Assessment for learning of paediatric cardiology trainees in 41 centres from 19 European countries.

BACKGROUND: Limited data exist on how trainees in paediatric cardiology are assessed among countries affiliated with the Association of European Paediatric and Congenital Cardiology. METHODS: A structured and approved questionnaire was circulated to educationalists/trainers in 95 Association for European Paediatric and Congenital Cardiology training centres. RESULTS: Trainers from 46 centres responded with complete data in 41 centres. Instructional design included bedside teaching (41/41), didactic teaching (38/41), problem-based learning (28/41), cardiac catheterisation calculations (34/41), journal club (31/41), fellows presenting in the multidisciplinary meeting (41/41), fellows reporting on echocardiograms (34/41), clinical simulation (17/41), echocardiography simulation (10/41), and catheterisation simulation (3/41). Assessment included case-based discussion (n = 27), mini-clinical evaluation exercise (mini-CEX) (n = 12), directly observed procedures (n = 12), oral examination (n = 16), long cases (n = 11), written essay questions (n = 6), multiple choice questions (n = 5), and objective structured clinical examination (n = 2). Entrustable professional activities were utilised in 10 (24%) centres. Feedback was summative only in 17/41 (41%) centres, formative only in 12/41 (29%) centres and a combination of formative and summative feedback in 10/41 (24%) centres. Written feedback was provided in 10/41 (24%) centres. Verbal feedback was most common in 37/41 (90 %) centres. CONCLUSION: There is a marked variation in instructional design and assessment across European paediatric cardiac centres. A wide mix of assessment tools are used. Feedback is provided by the majority of centres, mostly verbal summative feedback. Adopting a programmatic assessment focusing on competency/capability using multiple assessment tools with regular formative multisource feedback may promote assessment for learning of paediatric cardiology trainees.

Adult congenital heart disease training in Europe: current status, disparities and potential solutions.

OBJECTIVES: This study aimed to determine the status of training of adult congenital heart disease (ACHD) cardiologists in Europe. METHODS: A questionnaire was sent to ACHD cardiologists from 34 European countries. RESULTS: Representatives from 31 of 34 countries (91%) responded. ACHD cardiology was recognised by the respective ministry of Health in two countries (7%) as a subspecialty. Two countries (7%) have formally recognised ACHD training programmes, 15 (48%) have informal (neither accredited nor certified) training and 14 (45%) have very limited or no programme. Twenty-five countries (81%) described training ACHD doctors 'on the job'. The median number of ACHD centres per country was 4 (range 0-28), median number of ACHD surgical centres was 3 (0-26) and the median number of ACHD training centres was 2 (range 0-28). An established exit examination in ACHD was conducted in only one country (3%) and formal certification provided by two countries (7%). ACHD cardiologist number versus gross domestic product Pearson correlation coefficient=0.789 (p<0.001). CONCLUSION: Formal or accredited training in ACHD is rare among European countries. Many countries have very limited or no training and resort to 'train people on the job'. Few countries provide either an exit examination or certification. Efforts to harmonise training and establish standards in exit examination and certification may improve training and consequently promote the alignment of high-quality patient care.

Endocardial fibroelastosis in infants and young children: a state-of-the-art review.

Endocardial fibroelastosis (EFE) is a rare cardiac condition characterized by excessive endocardial thickening secondary to fibroelastic tissues that commonly present in infants and young children. Most of endocardial fibroelastosis cases are secondary forms, which occur in conjunction with other cardiac diseases. Endocardial fibroelastosis has been associated with poor prognosis and outcomes. In light of recent advancements in understanding pathophysiology, several new data have revealed compelling evidence that abnormal endothelial-to-mesenchymal transition is the root cause of endocardial fibroelastosis. This article aims to review the recent development in pathophysiology, diagnostic workup, and management, and to discuss possible differential diagnoses.

Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1-CDG).

