, p = 0.0001, respectively). There was a more expressed decrease of basal than apical region of right ventricular free wall longitudinal strain/strain rate in pulmonary arterial hypertension patients compared with controls (strain: p = 0.0001 vs p = 0.07 and strain rate: p = 0.0001 vs p = 0.002). Comparing worsening and non-worsening pulmonary arterial hypertension patients there was a significant difference in Mid right ventricular free wall longitudinal strain (-14.00 ± 3.13 vs. -20.76 ± 4.62, p = 0.0001). In multivariable logistic regression analysis Mid right ventricular free wall longitudinal strain was an independent predictor of worsening in pulmonary arterial hypertension children (OR 0.45; 95 % CI: 0.21-0.96, p = 0.041). In ROC curve analysis a cut-off value of Mid right ventricular free wall longitudinal strain of -18.50 % predicted clinical worsening in pulmonary arterial hypertension children, with a sensitivity and specificity of 91.7 and 30.8 %, respectively (area under curve = 0.88 ± 0.06, 95 % CI: 0.75-1.00, p = 0.001). CONCLUSIONS: Two-dimensional speckle-tracking echocardiography is a complementary non-invasive tool for assessment of right ventricular function in children with severe pulmonary arterial hypertension, allowing also clinical prediction and segmental analysis of right ventricular myocardial performance in these patients.

Serum Markers of Brain Injury in Pediatric Patients with Congenital Heart Defects Undergoing Cardiac Surgery: Diagnostic and Prognostic Role.

Introduction: The objectives of this study were to assess the role of neuromarkers like glial fibrillary acidic protein (GFAP), brain-derived neurotrophic factor (BDNF), protein S100 (pS100), and neuron-specific enolase (NSE) as diagnostic markers of acute brain injury and also as prognostic markers for short-term neurodevelopmental impairment. Methods: Pediatric patients with congenital heart defects (CHDs) undergoing elective cardiac surgery were included. Neurodevelopmental functioning was assessed preoperatively and 4-6 months postoperatively using the Denver Developmental Screening Test II. Blood samples were collected preoperatively and postoperatively. During surgery, regional cerebral tissue oxygen saturation was monitored using near-infrared spectroscopy (NIRS). Results: Forty-two patients were enrolled and dichotomized into cyanotic and non-cyanotic groups based on peripheric oxygen saturation. Nineteen patients (65.5%) had abnormal developmental scores in the non-cyanotic group and eleven (84.6%) in the cyanotic group. A good diagnostic model was observed between NIRS values and GFAP in the cyanotic CHD group (AUC = 0.7). A good predicting model was observed with GFAP and developmental scores in the cyanotic CHD group (AUC = 0.667). A correlation was found between NSE and developmental quotient scores (r = 0.09, p = 0.046). Conclusions: From all four neuromarkers studied, only GFAP was demonstrated to be a good diagnostic and prognostic factor in cyanotic CHD patients. NSE had only prognostic value.

Is Hypovitaminosis D a Risk Factor for Heart Failure?

BACKGROUND: Several studies in recent years have shown the association between vitamin D levels and heart failure. Vitamin D deficiency is related to increased cardiovascular morbidity and mortality, with a higher risk of developing heart failure. In this systematic review, we aimed to assess recent studies that analyzed vitamin D deficiency and heart failure in adult and pediatric populations. (2) Methods: We conducted a systematic search for studies published in the following databases: PubMed and Scopus from January 2012 to October 2022. (3) Results: Most observational studies that were included found a significant association between hypovitaminosis D and heart failure. However, the beneficial role of vitamin D supplementation is still controversial due to the lack of randomized controlled trials. (4) Conclusions: Vitamin D may play an important role as a cardiovascular marker in heart failure patients. More well-designed studies are needed to investigate the relationship between vitamin D and heart failure and to determine if vitamin D supplementation could improve long-term outcomes.

Congenital complete atrioventricular block from literature to clinical approach - a case series and literature review.

