Dobutamine Stress Cardiac MRI in Pediatric Patients with Suspected Coronary Artery Disease.

Following current practice, pediatric patients with treated congenital coronary malformations or acquired coronary disease undergo Cardio-Pulmonary Exercise Test (CPET), stress Echocardiography and Electrocardiography (sEcho, sEKG), and Coronary Angiography (CA). Stress cMRI can assess cardiac function, myocardial viability, and stress/rest perfusion deficit-without radiation exposure, general anesthesia, and hospitalization-in a single non-invasive exam. The aim of our pilot study is to assess the feasibility and diagnostic accuracy of Dobutamine stress cMRI compared to the current procedures (sEcho, CPET, CA). The prospective study is focused on pediatric patients, at risk for or with previously diagnosed coronary artery disease: d-looped TGA after arterial Switch, Kawasaki disease, and anomalous origin of left coronary artery from pulmonary artery (ALCAPA) after coronary artery reimplantation. We have compared the results of MRI coronary angiography, and Dobutamine stress cMRI with traditional tests. All these diagnostic exams were acquired in a timeframe of 3 month, in a blinded fashion. All the 13 patients (age: 12 ± 2 years, median 12,7 y) recruited, completed the study without major adverse events. The mean heart rate-pressure product was 25,120 ± 5110 bpm x mm Hg. The target heart rate of 85% of the maximal theoretical was reached by 10 (77%) patients. The comparison between cardiac MRI coronarography versus the gold standard Coronary Angiography to identify the patency of the origin and the proximal pathway of the coronary arteries shows a sensitivity of 100% (confidence interval: 2,5-100%), specificity 92% (confidence interval: 64-100%). The stress test was well tolerated for the 77% of the patients and completed by the totality of patients (Table 3). Three patients (23%) had mild symptoms: nausea, vomiting, or general discomfort. In pediatric patients with a potential or definite diagnosis of coronary artery disease, stress cMRI combines an effective assessment of proximal coronary arteries anatomy with cardiac function, myocardial perfusion, and viability in a single examination. Stress cMRI can be proposed as alternative, standalone test.

Fetal aortic coarctation: A combination of third-trimester echocardiographic parameters to improve the prediction of postnatal outcome.

Objectives: This study aims to determine a combination of third-trimester echocardiographic parameters for improving the prenatal prediction of coarctation of the aorta (CoA) after birth. Methods: We included all cases of suspected CoA during fetal echocardiography performed in the second and/or third trimester of pregnancy at Gaslini Children's Hospital between January 2010 and December 2020. The last prenatal ultrasound evaluation was reviewed considering most of the echocardiographic criteria were already published for prenatal CoA diagnosis. Associated minor cardiac anomalies, such as a ventricular septal defect, persistent left superior vena cava (PLSCV), and redundant foramen ovale (FO) membrane, as well as postnatal outcomes, were reported. Initial perinatal management was defined based on the risk stratification of CoA during prenatal echocardiography. Neonates were divided into two groups depending on the presence or absence of CoA after birth. Results: A total of 91 fetuses with CoA suspicion were selected, of which 27 (30%) were confirmed with CoA after birth and underwent surgical repair. All cardiac parameters except redundant FO membrane and PLSCV showed a significant correlation with CoA. Statistical analysis confirmed that cardiovascular disproportion with right predominance carries an increased risk for occurrence of CoA, especially if already evident during the ultrasound evaluation in the second trimester. Aortic valve (AV) z-score and distal transverse aortic arch (TAA) z-score resulted as the best predictors of CoA after birth. The best cutoff point for CoA discrimination with ROC analysis was an AV z-score of -1.25 and a distal TAA z-score of -0.37. A total of 46% of those without CoA were diagnosed with a cardiac defect, which was not diagnosed in utero, pulmonary hypertension, or a genetic syndrome. Conclusion: The current criteria for diagnosing CoA in utero allow accurate diagnosis of most severe cases but the rate of false positives remains relatively high for milder cases. A combination of anatomic and functional echocardiographic parameters might be used in stratifying the risk of CoA. We proposed the AV and the TAA diameter z-scores as the best predictors of CoA after birth. In addition, neonates without CoA deserve proper monitoring at birth because prenatal evidence of a significant cardiovascular discrepancy between the right and left cardiac structures has an inherent risk for additional morbidity postnatally.

[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.