We report successful heart transplantation in a phosphoglucomutase 1 deficient (PGM1-CDG) patient. She presented with facial dysmorphism, bifid uvula and structural heart defects. Newborn screening was positive for classic galactosemia. The patient was on a galactose-free diet for 8 months. Eventually, whole exome sequencing excluded the galactosemia and revealed PGM1-CDG. Oral D-galactose therapy was started. Rapid deterioration of the progressive dilated cardiomyopathy prompted heart transplantation at the age of 12 months. Cardiac function was stable in the first 18 months of follow-up, and hematologic, hepatic, and endocrine laboratory findings improved during D-galactose therapy. The latter therapy improves several systemic symptoms and biochemical abnormalities in PGM1-CDG but does not correct the heart failure related to cardiomyopathy. Heart transplantation has so far only been described in DOLK-CDG.

Central pontine myelinolysis and locked-IN syndrome associated with tacrolimus after pediatric heart transplantation.

BACKGROUND: Locked-in syndrome represents the most severe form of central pontine myelinolysis and varies in presentation from asymptomatic to fully developed locked-in-syndrome characterized by the combination of quadriplegia, loss of the ability to communicate except through the use of the eyes, and an inability to follow commands. METHODS: We report a 10-year-old boy who developed a severe case of locked-in syndrome after heart transplantation. RESULTS: Patient had a spontaneous recovery, treated with supportive treatment and the improvement was detected with cessation of calcineurin inhibitor therapy by substituting with an mTOR inhibitor (sirolimus). No cases of locked-in syndrome post-heart transplant in pediatrics cases have been documented in the literature. CONCLUSION: Physicians should recognize a rapid progression of central pontine myelinolysis and locked-in syndrome in the context of heart transplant and although several factors likely contributed to this outcome, adjustment of immunosuppression including by substituting tacrolimus with sirolimus could be effective.

Association of Myocardial Muscle Non-Compaction and Multiple Ventricular Septal Defects by Echocardiography.

The aim of this study is to examine the possible high association between multiple ventricular septal defect (mVSDs) and noncompaction cardiomyopathy (NCM) as same embryological origin, and the effect of depressed ventricular function in NCM cases during the follow-up, using echocardiography. A total of 150 patients with mVSDs were diagnosed in a single center in Saudi Arabia; 40 cases with isolated or associated with minor congenital heart disease were recruited. Three specialist echocardiography consultants confirmed the NCM diagnosis separately using Jenni, Chin and Patrick criteria, and myocardial function was estimated by ejection fraction at admission and at follow-up after surgery. Stata-14 to analyze the data was used. In our cohort of 40 cases with mVSD (median age at diagnosis = 0.5 years; mean follow-up = 4.84 years), 13(33%) had criteria of non-compaction confirmed by the three specialist consultants. All were operated by surgery and 11 hybrid approach (interventional & surgery). A significant relationship between abnormal trabeculations and mVSD with or without non-compaction was observed, 34% vs 66% respectively (p < 0.03, Fisher's exact test). A repeated-measures t-test found the difference between follow-up and preoperative ejection-fractions to be statistically significant (t (39) = 2.07, p < 0.04). Further, the myocardial function in the mVSD non-compaction group normalized substantially postoperatively compared with preoperative assessment (mean difference (MD) 11.77, 95% CI: 4.40-19.14), whilst the mVSD group with normal myocardium had no significant change in the myocardium function (MD 0.74, 95% CI: -4.10-5.58). Thus, treatment outcome appears better in the mVSD non-compaction group than their peers with normal myocardium. Acknowledging the lack of genetic data, it is evident the high incidence of non-compaction in this cohort of patients with mVSD and supports our hypothesis of embryonic/genetic link, unlikely to be explained by acquired cardiomyopathy.

Paediatric and adult congenital cardiology education and training in Europe.

