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1.
Cardiol Young ; 34(3): 588-596, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37641941

RESUMEN

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.


Asunto(s)
Cardiología , Aprendizaje , Humanos , Niño , Cateterismo Cardíaco , Simulación por Computador , Ecocardiografía
2.
Heart Fail Rev ; 28(5): 1023-1031, 2023 09.
Artículo en Inglés | MEDLINE | ID: mdl-37222928

RESUMEN

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.


Asunto(s)
Fibroelastosis Endocárdica , Humanos , Lactante , Niño , Preescolar , Fibroelastosis Endocárdica/complicaciones , Fibroelastosis Endocárdica/diagnóstico , Endocardio , Diagnóstico Diferencial
3.
Pediatr Transplant ; 27(3): e14474, 2023 05.
Artículo en Inglés | MEDLINE | ID: mdl-36717958

RESUMEN

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.


Asunto(s)
Trasplante de Corazón , Síndrome de Enclaustramiento , Mielinólisis Pontino Central , Masculino , Humanos , Niño , Tacrolimus/efectos adversos , Imagen por Resonancia Magnética , Sirolimus , Trasplante de Corazón/efectos adversos
4.
Pediatr Cardiol ; 43(6): 1373-1378, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-35257196

RESUMEN

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.


Asunto(s)
Cardiopatías Congénitas , Defectos del Tabique Interventricular , No Compactación Aislada del Miocardio Ventricular , Ecocardiografía , Cardiopatías Congénitas/diagnóstico por imagen , Defectos del Tabique Interventricular/diagnóstico por imagen , Defectos del Tabique Interventricular/cirugía , Humanos , No Compactación Aislada del Miocardio Ventricular/diagnóstico por imagen , Miocardio , Función Ventricular Izquierda
5.
Cardiol Young ; 32(12): 1966-1983, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-35227341

RESUMEN

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.


Asunto(s)
Cardiología , Humanos , Adulto , Niño , Cardiología/educación , Certificación , Curriculum , Becas , Europa (Continente)
6.
Transpl Int ; 34(5): 882-893, 2021 05.
Artículo en Inglés | MEDLINE | ID: mdl-33482021

RESUMEN

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.


Asunto(s)
Trasplante de Corazón , Neoplasias , Neoplasias Cutáneas , Estudios de Cohortes , Femenino , Trasplante de Corazón/efectos adversos , Humanos , Incidencia , Masculino , Neoplasias/epidemiología , Neoplasias/etiología , Pronóstico , Factores de Riesgo , Neoplasias Cutáneas/epidemiología , Neoplasias Cutáneas/etiología
7.
Pediatr Cardiol ; 41(1): 217-219, 2020 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-31897523

RESUMEN

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.


Asunto(s)
Enfermedad de la Arteria Coronaria/etiología , Everolimus/efectos adversos , Fístula/etiología , Inmunosupresores/efectos adversos , Preescolar , Angiografía Coronaria , Enfermedad de la Arteria Coronaria/diagnóstico por imagen , Fístula/diagnóstico por imagen , Trasplante de Corazón , Humanos , Masculino
8.
JIMD Rep ; 64(2): 123-128, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-36873091

RESUMEN

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.

9.
Open Heart ; 10(2)2023 Dec 14.
Artículo en Inglés | MEDLINE | ID: mdl-38097363

RESUMEN

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.


Asunto(s)
Cardiólogos , Cardiología , Cardiopatías Congénitas , Humanos , Adulto , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/epidemiología , Cardiopatías Congénitas/terapia , Cardiología/educación , Calidad de la Atención de Salud , Europa (Continente)/epidemiología
10.
Circ Genom Precis Med ; 13(5): 504-514, 2020 10.
Artículo en Inglés | MEDLINE | ID: mdl-32870709

RESUMEN

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.


