The mechanics of congenital heart disease: from a morphological trait to the functional echocardiographic evaluation.

Advances in pediatric cardiac surgery have resulted in a recent growing epidemic of children and young adults with congenital heart diseases (CHDs). In these patients, congenital defects themselves, surgical operations and remaining lesions may alter cardiac anatomy and impact the mechanical performance of both ventricles. Cardiac function significantly influences outcomes in CHDs, necessitating regular patient follow-up to detect clinical changes and relevant risk factors. Echocardiography remains the primary imaging method for CHDs, but clinicians must understand patients' unique anatomies as different CHDs exhibit distinct anatomical characteristics affecting cardiac mechanics. Additionally, the use of myocardial deformation imaging and 3D echocardiography has gained popularity for enhanced assessment of cardiac function and anatomy. This paper discusses the role of echocardiography in evaluating cardiac mechanics in most significant CHDs, particularly its ability to accommodate and interpret the inherent anatomical substrate in these conditions.

Borderline Ventricles: From Evaluation to Treatment.

A heart with a borderline ventricle refers to a situation where there is uncertainty about whether the left or right underdeveloped ventricle can effectively support the systemic or pulmonary circulation with appropriate filling pressures and sufficient physiological reserve. Pediatric cardiologists often deal with congenital heart diseases (CHDs) associated with various degrees of hypoplasia of the left or right ventricles. To date, no specific guidelines exist, and surgical management may be extremely variable in different centers and sometimes even in the same center at different times. Thus, the choice between the single-ventricle or biventricular approach is always controversial. The aim of this review is to better define when "small is too small and large is large enough" in order to help clinicians make the decision that could potentially affect the patient's entire life.

Calmodulin mutation in long QT syndrome 15 associated with congenital heart defects further complicated by a functional 2:1 atrioventricular block: Management from foetal life to postpartum.

We report a long QT syndrome 15 whose diagnosis was suspected during foetal life and confirmed at birth and was associated with congenital heart disease. Genetic testing revealed a rare mutation associated with the CALM2 gene. At 23 weeks of gestation, severe foetal sinus bradycardia (∼100 bpm) was detected. In the third trimester, the foetus developed severe right ventricular hypertrophy. At birth, the electrocardiogram showed a long QT interval of 640 ms, and after 1 hour, the newborn showed functional 2:1 atrioventricular block at ventricular rate of 50 bpm. After further pharmacological therapies, epicardial wires were surgically implanted for transient pacing in VVI mode at 90 bpm. Echocardiogram showed aneurysmatic left atrial appendage, dilated right segments, hypertrophied right ventricle, ostium secundum type atrial septal defect, and muscular ventricular septal defect. At two weeks of postpartum, a permanent dual-chamber pacemaker was implanted in the DDD mode and the patient was discharged with a prescription of beta-blockers and calcium therapy.

Changes in the Cath Lab in the Treatment of Adult Patients with Congenital Heart Disease: A 12-Year Experience in a Single Referral Center with the Establishment of a Dedicated Working Group.

BACKGROUND: Adults with congenital heart disease (ACHD) are a growing population needing ongoing care. The aim of this study was to investigate if a dedicated ACHD team impacted the timing and indication of invasive cardiology procedures in these patients at our hospital. METHODS: Our retrospective single-center study enrolled adult patients with moderate or complex congenital heart disease and with at least one cardiac catheterization between January 2010 and December 2021. According to the period, procedures were labeled as group A (2010 to 2015) or group B (2016 to 2021) and further divided into diagnostic (DCC) and interventional cardiac catheterizations (ICC). RESULTS: 594 patients were eligible for the study. Both DCC (p < 0.05) and ICC increased between groups A and B (p < 0.05). In group B: Fontan patients accounted for the majority of DCC (p < 0.001), while DCC decreased in arterial switch repair (p < 0.001). In Fontan patients, conduit stenting was prevalent (p < 0.001), while fenestration closures dropped (p < 0.01). In patients with tetralogy of Fallot and native outflow tract, percutaneous pulmonary valve implantations (PPVI) increased, with a concurrent reduction in pulmonary valve replacements (p < 0.001 vs. surgical series). In right ventricular conduits, ICC increased (p < 0.01), mainly due to PPVI. Among Mustard/Senning patients, baffle stenting increased from Group A to Group B (p < 0.001). In patients with pulmonary atresia and biventricular repair, ICC often increased for pulmonary artery stenting. CONCLUSIONS: A dedicated working group could improve ACHD patients' indications for interventional procedures, leading to tailored treatment, better risk stratification and optimizing time until heart transplantation.