BACKGROUND: Limited data exist on training of European paediatric and adult congenital cardiologists. METHODS: A structured and approved questionnaire was circulated to national delegates of Association for European Paediatric and Congenital Cardiology in 33 European countries. RESULTS: Delegates from 30 countries (91%) responded. Paediatric cardiology was not recognised as a distinct speciality by the respective ministry of Health in seven countries (23%). Twenty countries (67%) have formally accredited paediatric cardiology training programmes, seven (23%) have substantial informal (not accredited or certified) training, and three (10%) have very limited or no programme. Twenty-two countries have a curriculum. Twelve countries have a national training director. There was one paediatric cardiology centre per 2.66 million population (range 0.87-9.64 million), one cardiac surgical centre per 4.73 million population (range 1.63-10.72 million), and one training centre per 4.29 million population (range 1.63-10.72 million population). The median number of paediatric cardiology fellows per training programme was 4 (range 1-17), and duration of training was 3 years (range 2-5 years). An exit examination in paediatric cardiology was conducted in 16 countries (53%) and certification provided by 20 countries (67%). Paediatric cardiologist number is affected by gross domestic product (R2 = 0.41). CONCLUSION: Training varies markedly across European countries. Although formal fellowship programmes exist in many countries, several countries have informal training or no training. Only a minority of countries provide both exit examination and certification. Harmonisation of training and standardisation of exit examination and certification could reduce variation in training thereby promoting high-quality care by European congenital cardiologists.

Reciprocal interferences of the left ventricular assist device and the aortic valve competence.

Patients suffering from end-stage heart failure tend to have high mortality rates. With growing numbers of patients progressing into severe heart failure, the shortage of available donors is a growing concern, with less than 10% of patients undergoing cardiac transplantation (CTx). Fortunately, the use of left ventricular assist devices (LVADs), a variant of mechanical circulatory support has been on the rise in recent years. The expansion of LVADs has led them to be incorporated into a variety of clinical settings, based on the goals of therapy for patients ailing from heart failure. However, with an increase in the use of LVADs, there are a host of complications that arise with it. One such complication is the development and progression of aortic regurgitation (AR) which is noted to adversely influence patient outcomes and compromise pump benefits leading to increased morbidity and mortality. The underlying mechanisms are likely multifactorial and involve the aortic root-aortic valve (AV) complex, as well as the LVAD device, patient, and other factors, all of them alter the physiological mechanics of the heart resulting in AV dysfunction. Thus, it is imperative to screen patients before LVAD implantation for AR, as moderate or greater AR requires a concurrent intervention at the time of LVADs implantation. No current strict guidelines were identified in the literature search on how to actively manage and limit the development and/or progression of AR, due to the limited information. However, some recommendations include medical management by targeting fluid overload and arterial blood pressure, along with adjusting the settings of the LVADs device itself. Surgical interventions are to be considered depending on patient factors, goals of care, and the underlying pathology. These interventions include the closure of the AV, replacement of the valve, and percutaneous approach via percutaneous occluding device or transcatheter aortic valve implantation. In the present review, we describe the interaction between AV and LVAD placement, in terms of patient management and prognosis. Also it is provided a comprehensive echocardiographic strategy for the precise assessment of AV regurgitation severity.

Heart failure in systemic right ventricle: Mechanisms and therapeutic options.

d-loop transposition of the great arteries (d-TGA) and congenitally corrected transposition of the great arteries (cc-TGA) feature a right ventricle attempting to sustain the systemic circulation. A systemic right ventricle (sRV) cannot support cardiac output in the long run, eventually decompensating and causing heart failure. The burden of d-TGA patients with previous atrial switch repair and cc-TGA patients with heart failure will only increase in the coming years due to the aging adult congenital heart disease population and improvements in the management of advanced heart failure. Clinical data still lags behind in developing evidence-based guidelines for risk stratification and management of sRV patients, and clinical trials for heart failure in these patients are underrepresented. Recent studies have provided foundational data for the commencement of robust clinical trials in d-TGA and cc-TGA patients. Further insights into the multifactorial nature of sRV failure can only be provided by the results of such studies. This review discusses the mechanisms of heart failure in sRV patients with biventricular circulation and how these mediators may be targeted clinically to alleviate sRV failure.

A complex unit for a complex disease: the HCM-Family Unit.