Aortopulmonary window and coronary anatomy - still a pre-operative diagnostic trouble!

We present a case of aortopulmonary window in which the diagnosis of anomalous left coronary artery originating from pulmonary artery was made intra-operatively even if the coronary arteries anatomy was correctly studied pre-operatively with echocardiography. No evidence of coronary anomalies or indirect sings of coronary anomalies has been noted. Should we improve our pre-operative diagnostic accuracy and how?

Cardiovascular Manifestations in Multisystem Inflammatory Syndrome in Children (MIS-C) Associated with COVID-19 According to Age.

Cardiac involvement in multisystem inflammatory syndrome in children (MIS-C) associated with coronavirus-19 disease is often observed with a high risk of heart failure. The aim is to describe cardiovascular involvement, management and early outcome in MIS-C by comparing cardiovascular manifestations in children younger and older than 6 years old. This retrospective observational study included 25 children with MIS-C, admitted to a single pediatric center between March 2020 and September 2021. The median age was 5 years (13 patients under 6 years and 12 over 6 years); coronary artery abnormalities were observed in 77% of preschoolers, with small and medium aneurysms in half of the cases and two cases of mild ventricular dysfunction. School-age children presented myopericardial involvement with mild to moderate ventricular dysfunction in 67% of cases, and two cases of transient coronary dilatation. There was a significant NT-pro-BNP and inflammatory markers increase in 25 of the patients, and mild elevation of troponin I in 9. All patients were treated with intravenous immunoglobulin and corticosteroids, and 8 with anakinra. None of the patients needed inotropes or intensive care unit admission. Our study shows the frequent cardiovascular involvement in MIS-C with a peculiar distribution, according to different age group: coronary artery anomalies were more frequent in the younger group, and myopericardial disease in the older one. A prompt multitarget, anti-inflammatory therapy could probably contribute to a favorable outcome.

Tracheobronchography for pediatric airway disease is still a valuable technique?

BACKGROUND: Congenital and acquired airway anomalies represent a relatively common albeit diagnostic and therapeutic challenge. Obtaining maximum definition of the abnormality is imperative prior to attempting surgical procedure because some tracheal lesions have a significant risk of mortality. Are Tracheobronchography (TBG) and Tracheobronchofluoroscopy (TBF) valuable or obsolete tecniques? METHODS: We retrospectively reviewed all the diagnostic and interventional TBG-TBF requested by the multidisciplinary conference, during the last 10 years in a tertiary care hospital exclusively dedicated to pediatric patients. RESULTS: A total of 268 procedures performed in 60 pediatric patients (68% male, mean age 4,8 years), were reviewed. 41 diagnostic TBG-TBF were performed in a group of 34 patients with excellent result, without complications. A total of 175 procedures of tracheobronchoplasty guided by TBG-TBF were completed in a group of 25 patients. Seven bioabsorbable self-expanding stents were placed in the airway of 6 children. CONCLUSIONS: Diagnostic TBG and TBF are still irreplaceable tools to evaluate pediatric airway disease, with many advantages over the newest imaging techniques. Interventional procedures of pediatric airways under the guide of TBGTBF represent safe and effective treatment options in selected patients, with positive clinical impact.

Working as a team in airway surgery: History, present and perspectives.

Teamwork is one of the most important trend in modern medicine. Airway team were created in many places to respond in a multidisciplinary and coordinated way to challenging clinical problems which were beyond the possibility of an individual management. In this chapter, we illustrate the historical steps leading to the development of an airway team in a pediatric referral hospital, describe the present teamwork activity defining the key points for the creation of a team and discussing different organization models; finally we delineate possible future directions for the airway teams in the globalized world.

Delivery Room Intensive Care Unit: 5 Years' Experience in Assistance of High-Risk Newborns at a Referral Center.