Cardiovascular prevention in childhood: a consensus document of the Italian Society of Cardiology Working Group on Congenital Heart Disease and Cardiovascular Prevention in Paediatric Age.

Cardiovascular diseases (CVD) may be manifested from a very early age. Genetic and environmental (epigenetic) factors interact to affect development and give rise to an abnormal phenotypical expression of genetic information, although not eliciting changes in the nucleotide sequence of DNA. It has been scientifically proven that increased oxidative stress (OS) caused by disease (overweight, obesity, diabetes), nutritional imbalances, unhealthy lifestyles (smoking, alcohol, substance abuse) in the mother during pregnancy may induce placental dysfunction, intrauterine growth restriction, prematurity, low birth weight, postnatal adiposity rebound, metabolic alterations and consequent onset of traditional cardiovascular risk factors. OS represents the cornerstone in the onset of atherosclerosis and manifestation of CVD following an extended asymptomatic period. OS activates platelets and monocytes eliciting the release of pro-inflammatory, pro-atherogenic and pro-oxidising substances resulting in endothelial dysfunction, decrease in flow-mediated arterial dilatation and increase in carotid intima-media thickness. The prevention of CVD is defined as primordial (aimed at preventing risk factors development), primary (aimed at early identification and treatment of risk factors), secondary (aimed at reducing risk of future events in patients who have already manifested a cardiovascular event), and tertiary (aimed at limiting the complex outcome of disease). Atherosclerosis prevention should be implemented as early as possible. Appropriate screening should be carried out to identify children at high risk who are apparently healthy and implement measures including dietary and lifestyle changes, addition of nutritional supplements and, lastly, pharmacological treatment if risk profiles fail to normalise. Reinstating endothelial function during the reversible stage of atherosclerosis is crucial.

Hybrid Palliation for Hypoplastic Left Heart Syndrome: Role of Echocardiography.

Hypoplastic left heart syndrome is a spectrum of complex congenital cardiac defects. Although in borderline cases, biventricular repair is a viable option, in the majority of cases, univentricular palliation is the treatment of choice. Hybrid palliation can be a valid alternative to classic Norwood operation in the neonatal period, especially in selected cases such as high-risk patients or borderline left ventricles. Echocardiography is the main diagnostic modality in this pediatric population, from the fetal diagnosis to the subsequent surgical steps of palliative treatment. Hybrid palliation is performed after birth and is characterized by surgical banding of the pulmonary arteries along with transcatheter stenting of the ductus arteriosus. There are some peculiar aspects of cardiac imaging that characterize this type of palliation, and that should be considered in the different phases before and after the procedure. We aimed to review the current literature about the role of echocardiography in the management of patients with hypoplastic left heart undergoing hybrid palliation.

Hybrid Palliation for Hypoplastic Borderline Left Ventricle: One More Chance to Biventricular Repair.

Treatment options for hypoplastic borderline left ventricle (LV) are critically dependent on the development of the LV itself and include different types of univentricular palliation or biventricular repair performed at birth. Since hybrid palliation allows deferring major surgery to 4-6 months, in borderline cases, the decision can be postponed until the LV has expressed its growth potential. We aimed to evaluate anatomic modifications of borderline LV after hybrid palliation. We retrospectively reviewed data from 45 consecutive patients with hypoplastic LV who underwent hybrid palliation at birth between 2011 and 2015. Sixteen patients (mean weight 3.15 Kg) exhibited borderline LV and were considered for potential LV growth. After 5 months, five patients underwent univentricular palliation (Group 1), eight biventricular repairs (Group 2) and three died before surgery. Echocardiograms of Groups 1 and 2 were reviewed, comparing LV structures at birth and after 5 months. Although, at birth, all LV measurements were far below the normal limits, after 5 months, LV mass in Group 2 was almost normal, while in Group 1, no growth was evident. However, aortic root diameter and long axis ratio were significantly higher in Group 2 already at birth. Hybrid palliation can be positively considered as a "bridge-to-decision" for borderline LV. Echocardiography plays a key role in monitoring the growth of borderline LV.

Primary and secondary paediatric hypertension.