Asunto(s)
Cardiomiopatías/genética , Acetil-CoA Carboxilasa/genética , Adolescente , Cardiomiopatías/diagnóstico , Niño , Preescolar , Proteínas de Unión al ADN/genética , Femenino , Pruebas Genéticas/métodos , Homocigoto , Humanos , Lactante , Recién Nacido , L-Aminoadipato-Semialdehído Deshidrogenasa/genética , Masculino , Linaje , Factores de Transcripción/genética , Secuenciación del Exoma
11.
Rev Esp Cardiol (Engl Ed) ; 69(3): 300-9, 2016 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-26856793

RESUMEN

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. We highlight the role of multidisciplinary referral units in the diagnosis and treatment of these conditions.


Asunto(s)
Algoritmos , Enfermedades Cardiovasculares/terapia , Muerte Súbita Cardíaca/prevención & control , Arritmias Cardíacas/complicaciones , Arritmias Cardíacas/diagnóstico , Arritmias Cardíacas/genética , Arritmias Cardíacas/terapia , Síndrome de Brugada/complicaciones , Síndrome de Brugada/diagnóstico , Síndrome de Brugada/genética , Síndrome de Brugada/terapia , Cardiomiopatía Dilatada/complicaciones , Cardiomiopatía Dilatada/diagnóstico , Cardiomiopatía Dilatada/genética , Cardiomiopatía Dilatada/terapia , Cardiomiopatía Hipertrófica Familiar/complicaciones , Cardiomiopatía Hipertrófica Familiar/diagnóstico , Cardiomiopatía Hipertrófica Familiar/genética , Cardiomiopatía Hipertrófica Familiar/terapia , Enfermedades Cardiovasculares/complicaciones , Enfermedades Cardiovasculares/diagnóstico , Enfermedades Cardiovasculares/genética , Canalopatías/complicaciones , Canalopatías/diagnóstico , Canalopatías/genética , Canalopatías/terapia , Muerte Súbita Cardíaca/etiología , Predisposición Genética a la Enfermedad , Humanos , Síndrome de Loeys-Dietz/complicaciones , Síndrome de Loeys-Dietz/diagnóstico , Síndrome de Loeys-Dietz/genética , Síndrome de Loeys-Dietz/terapia , Síndrome de QT Prolongado/complicaciones , Síndrome de QT Prolongado/diagnóstico , Síndrome de QT Prolongado/genética , Síndrome de QT Prolongado/terapia , Síndrome de Marfan/complicaciones , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/genética , Síndrome de Marfan/terapia , Guías de Práctica Clínica como Asunto , Taquicardia Ventricular/complicaciones , Taquicardia Ventricular/diagnóstico , Taquicardia Ventricular/genética , Taquicardia Ventricular/terapia
12.
Med Clin (Barc) ; 137(13): 596-9, 2011 Nov 19.
Artículo en Español | MEDLINE | ID: mdl-21955540

RESUMEN

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. RESULTS: A total of 12 patients were studied (8% of all cardiomyopathies), 9 boys and three girls, with a median age at diagnosis of 6 months (range: birth-8.8 years). Fifty percent had an onset with cardiac symptoms and heart failure was associated with an earlier diagnosis of the disease (P<.05). On ultrasound 10 patients had ventricular hypertrophy, which was associated with mitochondrial and lysosomal disease; only 2 patients had ventricular dilatation, which was associated with altered fatty acid metabolism (P<.05). The median survival was 5 months (range: 2-11 months). No variable was significantly associated with the likelihood of death. CONCLUSIONS: Patients with heart failure at onset are diagnosed earlier (before 3 months of life). Echocardiography helps in the diagnosis and monitoring of metabolic disease.


Asunto(s)
Cardiomiopatías/etiología , Errores Innatos del Metabolismo/complicaciones , Factores de Edad , Cardiomiopatías/diagnóstico , Cardiomiopatías/mortalidad , Cardiomiopatías/terapia , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Estimación de Kaplan-Meier , Masculino , Errores Innatos del Metabolismo/diagnóstico , Errores Innatos del Metabolismo/mortalidad , Errores Innatos del Metabolismo/terapia , Estudios Retrospectivos
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