Objective: The aim of the study is to describe a delivery room intensive care unit (DRICU) model and evaluate its effectiveness in preventing morbidity and mortality in high-risk newborns. Design: This retrospective case series includes all DRICU procedures performed from 2016 to 2020. Setting: Gaslini Children's Hospital is a major pediatric tertiary care center where high-risk pregnancies are centralized. The Neonatal and Pediatric Intensive Care Unit admits every year about 100 high-risk newborns. Patients: The selected patients are newborns at risk of critical conditions immediately after birth for respiratory or cardiovascular congenital disorders. Interventions: The perinatal plan is defined by the multidisciplinary team of Fetal and Perinatal Medicine. The DRICU procedure provides highly specialized care through a protocol that includes logistics, personnel, equipment, and clinical pathways. Main Outcome Measures: The primary outcome is the prevention of acute complications and mortality in the delivery room and early neonatal period. Results: From 2016 to 2020, 40 DRICU procedures were performed. The main prenatal diagnoses included congenital heart disease with a high risk of life-threatening events immediately after birth (38%), congenital diaphragmatic hernia (35%), and fetal hydrops/hydrothorax (23%). Mean gestational age was 35.9 weeks (range: 31-39), and mean birth weight was 2,740 grams (range: 1,480-3,920). DRICU assistance completed in all patients by neonatal intensivists included tracheal intubation and arterial and central venous cannulation; complex procedures such as ex-utero intrapartum technique and extracorporeal membrane oxygenation cannulation are described. No deaths nor severe acute complications occurred in the delivery room or in the immediate postnatal period. Conclusions: The outcome in critical newborns is potentially affected by planned assistance strategies and specialized competencies through the implementation of a DRICU protocol.

International experience with the use of Cocoon septal occluder for closure of atrial septal defects.

BACKGROUND: The Cocoon septal occluder (CSO) is a new generation double disk occluder device for catheter closure of the secundum atrial septal defect (ASD). Initial clinical evaluations with the use of this device have shown quite satisfactory results but large follow-up studies are missing. In this international multicenter study, we present procedural and follow-up data from 4008 patients with secundum ASD who underwent catheter closure with the use of CSO. METHODS: The study cohort consisted of 1853 pediatric and 2155 adult patients with secundum ASD treated with the CSO. Patients were enrolled retrospectively from 11 international centers and were followed for a mean period of 43 months (range 12-84 months), postprocedural. Clinical, electrocardiographic, echocardiographic, procedural, and follow-up data were collected from each collaborating hospital. RESULTS: The CSO was permanently implanted in 3983 patients (99.4%). Echocardiographic evaluation at one month follow-up revealed complete closure in 99.6% of those patients who had a device implanted. Thrombus formation in one adult patient was the only major device related to procedural complication. During the follow-up period, no patient developed cardiac erosions, allergic reactions to nickel, or other major complications. CONCLUSIONS: Implantation of CSO provided satisfactory procedural and follow-up results with high success and no device-related cardiac erosions and nickel allergy.

Cardiovascular MRI assessment of pectus excavatum in pediatric patients and postoperative simulation using vacuum bell.

BACKGROUND: The sternal lift by Vacuum Bell (VB) is effective, as largely demonstrated by its intraoperative use during surgical procedure to elevate the sternum during the Nuss procedure routinely. Indeed, the thoracic remodelling during VB application is comparable to post-surgical scenario, and suitable to compare cardiovascular parameters of the two different thoracic configurations immediately. OBJECTIVE: We would quantify and correlate preoperative parameters which determine the severity of the pectus excavatum (PE), and the cardiovascular effects at the baseline. Than we would assess the cardiovascular changes during VB positioning, mimicking the immediate, temporary effect of Pectus-correction. MATERIALS AND METHODS: We included 26 consecutive patients (mean age is 13,3 +/- 2,2 years) symptomatic and non, with a previous clinical diagnosis of PE. CMR was performed before and during application of VB, using the same imaging protocol. In both conditions, we measured thoracic indexes, and cardiac function as well as flow through main vessels. RESULTS: Mean expiratory Haller Index (HI) was 5,4 (+/-1,4 SD; normal <3). During VB application, all patients showed improvement in the main morphologic parameters of the thorax (mean expiratory HI = 4,7 (+/-1,6 SD, delta -13%, P = 0,01). During VB application, a minimal but not significant increase of Right Ventricle End Diastolic Volume (RVEDVi) (delta +4,6%, P = 0,12), and Right Ventricle Ejection Fraction (RVEF) (delta +1,2%, P = 0,2) was observed. CONCLUSION: In adolescents affected by PE, cardiacMRI (CMR) demonstrates normal values of biventricular volume and systolic function. During VB application, beside significative improvements in chest wall anatomy, CMR shows a minimal positive variation in right ventricle volume and function. A minority of patients showed some degree of diastolic dysfunction at baseline, unchanged after VB application, with possible correlation between valve inflow and sternal impingement.

Isolated Congenital Coronary Ostial Stenosis in a Young Infant: A Case Report.