High blood pressure (BP) or hypertension is a well known risk factor for developing heart attack, stroke, atrial fibrillation and renal failure. Although in the past hypertension was supposed to develop at middle age, it is now widely recognized that it begins early during childhood. As such, approximately 5-10% of children and adolescents are hypertensive. Unlike that previously reported, it is now widely accepted that primary hypertension is the most diffuse form of high BP encountered even in paediatric age, while secondary hypertension accounts just for a minority of the cases. There are significant differences between that outlined by the European Society of Hypertension (ESH), the European Society of Cardiology (ESC), and the last statement by the American Academy of Pediatrics (AAP) concerning the BP cut-offs to identify young hypertensive individuals. Not only that, but the AAP have also excluded obese children in the new normative data. This is undoubtedly a matter of concern. Conversely, both the AAP and ESH/ESC agree that medical therapy should be reserved just for nonresponders to measures like weight loss/salt intake reduction/increase in aerobic exercise. Secondary hypertension often occurs in aortic coarctation or chronic renal disease patients. The former can develop hypertension despite early effective repair. This is associated with significant morbidity and is arguably the most important adverse outcome in about 30% of these subjects. Also, syndromic patients, for example those with Williams syndrome, may suffer from a generalized aortopathy, which triggers increased arterial stiffness and hypertension. This review summarizes the state-of-the-art situation regarding primary and secondary paediatric hypertension.

Left ventricle dysfunction in patients with critical neonatal pulmonary stenosis: echocardiographic predictors. A single-center retrospective study.

Background: The aim of this study is to identify echocardiographic predictors of transient left ventricle dysfunction after pulmonary valve balloon dilatation (PVBD), in neonates with pulmonary valve stenosis (PVS) and atresia with intact septum (PAIVS) at birth. Methods: The study includes patients admitted at the Bambino Gesù Children Hospital from January 2012 to January 2017. Clinical, echocardiographic and cardiac catheterization data before and after PVBD were retrospectively analyzed. Results: Twenty-nine infants were included in the study (21 male and eight female). The median age was 5.8 ± 7.1 days. Eight patients developed transient LV dysfunction (three PAIVS and five PVS) and comparing data before and after the procedure, there was no difference in right ventricle geometrical and functional parameters except for evidence of at least moderate pulmonary valve regurgitation after PVBD. Conclusion: Moderate to severe degree pulmonary valve regurgitation was significant associated to LV dysfunction (p < 0.05) in PVS and PAIVS patients.

New Onset Cardiac Murmur and Exertional Dyspnea in an Apparently Healthy Child: A Rare Localization of Obstructive Myxoma in the Right Ventricle Outflow Tract without Pulmonary Embolization-A Case Report and Literature Review.

Myxomas are slowly growing benign neoplasms which are rare in children. Up to 80% can be located in the left atrium and generate symptoms such as embolism, cardiac failure, fever and weight loss. Rarely, myxomas can be detected in the right ventricle outflow tract, causing arrhythmias, pulmonary emboli and sudden death. We report the case of a 13-year-old healthy child brought to the Emergency Department (ED) of the Children's Hospital Bambino Gesù, Rome, for recent dyspnea, chest pain on exertion and new onset cardiac murmur. Patient underwent medical examination and echocardiogram with the finding of a rounded and lobulated voluminous mass in the right ventricle outflow tract (RVOT) which caused severe obstruction. The contrast computed tomography (CT) scan confirmed the presence of a heterogeneously enhancing soft-tissue mass occupying the RVOT with no evidence of pulmonary embolization. The mass was surgically excised, and the pathologic examination confirmed our suspicion of myxoma. Our experience suggests that myxoma can have mild clinical symptoms, the presentation may be non-specific, and diagnosis can be a challenge Careful examination and a diagnostic imaging workup, primarily with the transthoracic echocardiogram, are needful to make a rapid differential diagnosis and to better manage surgical treatment and follow-up.

Soluble Isoform of Suppression of Tumorigenicity 2 (ST2) Biomarker in a Large Cohort of Healthy Pediatric Population: Determination of Reference Intervals.

Introduction: Only little data exists on ST2 reference intervals in healthy pediatric populations despite the high importance of this biomarker in adults with heart failure. The aim of the study was to assess the reference intervals of ST2 in a wide healthy pediatric cohort. Methods: We evaluated the serum concentrations of ST2 biomarker in 415 healthy pediatric subjects referred to our analysis laboratory. Subjects were categorized according to age (i.e., 0−6 (n = 79), 7−11 (n = 142) and 12−18 years (n = 191)) and sex. They were not suffering from any cardiac disorders, metabolic disorders, lung diseases, autoimmune disorders or malignancies. A written consent was obtained for each individual. No duplicate patients were included in the analysis and the presence of outliers was investigated. Reference intervals (Mean and central 95% confidence intervals) were determined. Results: Three outliers have been identified and removed from the analysis (60.0, 64.0 and 150.2 ng/mL). A total of 412 subjects were therefore included. The mean value for the whole population was 15.8 ng/mL (2.4−36.4 ng/mL). Males present a significantly higher mean concentration compared to females (17.2 versus 14.4 ng/mL, p = 0.001). A significant trend toward higher ST2 values with age was also observed, but for males only (r = 0.43, p < 0.0001). If considering age partitions, only males of 12−18 years (mean = 21.7 ng/mL) had significantly higher ST2 values compared to the other groups (ranging from 11.9 for males 0−6 years to 15.2 for females 12−18 years; p < 0.0001). Conclusions: We described age and sex-specific reference intervals for ST2 in a large healthy pediatric population. We found that ST2 values differ between sexes if considering all participants. A significant increase in ST2 with age was also observed, but only for males of 12−18 years.