Hypertrophic cardiomyopathy (HCM) is a group of heterogeneous disorders that are most commonly passed on in a heritable manner. It is a relatively rare disease around the globe, but due to increased rates of consanguinity within the Kingdom of Saudi Arabia, we speculate a high incidence of undiagnosed cases. The aim of this paper is to elucidate a systematic approach in dealing with HCM patients and since HCM has variable presentation, we have summarized differentials for diagnosis and how different subtypes and genes can have an impact on the clinical picture, management and prognosis. Moreover, we propose a referral multi-disciplinary team HCM-Family Unit in Saudi Arabia and an integrated role in a network between King Faisal Hospital and Inherited and Rare Cardiovascular Disease Unit-Monaldi Hospital, Italy (among the 24 excellence centers of the European Reference Network (ERN) GUARD-Heart).   Graphical Abstract.

The pulmonary vascular bed in patients with functionally univentricular physiology and a Fontan circulation.

Fontan palliation represents one of the most remarkable surgical advances in the management of individuals born with functionally univentricular physiology. The operation secures adult survival for all but a few with unfavourable anatomy and/or physiology. Inherent to the physiology is passive transpulmonary blood flow, which produces a vulnerability to adequate filling of the systemic ventricle at rest and during exertion. Similarly, the upstream effects of passive flow in the lungs are venous congestion and venous hypertension, especially marked during physical activity. The pulmonary vascular bed has emerged as a defining character on the stage of Fontan circulatory behaviour and clinical outcomes. Its pharmacologic regulation and anatomic rehabilitation therefore seem important strategic therapeutic targets. This review seeks to delineate the important aspects of pulmonary artery development and maturation in functionally univentricular physiology patients, pulmonary artery biology, pulmonary vascular reserve with exercise, and pulmonary artery morphologic and pharmacologic rehabilitation.

Malignancy following heart transplantation: differences in incidence and prognosis between sexes - a multicenter cohort study.

Male patients are at increased risk for developing malignancy postheart transplantation (HT); however, real incidence and prognosis in both genders remain unknown. The aim of this study was to assess differences in incidence and mortality related to malignancy between genders in a large cohort of HT patients. Incidence and mortality rates were calculated for all tumors, skin cancers (SCs), lymphoma, and nonskin solid cancers (NSSCs) as well as survival since first diagnosis of neoplasia. 5865 patients (81.6% male) were included. Total incidence rates for all tumors, SCs, and NSSCs were lower in females [all tumors: 25.7 vs. 44.8 per 1000 person-years; rate ratio (RR) 0.68, (0.60-0.78), P < 0.001]. Mortality rates were also lower in females for all tumors [94.0 (77.3-114.3) vs. 129.6 (120.9-138.9) per 1000 person-years; RR 0.76, (0.62-0.94), P = 0.01] and for NSSCs [125.0 (95.2-164.0) vs 234.7 (214.0-257.5) per 1000 person-years; RR 0.60 (0.44-0.80), P = 0.001], albeit not for SCs or lymphoma. Female sex was associated with a better survival after diagnosis of malignancy [log-rank p test = 0.0037; HR 0.74 (0.60-0.91), P = 0.004]. In conclusion, incidence of malignancies post-HT is higher in males than in females, especially for SCs and NSSCs. Prognosis after cancer diagnosis is also worse in males.

Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy.

BACKGROUND: Childhood-onset cardiomyopathy is a heterogeneous group of conditions the cause of which is largely unknown. The influence of consanguinity on the genetics of cardiomyopathy has not been addressed at a large scale. METHODS: To unravel the genetic cause of childhood-onset cardiomyopathy in a consanguineous population, a categorized approach was adopted. Cases with childhood-onset cardiomyopathy were consecutively recruited. Based on the likelihood of founder mutation and on the clinical diagnosis, genetic test was categorized to either (1) targeted genetic test with targeted mutation test, single-gene test, or multigene panel for Noonan syndrome, or (2) untargeted genetic test with whole-exome sequencing or whole-genome sequencing. Several bioinformatics tools were used to filter the variants. RESULTS: Two-hundred five unrelated probands with various forms of cardiomyopathy were evaluated. The median age of presentation was 10 months. In 30.2% (n=62), targeted genetic test had a yield of 82.7% compared with 33.6% for whole-exome sequencing/whole-genome sequencing (n=143) giving an overall yield of 53.7%. Strikingly, 96.4% of the variants were homozygous, 9% of which were found in 4 dominant genes. Homozygous variants were also detected in 7 novel candidates (ACACB, AASDH, CASZ1, FLII, RHBDF1, RPL3L, ULK1). CONCLUSIONS: Our work demonstrates the impact of consanguinity on the genetics of childhood-onset cardiomyopathy, the value of adopting a categorized population-sensitive genetic approach, and the opportunity of uncovering novel genes. Our data suggest that if a founder mutation is not suspected, adopting whole-exome sequencing/whole-genome sequencing as a first-line test should be considered.