AIM: Congenital atrioventricular block (CAVB) is an immunological condition, secondary to the transfer of maternal Ig G antibodies from seropositive mothers. Although the presence of these antibodies is high among pregnant women, the preva-lence of this fetal pathology is low. The aim of this paper is to analyze a series of cases with intrauterine diagnosis of CAVB and to present their follow-up protocol. MATERIAL AND METHOD: In the period between 2013-2020, five fetuses were diagnosed and followed up in the Pediatric Cardiology Clinic. In each of the cases, assessment of the hemodynamic status was done by calculation of the fetal cardiovascular profile score (CVPS). In the last cases the follow-up protocol was supplemented with longitudinal speckle tracking evaluation of the ventricular function. RESULTS: In the present series, intrauterine death occurred in one case; in another case resumption of atrioventricular conduction was observed. Epicardial pacemaker implantation was required in three of the patients. CONCLUSION: Completing the evaluation of ventricular function with the longitudinal speckle tracking method in fetuses and newborn patients with congenital atrioventricular block may play an important role in establish-ing therapeutic behavior.

Cardiovascular Imaging for Guiding Interventional Therapy in Structural Heart Diseases.

Development of interventional methods has revolutionized the treatment of structural cardiac diseases. Given the complexity of structural interventions and the anatomical variability of various structural defects, novel imaging techniques have been implemented in the current clinical practice for guiding the interventional procedure and for selection of the device to be used. Three- dimensional echocardiography is the most used imaging method that has improved the threedimensional assessment of cardiac structures, and it has considerably reduced the cost of complications derived from malalignment of interventional devices. Assessment of cardiac structures with the use of angiography holds the advantage of providing images in real time, but it does not allow an anatomical description. Transesophageal Echocardiography (TEE) and intracardiac ultrasonography play major roles in guiding Atrial Septal Defect (ASD) or Patent Foramen Ovale (PFO) closure and device follow-up, while TEE is the procedure of choice to assess the flow in the Left Atrial Appendage (LAA) and the embolic risk associated with a decreased flow. On the other hand, contrast CT and MRI have high specificity for providing a detailed description of structure, but cannot assess the flow through the shunt or the valvular mobility. This review aims to present the role of modern imaging techniques in pre-procedural assessment and intraprocedural guiding of structural percutaneous interventions performed to close an ASD, a PFO, an LAA or a patent ductus arteriosus.

Prenatal diagnosis of the fetal common arterial trunk. A case series.

Fetal common arterial trunk is an anomaly represented by a unique arterial trunk that arouses from the base of the heart, and gives birth to systemic branches, both pulmonary and coronary, frequently associated with a ventricular septal defect (VSD) and has a poor prognosis. We present a series of 17 cases diagnosed in our tertiary center with different types of fetal common arterial trunk, its associated disorders, the evolution of the pregnancies, and of the neonates. We concluded that our cases support the fact that a complete intrauterine evaluation of each case of the common arterial trunk is impossible. The postnatal prognosis of the cases from our center was fatal, similar to most reports of the literature.

Right Ventricle Remodeling and Function in Scleroderma Patients.

Scleroderma, known also as systemic sclerosis (SSc), is a severe disease associated with high mortality rates, and right ventricular (RV) remodeling and dysfunction, along with pulmonary artery hypertension (PAH), are among the most important internal organ manifestations of this disease. PAH has a higher prevalence in patients with SSc compared to the general population and represents a significant predictor of mortality in SSc. In patients with SSc, the morphological remodeling and alteration of RV function begin even before the setting of PAH and lead to development of a specific adaptive pattern of the RV which is different from the one recorded in patients with IAPH. These alterations cause worse outcomes and increased mortality rates in SSc patients. Early detection of RV dysfunction and remodeling is possible using modern imaging tools currently available and can indicate the initiation of specific therapeutic measures before installation of PAH. The aim of this review is to summarize the current knowledge related to mechanisms involved in the remodeling and functional alteration of the RV in SSc patients.

The role of echocardiography in fetal tachyarrhythmia diagnosis. A burden for the pediatric cardiologist and a review of the literature.

Supraventricular tachyarrhythmia represents the most frequent fetal dysrhythmia. In the lack of diagnosis and treatment these fetuses may develop hydrops and even death. For the therapeutic approach it is important to establish the diagnosis of the type of supraventricular tachycardia. In this paper we report 29 cases with different types of supraventricular tachycardia in which the diagnosis was established using our own protocol, which allowed us to make the difference between the types of tachycardia (atrioventricular reentry tachycardia due to the accessory pathway, atrial ectopic tachycardia and permanent junctional reciprocal tachycardia). We acquired the data by a series of recordings in M mode and pulsed Doppler by simultaneous recording of an artery and a vein flow. First of all, we diagnosed the supraventricular tachycardia type, with short or long ventriculoarterial interval, and afterwards, we made the difference between atrial ectopic tachycardia and permanent junctional reciprocal tachycardia using methods to decrease the atrioventricular conduction.