Cardiac Imaging in Patients After Fontan Palliation: Which Test and When?

The Fontan operation represents the final stage of a series of palliative surgical procedures for children born with complex congenital heart disease, where a "usual" biventricular physiology cannot be restored. The palliation results in the direct connection of the systemic venous returns to the pulmonary arterial circulation without an interposed ventricle. In this unique physiology, systemic venous hypertension and intrathoracic pressures changes due to respiratory mechanics play the main role for propelling blood through the pulmonary vasculature. Although the Fontan operation has dramatically improved survival in patients with a single ventricle congenital heart disease, significant morbidity is still a concern. Patients with Fontan physiology are in fact suffering from a multitude of complications mainly due to the increased systemic venous pressure. Consequently, these patients need close clinical and imaging monitoring, where cardiac exams play a key role. In this article, we review the main cardiac imaging modalities available, summarizing their main strengths and limitations in this peculiar setting. The main purpose is to provide a practical approach for all clinicians involved in the care of these patients, even for those less experienced in cardiac imaging.

[Proposal of a common model for informed consent for interventional procedures in congenital heart disease patients]. / Proposta di un modello comune al consenso informato per le procedure di emodinamica nel cardiopatico congenito.

BACKGROUND: A multidisciplinary study group involving physicians and jurists was established to review and approve an informed consent about the most frequent interventional procedures for congenital heart diseases. METHODS: The authors worked together with representatives of the Italian Society of Pediatric Cardiology and Congenital Heart Disease (SICP) Council and Jurist's expert in the field of health case-law. The final draft was shared with the major Italian centers involved in congenital interventional procedures and with AICCA, the Italian Patients Association of Congenital Heart Diseases - Adults and Children. RESULTS: At the end of this review process, a final informed consent form was developed for the most frequent procedures performed in our catheterization laboratories. All of them consist of two parts: a general statement and a procedure-related one. CONCLUSIONS: The work performed by this multidisciplinary study group, under the supervision of the SICP, resulted in a new dedicated informed consent about interventional procedures in the field of congenital cardiology, taking into account the new legal requests. This informed consent is intended to be both a document that can be used as such and a document from which to derive a specific document for each center. We believe that using similar informed consents in all Congenital Heart Disease Centers or at least have informed consents all inspired by the same setting, could be a further improvement in taking care of the patients and their families.

Tricuspid valve in congenital heart disease: multimodality imaging and electrophysiological considerations.

The tricuspid valve (TV) has been neglected for many years. Only recently, new studies demonstrated the prognostic role of the tricuspid valve lesions. In addition to that, new interventional approaches offer the possibility to noninvasively treat tricuspid valve disease. In this review, our aim was to summarize the role of different imaging techniques in the assessment of tricuspid valve with particular regards to congenital heart diseases. Finally, we analyze the importance of the TV and its adjacent regions from an electrophysiological point of view, both in structurally normal hearts and in congenital heart diseases. The most relevant transthoracic echocardiography (TTE) views to visualize the TV are the "modified" parasternal long axis, the apical views and subcostal projections, such as right oblique or left oblique views. However, simultaneous visualization of the three leaflets is possible only with three-dimensional TTE or, sometimes, in parasternal short axis and subcostal short axis views in children. 3D echocardiography is promising in this field. Indeed, its unique projections, such as en-face views from the right ventricular and atrial perspectives, are able to define the spatial relationship of the tricuspid leaflets with the surrounding structures. Moreover, multimodality imaging assessment has been recently proposed for the diagnostic assessment of the TV, especially before percutaneous intervention. Cardiac computed tomography provides valuable anatomic spatial information of the TV apparatus. Cardiac magnetic resonance is able to provide, noninvasively, detailed morphological and functional information of the valve.

The Effects of Physical Inactivity and Exercise at Home in Young Patients with Congenital Heart Disease during the COVID-19 Pandemic.

