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.

Variable phenotype of a null PPP1R13L allele in children with dilated cardiomyopathy.

Childhood-onset cardiomyopathy is a genetically heterogeneous group of conditions with several genes implicated. Recently, biallelic loss-of-function variants in PPP1R13L have been reported in association with a syndromic form of dilated cardiomyopathy (DCM). In addition, affected children manifest skin and hair abnormalities, cleft lip and palate (CLP), and eye findings.

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.

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.

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.

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).

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.

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.

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.

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.

Spanish Heart Transplant Registry. 31th Official Report of the Heart Failure Association of the Spanish Society of Cardiology.

Introduction And Objectives: The present report describes the clinical characteristics and outcomes of heart transplants in Spain and updates the data to 2019.

Methods: We describe the clinical characteristics and outcomes of heart transplants performed in Spain in 2019, as well as trends in this procedure from 2010 to 2018.

Results: In 2019, 300 transplants were performed (8794 since 1984; 2745 between 2010 and 2019).

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.

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.

Plan of Action for Inherited Cardiovascular Diseases: Synthesis of Recommendations and Action Algorithms.

The term inherited cardiovascular disease encompasses a group of cardiovascular diseases (cardiomyopathies, channelopathies, certain aortic diseases, and other syndromes) with a number of common characteristics: they have a genetic basis, a familial presentation, a heterogeneous clinical course, and, finally, can all be associated with sudden cardiac death. The present document summarizes some important concepts related to recent advances in sequencing techniques and understanding of the genetic bases of these diseases. We propose diagnostic algorithms and clinical practice recommendations and discuss controversial aspects of current clinical interest.

[Cardiomyopathy and inborn errors of metabolism in children. Study of 12 cases].

Background And Objective: Cardiomyopathy in childhood is a rare entity. Inborn errors of metabolism can cause myocardial involvement by several mechanisms.

Patients And Methods: Patients under 16 years diagnosed with cardiomyopathy and EIM in a period of 11 years (1998-2009) were included.

Severe foetal hypertrophic cardiomyopathy evolving to left ventricular non-compaction.

A 29-week-old male foetus was diagnosed by foetal echocardiography with severe hypertrophic cardiomyopathy with systolic dysfunction and generalized oedema, undergoing a Caesarean section at 33 weeks. Mechanical ventilation and milrinone infusion were required during the first week. Systolic function and output parameters improved progressively.

Congenital left ventricular subaortic aneurysm in an asymptomatic child.

A newborn was referred to our department, due to the presence of a cardiac murmur. Echocardiographic study showed a small membranous ventricular septal defect and a yuxta-aortic mass. In the follow-up, patient remained asymptomatic, ventricular septal defect closed, and yuxta-aortic mass increase in size with somatic growth.