Spontaneous "Coronary Bypass" in a Paediatric Transplanted Heart.

We report an asymptomatic 5-year-old boy with coronary artery fistulas to pulmonary parenchyma and to systemic thoracic arteries, like a "natural bypass", detected during a coronary angiography performed 11 months after his heart transplant. One year later, a new coronary angiography showed no fistula. Some changes to immunosuppressive therapy during this time could be related to this evolution.

Septostomía auricular en niños con hipertensión pulmonar / Atrial septostomy in children with pulmonary hypertension

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Situación actual de la organización, recursos y actividad en cardiología pediátrica en España / Current situation of the organisation, resources and activity in paediatric cardiology in Spain

Introducción: Presentamos el trabajo "situación actual de la organización, recursos y actividad en cardiología pediátrica en España", promovido por la Sociedad Española de Cardiología Pediátrica y Cardiopatía Congénitas. Material y métodos: El estudio se elaboró con los resultados obtenidos de un cuestionario elaborado por la Sociedad Española de Cardiología Pediátrica y Cardiopatía Congénitas, remitido a todos los hospitales del territorio nacional con actividad en cardiología pediátrica. Resultados: Ochenta y seis respondieron el cuestionario, 14 de los cuales disponen de cirugía cardíaca infantil. Los recursos humanos incluyen 190 médicos, 40 cirujanos y 27 MIR. Todos los hospitales disponen de material para el diagnóstico inicial adecuado, y solo los hospitales terciarios disponen de técnicas de diagnóstico específico, cardiología intervencionista y cirugía cardíaca. La atención a los pacientes, en consulta externas y en la hospitalización es realizada o supervisada mayoritariamente por cardiólogos pediátricos. Existe diversidad en los profesionales que realizan las ecocardiografías fetales, ya que en un porcentaje considerable de hospitales sigue siendo realizada en exclusiva por los obstetras. El número de procedimientos diagnósticos y terapéuticos fueron similares al registro previo, con un leve descenso de cirugía cardíaca cerrada y un aumento proporcional de cateterismos terapéuticos. Conclusiones: La cardiología pediátrica en España es realizada por pediatras con formación en cardiología pediátrica mayoritariamente. La mayoría de los centros disponen de medios adecuados de diagnóstico, y solo los hospitales terciarios cuentan con técnicas de diagnóstico específico, cardiología intervencionista y cirugía cardíaca. En futuros estudios, debemos no únicamente cuantificar las técnicas de diagnóstico y tratamiento sino también, aspirar a la cuantificación de resultados clínicos

Introduction: The results are presented on the "current situation of the organisation, resources and activity in paediatric cardiology in Spain". It was promoted by the Spanish Society of Paediatric Cardiology and Congenital Heart disease. Material and methods: An analysis was carried out on the results obtained from a specifically designed questionnaire, prepared by the Spanish Society of Paediatric Cardiology and Congenital Heart disease, that was sent to all hospitals around the country that offer the speciality of paediatric cardiology. Results: A total of 86 questionnaires were obtained, including 14 hospitals that perform cardiac surgery on children. A total of 190 paediatric cardiology consultants, 40 cardiac surgeons, and 27 middle grade doctors performing their paediatric residency (MIR program) were identified. All hospitals had adequate equipment to perform an optimal initial evaluation of any child with a possible cardiac abnormality, but only tertiary centres could perform complex diagnostic procedures, interventional cardiology, and cardiac surgery. In almost all units around the country, paediatric cardiology consultants were responsible for outpatient clinics and hospital admissions, whereas foetal cardiology units were still mainly managed by obstetricians. The number of diagnostic and therapeutic procedures was similar to those reported in the first survey, except for a slight decrease in the total number of closed cardiac surgery procedures, and a proportional increase in the number of therapeutic catheterisations. Conclusions: Paediatric Cardiology in Spain is performed by paediatric cardiology consultants that were trained initially as general paediatricians, and then completed a paediatric cardiology training period. Almost all units have adequate means for diagnosis and treatment. Efforts should be directed to create a national registry that would not only allow a prospective quantification of diagnostic and therapeutic procedures, but also focus on their clinical outcomes