Coronary ostial stenosis is a rare congenital cardiac anomaly, frequently associated with hypoplasia of the proximal coronary artery. This condition is potentially life-threatening, as it may present with myocardial ischemia and sudden death. We present a case of left coronary ostial stenosis in a 48-day-old infant symptomatic for sudden cardiac arrest, who successfully underwent surgical angioplasty. Any cardiac arrest in a neonate or young infant should raise suspicion of coronary ostial stenosis/atresia, considering the difficulty in diagnosing this congenital heart defect.

DATA in BRIEF of: Interventional Cardiac Catheterization in Neonatal Age: Results in a Multi-centre Italian Experience.

A comprehensive description of morbidity and mortality as well as risk factors of interventional cardiac catheterization performed in neonatal age was reported in our paper recently published on the International Journal of Cardiology (IJCA28502; PII: S0167-5273(20)30384-3; DOI: 10.1016/j.ijcard.2020.04.013). Eight Italian high-volume centres of Paediatric Cardiology were involved in this observational, retrospective data collection and analysis. In this dataset, clinical and procedural characteristics of 1423 newborns submitted to 1551 interventional cardiac catheterization procedures were analyzed. Primary outcomes were considered procedure and in-hospital mortality as well as major adverse event and procedural failure rates. Secondary outcomes were considered minor adverse events and need for blood transfusion. Targets of this data analysis were: 1) to evaluate the overall major risk factors of interventional cardiac catheterization; 2) to identify the most hazardous interventional procedures; 3) to assess possible trends of individual procedures as well as their outcome over time; 4) to find possible relationships between the volume activity of any centre and the procedure and follow-up outcome. In particular, this Data in Brief companion paper aims to report the specific statistic highlights of the multivariable analysis (binary logistic regression) used to assess the impact of any potential risk factors on the type of procedure over a short-term follow-up.

Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study.

BACKGROUND: RASopathies are a set of relatively common autosomal dominant clinically and genetically heterogeneous disorders. Cardiac outcomes in terms of mortality and morbidity for common heart defects (such as pulmonary valve stenosis and hypertrophic cardiomyopathy) have been reported. Nevertheless, also Atypical Cardiac Defects (ACDs) are described. The aim of the present study was to report both prevalence and cardiac outcome of ACDs in patients with RASopathies. METHODS: A retrospective, multicentric observational study (CArdiac Rasopathy NETwork-CARNET study) was carried out. Clinical, surgical, and genetic data of the patients who were followed until December 2019 were collected. RESULTS: Forty-five patients out of 440 followed in CARNET centers had ACDs. Noonan Syndrome (NS), NS Multiple Lentigines (NSML) and CardioFacioCutaneous Syndrome (CFCS) were present in 36, 5 and 4 patients, respectively. Median age at last follow-up was 20.1 years (range 6.9-47 years). Different ACDs were reported, including mitral and aortic valve dysfunction, ascending and descending aortic arch anomalies, coronary arteries dilation, enlargement of left atrial appendage and isolated pulmonary branches diseases. Five patients (11%) underwent cardiac surgery and one of them underwent a second intervention for mitral valve replacement and severe pericardial effusion. No patients died in our cohort until December 2019. CONCLUSIONS: Patients with RASopathies present a distinct CHD spectrum. Present data suggest that also ACDs must be carefully investigated for their possible impact on the clinical outcome. A careful longitudinal follow up until the individuals reach an adult age is recommended.

Interventional cardiac catheterization in neonatal age: results in a multicentre Italian experience.

BACKGROUND: Despite recent technical advances, interventional cardiac catheterization is still challenging in neonatal age and no specific data concerning early outcome are so far published in literature. METHODS: Neonatal trans-catheter cardiac interventions performed in high-volume Italian referral centers were retrospectively analyzed. Primary outcomes were procedural major adverse events, in-hospital mortality and procedural failure. Secondary outcomes were minor adverse events and need for blood transfusion. RESULTS: From January 2000 to December 2017, 1423 newborns (mean weight 3.0 ± 0.6 kg, range 1.0-5.8; median age 2.0 days) underwent interventional cardiac catheterization. Overall, global procedure adverse event rate and in-hospital mortality were 10.2% and 5.2%, respectively. At multi-variable analysis, primary composite outcome was significantly related to low-weight (<2.5 kg) (p < 0.01) and younger age (≤7 days) (p < 0.01) at the procedure, prematurity (p < 0.01), uni-ventricular physiology (p < 0.01), associated genetic syndromes (p < 0.01) and procedure risk category (p < 0.01). No relationship between volume of activity of any single center and procedure outcome was found. Over time, a trend toward an increased number of procedures and their complexity was recorded. Trans-catheter management of cardiac malformations with critical, duct-dependent pulmonary blood flow by arterial duct stenting or right ventricular outflow tract stenting showed the highest increase. CONCLUSIONS: Interventional cardiac catheterization is relatively safe and feasible in neonatal age. Peri-natal age, low weight, uni-ventricular physiology and genetic syndromes still significantly contribute to procedural morbidity and in-hospital mortality of this approach.