Background: The COVID-19 pandemic had a significant impact on the population's ability to be physically active. Purpose: Evaluate the effect of the COVID-19 mitigation measures on exercise tolerance in patients with congenital heart disease (CHD). Materials and methods: All subjects (880, 6-18 years old) who performed a stress test at our hospital from October 2020 to February 2021 and had a similar test one year earlier were enrolled. A questionnaire on the degree of physical activity carried out in 2020 concerning the period prior to the pandemic was compiled. Exercise tolerance and the main anthropometric parameters between the first and second tests were compared. Results: 110 subjects (11.9 ± 4.1 years) were included in the study. The percentage of patients engaged in regular physical activity (RPA) decreased significantly during the pandemic (p < 0.001), and BMI increased significantly (p < 0.001), except among the subjects who began RPA during the lockdown, whereas test duration did not decrease significantly overall but increased in this last subgroup (p < 0.05) Conclusions: The COVID-19 lockdown led to a less active lifestyle with a significant increase in BMI in our group of CHD. These data could have negative effects on the risk profile of this population. RPA practiced at home seems to be effective in counteracting such effects.

Risk Factors of Right Ventricular Dysfunction and Adverse Cardiac Events in Patients with Repaired Tetralogy of Fallot.

AIM: This study evaluates the risk factors associated with right ventricular (RV) dilation and dysfunction leading to pulmonary valve replacement (PVR) or adverse cardiac events in repaired Tetralogy of Fallot (rToF) patients. METHODS: Data from all rToF patients who underwent magnetic resonance imaging (MRI) evaluation at our hospital between February 2007 and September 2020 were collected. RESULTS: Three hundred and forty-two patients (60% males, 42% older than 18 years), with a median age of 16 years (IQR 13-24) at the time of MRI, were included. All patients underwent complete repair at a median age of 8 months (IQR 5-16), while palliation was performed in 56 patients (16%). One hundred and forty-four patients (42%) subsequently received pulmonary valve replacement (PVR). At the multivariate analysis, male gender was an independent predictor for significant RV dilation, RV and left ventricular (LV) dysfunction. Transventricular ventricular septal defect (VSD) closure and previous palliation significantly affected LV function and RV size, respectively. Male gender and the transventricular VSD closure were independent predictors for PVR. CONCLUSIONS: Male gender and surgical history (palliation, VSD closure approach) significantly affected the long-term outcomes in rToF patients and should be taken into consideration in the follow-up management and in PVR timing in this patient population.

Impact of hard lockdown on interventional cardiology procedures in congenital heart disease: a survey on behalf of the Italian Society of Congenital Heart Disease.

The Coronavirus disease 2019 (COVID-19) pandemic has thoroughly and deeply affected the provision of healthcare services worldwide. In order to limit the in-hospital infections and to redistribute the healthcare professionals, cardiac percutaneous intervention in Pediatric and Adult Congenital Heart Disease (ACHD) patients were limited to urgent or emergency ones. The aim of this article is to describe the impact of the COVID-19 pandemic on Pediatric and ACHD cath laboratory activity during the so-called 'hard lockdown' in Italy. Eleven out of 12 Italian institutions with a dedicated Invasive Cardiology Unit in Congenital Heart Disease actively participated in the survey. The interventional cardiology activity was reduced by more than 50% in 6 out of 11 centers. Adolescent and ACHD patients suffered the highest rate of reduction. There was an evident discrepancy in the management of the hard lockdown, irrespective of the number of COVID-19 positive cases registered, with a higher reduction in Southern Italy compared with the most affected regions (Lombardy, Piedmont, Veneto and Emilia Romagna). Although the pandemic was brilliantly addressed in most cases, we recognize the necessity for planning new, and hopefully homogeneous, strategies in order to be prepared for an upcoming new outbreak.

[High blood pressure in children and adolescents: lights and shadows in the American Academy of Pediatrics clinical practice guidelines]. / La pressione elevata nei bambini e negli adolescenti: luci ed ombre nelle linee guida per la pratica clinica dell'Accademia Americana di Pediatria.

High blood pressure in pediatric age is meeting a growing interest owing to the possible aftermaths in adult age in terms of public health. In fact, children and adolescents with high blood pressure values are likely to become hypertensive adults, thus developing cardiovascular diseases. Over the last decade, numerous studies have been conducted in this field. That is the reason why the American Academy of Pediatrics in 2017 published un update on the previous recommendations of the United States Fourth Working Group on pediatric blood pressure. This update includes a new classification of hypertension, the endorsement of the 24-hour ambulatory blood pressure monitoring and the reduction in the blood pressure target for both chronic kidney disease and non-chronic kidney disease hypertensive children. This review discusses strengths and weaknesses of the recent practical guidelines of the American Academy of Pediatrics.