Prenatal diagnoses of an uncommon isolated obstructed supracardiac total anomalous pulmonary venous connection: Case report and review of the literature (CARE compliant).

INTRODUCTION: Total anomalous pulmonary venous connection is an uncommon congenital heart disease. Four types are described based on the site of pulmonary venous drainage: supracardiac, cardiac, infradiaphragmathic, and mixed connection. In most cases of supracardiac type, the common venous confluence drains through an ascending left vertical vein into the brachiocephalic vein, right superior vena cava, and then into the right atrium. Anomalous connection of the pulmonary venous confluence directly to the right SVC, especially the obstructed form is an unusual and severe supracardiac variant. The prenatal diagnosis is challenging. PATIENT CONCERNS: We present a case report of a fetus diagnosed with TAPVC at 23 gestational weeks. DIAGNOSIS INTERVENTIONS: The 4-chamber view showed a small left atrium, with a "smooth" posterior wall and the absence of pulmonary vein connection. This is the first case of prenatally diagnosed isolated, obstructed supracardiac type with drainage directly into the right superior vena cava. CONCLUSION: The obstetrician and fetal cardiologist should be cautious at the direct and indirect echocardiographic signs of this condition. A prenatal diagnose of isolated, obstructed form is important for adequate planning of delivery and postnatal surgery in a tertiary center.

Giant dissecting ventricular septal haematoma associated with critical congenital heart disease.

The occurrence of an haematoma in the interventricular septum is very rare. We report a case of a giant interventricular septal haematoma after surgical correction of a critical pulmonary valve stenosis in a newborn with intact ventricular septum. Control echocardiography showed complete resolution of the haematoma at 6-month follow-up.

Ultrasonographic features of the persistence of superior left vena cava and pathological cardiac associations in fetus. Case series.

The persistence of superior left vena cava (PLSVC) is a pathological condition in fetus with risk of association with abnormalities like heterotaxy, cardiac abnormalities - atrioventricular septum defect, and conotruncal anomalies. In this paper we report 23 cases of fetuses with PLSVCs, reviewing their diagnosis, co-morbidities, and evolution in the newborns.

The role of ventricular disproportion, aortic, and ductal isthmus ultrasound measurements for the diagnosis of fetal aortic coarctation, in the third trimester of pregnancy.

AIM: To analyze the role of ventricular disproportion, aortic, and ductal isthmus ultrasound measurements for the diagnosis of fetal aortic coarctation (AoCo) and to evaluate the prediction of a needed neonatal surgical intervention in the presence of a diagnosis of AoCo. MATERIAL AND METHODS: We performed a prospective study on 41 fetuses (pregnancy age- 32 to 39 weeks, median 36 weeks) evaluated for left ventricle (LV) < right ventricle (RV) disproportion. Four fetuses were lost from evidence and five fetuses with complex cardiac malformations were excluded. The remaining group of 32 fetuses and newborns were evaluated. RESULTS: AoCo was confirmed in 9 neonates (28.12%), all requiring surgical treatment in the neonatal period. Significant statistical differences were found in Z-score (p=0.0023) and dimensions (p=0.0029) of the aortic isthmus between the neonates with normal aorta and those with AoCo. If the values of RV/LV>1.5, Ductus/Ao isthmus >1.4, and Ao isthmus <4.2 mm are concomitantly accomplished, 83.3% of the fetuses (20 of 23) did not necessitate neonatal surgical intervention. Five of the 9 operated newborns had all three parameters with values over the threshold. The probability for required surgery is 13.87 times higher when the Ao isthmus is <4.2 mm (OR = 13.87 [95% CI = 1.88 - 102.20]). CONCLUSIONS: The use of the combination between the three studied parameters with their cut-off score prediction decreases the false positive diagnosis of AoCo. The fetuses with ventricular disproportion developed only in the last trimester, had reduced chances for AoCo.