Double-Outlet Right Atrium: Review of a Rare Anomaly With an Exemplary Case.

BACKGROUND: Double-outlet right atrium (DORA) is a rare congenital cardiac defect, where the right atrium (RA) is connected to both the right ventricle (RV) and the left ventricle (LV). Double-outlet right atrium is classified into two types, each containing two subtypes: malaligned atrial septum with common or single atrioventricular (AV) valve and malaligned ventricular septum (VS) with adequate or inadequate RV. The VS type is characterized by straddling right AV valve (RAVV) with intact VS, resulting in two RAVV orifices. METHODS: We report a case of "acquired DORA" in a 17-year-old male patient previously treated with subaortic VSD closure. At admission, we diagnosed DORA with VS malalignment and adequate RV. The patient had 2 orifices within the RAVV, connecting the RA to both the RV (via RAVV orifice 1) and the LV (via RAVV orifice 2). The latter was insufficient, with severe LV to RA shunt. A review of the literature indexed in PubMed and Scopus databases was undertaken. RESULTS: The patient underwent biventricular repair through closure of the RAVV orifice 2 with a pericardial patch. Pacemaker implantation for complete AV block was necessary. Postoperative course and follow-up were regular. The literature review showed 39 cases of DORA, of which 8 had a malaligned VS and an adequate RV, as in our case. CONCLUSION: Acquired DORA is an interesting post-surgical variant of a rare congenital heart defect. Biventricular repair is a feasible and viable option, which involves closing the third AV orifice. Careful attention is required in order to avoid injury to the conduction system.

Hybrid procedure of right ventricle outflow tract stenting in small infants with pulmonary atresia and ventricular septal defect: early and mid-term results from a single centre.

IntroductionPulmonary atresia, ventricular septal defect, major aorto-pulmonary collateral arteries, and pulmonary arteries hypoplasia are rare and complex congenital defects that require early interventions to relieve cyanosis and enhance the growth of native pulmonary arteries. The treatment of these patients is still controversial. Surgical techniques require cardiopulmonary bypass which is poorly tolerated by small infants. Percutaneous techniques such as radiofrequency perforation can be challenging. The hybrid technique consists of perventricular stenting of the right ventricle outflow tract through medial sternotomy, to restore native pulmonary flow. METHODS: We retrospectively reviewed the cardiovascular database of our centre in order to analyse our experience in hybrid procedure. We detected six patients who underwent hybrid first approach between November 2007 and December 2015. We report our early results and mid-term outcomes. RESULTS: Median age at the procedure was 26 days, median weight was 3150 g, and median Nakata index was 52 mm2/m2. All procedures were successful except for one: this patient underwent a surgical shunt. No immediate and early deaths or major complications occurred and oxygen saturation levels increased in all the patients. Patients were followed up for a period of 12-103 months, and four of them underwent a procedure of unifocalisation at the mean age of 12.5 months. CONCLUSIONS: We reported data from the largest series of patients who underwent this hybrid procedure. Our experience demonstrated encouraging results to expand the use of this approach to bridge high-risk patients with diminutive pulmonary arteries to a second step of surgical repair.

Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results.