Caracterización y factores de riesgo de dilatación aórtica en pacientes pediátricos con válvula aórtica bicúspide / Characterization and risk factors for aortic dilatation in pediatric patients with bicuspid aortic valve

Introducción y objetivos: La dilatación de la aorta ascendente asociada a válvula aórtica bicúspide es una causa mayor de morbimortalidad en adultos. El objetivo principal fue reconocer la afectación aórtica en niños, así como sus características y factores de riesgo. Métodos: Se realizaron retrospectivamente las mediciones aórticas de todos los pacientes pediátricos con válvula aórtica bicúspide seguidos en un hospital pediátrico terciario entre 1997 y 2015. Se excluyeron los pacientes con síndromes asociados a dilatación aórtica (n=17). Resultados: Se incluyeron 206 pacientes, de los cuales el 67,9% eran varones. El patrón de apertura más común fue horizontal: 137 (66,7%). La mitad de los pacientes (101) tenía historia de coartación aórtica, 46 de ellos (22,3%) con estenosis aórtica≥moderada y 13 (6%) con insuficiencia aórtica≥moderada. El seguimiento medio fue de 6,1 (4,9) años; el diagnóstico de dilatación aórtica se realizó durante el primer año de seguimiento. La progresión de la dilatación de la aorta ascendente se documentó en el 17,1%, y en el 2,5% en la raíz aórtica. Más de un tercio (80/206) presentó dilatación aórtica (z-score>2). La afectación exclusiva de la aorta ascendente se produjo en 70/80 pacientes, con preservación de la raíz aórtica. En el análisis multivariado, los pacientes con dilatación de la aorta ascendente se asociaron a ausencia de coartación (p=0,001) y patrón de apertura vertical (p=0,007). Conclusiones: Está justificado el seguimiento en los pacientes pediátricos con válvula aórtica bicúspide debido a la frecuente asociación con disfunción valvular y/o dilatación aórtica (AU)

Introduction and objectives: Dilatation of the ascending aorta associated with bicuspid aortic valve is a major cause of morbidity and mortality in adults. The main objective was to recognize the aortic involvement in children, its characteristics and risk factors. Methods: Aortic measures of all pediatric patients with bicuspid aortic valve followed in a tertiary pediatric hospital between 1997 and 2015 were retrospectively taken. Patients with syndromes associated with aortic dilatation were excluded (n=17). Results: Two hundred and six patients were included, 67.9% males. The commonest opening pattern was horizontal: 137 (66.7%). Half of the patients (101) had a history of surgical aortic coarctation, 46 (22.3%) had≥moderate aortic valve stenosis and 13 (6%) had≥moderate aortic insufficiency. Mean follow-up time was 6.1 (4.9) years; diagnosis of aortic dilatation was made during the first year of follow-up. Progression of the dilatation of the ascending aorta was noted in 17.1%, and of the aortic root in 2.5%. More than one-third (80/206) had aortic dilatation (z-score>2). The ascending aorta was exclusively affected in 70/80 patients, with sparing of the aortic root. In the multivariate analysis, patients with dilatation of the ascending aorta were associated with absence of coarctation (P=.001) and vertical opening pattern (P=.007). Conclusions: Pediatric patients with bicuspid aortic valve warrant medical follow-up for the frequent association with valve impairment and/or dilatation of the ascending aorta (AU)