A comprehensive description of morbidity and mortality in patients affected by mutations in genes encoding for signal transducers of the RAS-MAPK cascade (RASopathies) was performed in our study recently published in the International Journal of Cardiology. Seven European cardiac centres participating to the CArdiac Rasopathy NETwork (CARNET), collaborated in this multicentric, observational, retrospective data analysis and collection. In this study, clinical records of 371 patients with confirmed molecular diagnosis of RASopathy were reviewed. Cardiac defects, crude mortality, survival rate of patients with 1) hypertrophic cardiomyopathy (HCM) and age <2 years or young adults; 2) individuals with Noonan syndrome and pulmonary stenosis carrying PTPN11 mutations; 3) biventricular obstruction and PTPN11 mutations; 4) Costello syndrome or cardiofaciocutaneous syndrome were analysed. Mortality was described as crude mortality, cumulative survival and restricted estimated mean survival. In particular, with this Data In Brief (DIB) paper, the authors aim to report specific statistic highlights of the multivariable regression analysis that was used to assess the impact of mutated genes on number of interventions and overall prognosis.

Computed tomography image quality of aortic stents in patients with aortic coarctation: a multicentre evaluation.

BACKGROUND: Stents are commonly used to treat aortic coarctation. The objective of this study was to evaluate the post-implantation computed tomography (CT) image quality of different stent types used to treat aortic coarctation. METHODS: Adult and paediatric patients with stent-treated aortic coarctation who underwent contrast-enhanced CT were retrospectively included from three tertiary care centres. CT scans were subjectively scored for image quality using a 4-point scale (1 = unacceptable; 2 = poor; 3 = good; 4 = excellent). Furthermore, the amount of stent-induced blooming artefacts was measured as the percentage of the difference between outer and inner stent diameters over the outer stent diameter. RESULTS: A total of 35 children and 34 adults implanted with 71 stents of six different types were included. The most commonly used stent type was the Cheatham Platinum stent (52 stents, 73%). The subjective image quality of the Cheatham Platinum stents was moderate with a score of 2.0±0.8 (mean ± standard deviation) in children and 2.3±0.6 in adults. The image quality in patients with Formula stents was 2.3±1.2. The Cheatham Platinum stents induced 34-48% blooming, the Formula stents 44-55%. The image quality in patients with the less commonly used Atrium Advanta V12, IntraStent, AndraStent and Palmaz stents was scored 3 (good) to 4 (excellent) with less blooming. The electrocardiographic gating and tube voltage (kVp) did not affect image quality. CONCLUSIONS: There is a substantial variation in CT image quality and blooming artefacts for different stent types used to treat aortic coarctation.

Complications After Stent Placement for Aortic Coarctation: A Pictorial Essay of Computed Tomographic Angiography.

Stent placement is commonly used to treat aortic coarctation. Although invasive angiography remains the gold standard, follow-up is often performed using computed tomography, which allows rapid, noninvasive assessment of the aorta and surrounding tissues. The goal of this pictorial essay is to provide a guide to the interpretation of these examinations. Normal and abnormal computed tomographic appearance of different stent types is shown along with reconstructions that can help assess stent integrity and the stent position in relation to the aortic wall and branches. Furthermore, imaging findings of complications including aortic wall injuries, restenosis, and intimal hyperplasia are depicted.

Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results.

BACKGROUND: RASopathies are developmental disease caused by mutations in genes encoding for signal transducers of the RAS-MAPK cascade. The aim of the present study was to provide a comprehensive description of morbidity and mortality in patients with molecularly confirmed RASopathy. METHODS: A multicentric, observational, retrospective study was conducted in seven European cardiac centres participating to the CArdiac Rasopathy NETwork (CARNET). Clinical records of 371 patients with confirmed molecular diagnosis of RASopathy were reviewed. Mortality was described as crude mortality, cumulative survival and restricted estimated mean survival. Multivariable regression analysis was used to assess the impact of mutated genes on number of interventions and overall prognosis. RESULTS: Cardiac defects occurred in 80.3% of cases, almost half of them underwent at least one intervention. Overall, crude mortality was 0.29/100 patients-year. Cumulative survival was 98.8%, 98.2%, 97.7%, 94.3%, at 1, 5, 10, and 20years, respectively. Restricted estimated mean survival at 20years follow-up was 19.6years. Ten patients died (2.7% of the entire cohort; 3.4% of patients with cardiac defect). Patients with hypertrophic cardiomyopathy (HCM) and age <2years or young adults, as well as subjects with biventricular obstruction and PTPN11 mutations had a higher risk of cardiac death. CONCLUSIONS: The risk of intervention was higher in individuals with Noonan syndrome and pulmonary stenosis carrying PTPN11 mutations. Overall, mortality was relatively low, even though the specific association between HCM, biventricular outflow tract obstructions and PTPN11 mutations appeared to be associated with early mortality, including immediate post-operative events and sudden death.