Early assessment of cardiomyopathy in Duchenne patients by means of longitudinal strain echocardiography.

INTRODUCTION: The diagnosis of Duchenne-linked cardiomyopathy may be challenging. Conventional echocardiographic measurements typically show deterioration beyond the second decade. Global longitudinal strain has been proposed as an earlier marker than left ventricular ejection fraction. MATERIAL AND METHODS: A prospective, observational, cross-sectional, case-control study was carried out. Both Duchenne patients and control subjects underwent transthoracic echocardiogram in order to assess left ventricle function. Bayesian linear regression was the main tool for inference. Age effects were parameterised by means of a spline function because of its simplicity to characterise continuous variables and smooth contributions. The posterior distribution of the marginal age effects was used to assess the earliest age of deterioration of each marker. RESULTS: Sixteen Duchenne patients and twenty-two healthy male subjects were enrolled. On overage, cardiac function measures were found for ejection fraction and longitudinal strain among different groups. Age effects on global longitudinal strain are more reliably found at ages of 6 and above, while ejection fraction starts to deteriorate at an older age. Progressive left ventricular dysfunction in Duchenne patients is one of the key issues and starts at an early age with subtle symptoms. CONCLUSION: This cross-sectional study provides supporting evidence that global longitudinal strain is an earlier marker of disease progression than ejection fraction in Duchenne patients.

Right ventricle speckle tracking in bronchopulmonary dysplasia: one-year follow-up.

BACKGROUND: Bronchopulmonary dysplasia (BPD) is still a major concern in preterm infants and adequate screening methods for secondary right ventricle (RV) failure are needed. Early detection could be aided by taking measurements of RV deformation using speckle tracking echocardiography. A prospective longitudinal study was carried out over 28 months at a tertiary care pediatric cardiology center. Preterm infants < 32 weeks gestational age (GA) were eligible for the study. Enrolled patients were separated in two groups: NO-BPD or BPD. At three timepoints over the first year of life, echocardiogram measurements were performed. Right ventricle strain was studied using speckle tracking analysis and compared to conventional function parameters. RESULTS: Fifty patients were enrolled in the study, 22 in the NO-BPD group and 28 in the BPD group. RV strain showed no statistical differences between groups. However, the BPD group showed worse RV function than the NO-BPD group, using speckle tracking analysis and other conventional parameters. During the study follow-up, an improvement trend is shown in RV strain. CONCLUSIONS: RV longitudinal strain and strain rate derived by speckle tracking is feasible in preterm infants. Although there seems to be a good correlation between RV strain and BPD severity, the results of this study were not conclusive. More studies should be carried out to investigate the optimum echocardiographic screening model of RV dysfunction in BPD patients.

Evaluation of a digital health system (PAHcare™) for routine care of patients with pulmonary arterial hypertension: The CBS-PAH study protocol.

Introduction: Pulmonary arterial hypertension (PAH) is a rare, multifactorial, chronic condition that requires ongoing monitoring and assessment. PAHcare™ is a novel, patient-centered digital platform that provides software intended for use on patients' mobile phones (downloadable application) and web-based dashboards for use by physicians and health coaches (HC). We describe herein the protocol of a clinical study aimed at evaluating the clinical benefit and safety of PAHcare™ for the routine management of patients with PAH. Methods and analysis: In this prospective, single cohort, multicenter study, 50 patients with PAH will be recruited at six specialized PAH units from reference hospitals of the public Spanish healthcare system. The PAHcare™ digital health platform allows patients to log health and lifestyle information while also providing structured content for patient education, medication reminders, and behavioral and lifestyle coaching from a remote HC. Evaluation will be primarily focused on the impact of the platform use on the patient's health-related quality of life (HRQoL) via questionnaires completion through electronic patient-reported outcomes. Moreover, the analysis of the impact on the patient's functional status, signs and symptoms of PAH, patient costs and healthcare resource utilization, satisfaction, knowledge of the disease and its management, and adherence to and safety of the platform will be secondary outcomes. The clinical investigation started in July 2021 and is expected to end by September 2022. Discussion: The PAHcare™ platform is anticipated to provide direct benefits to healthcare professionals, patients, and caregivers. These include the simplification of the multidisciplinary approach needed to tailor routine PAH management, enhancement of the patient/healthcare professional interaction, patient's empowerment to become more actively involved in the management and treatment of the disease, and increase of the patient's and caregiver's knowledge on PAH.

Evolution of strain and strain rate values throughout gestation in healthy fetuses.

Myocardial deformation by speckle tracking echocardiography is a novel method for evaluating cardiac function. To test the hypothesis that right ventricular and left ventricular function have age-specific patterns of development, we tracked the evolution of ventricular strain mechanics by speckle tracking echocardiography in the fetus. We conducted a retrospective cross sectional echocardiography study in 154 healthy fetuses, and characterized cardiac function by measuring right and left ventricles global longitudinal strain and strain rate. Comparison of the data of both ventricles according to gestational age was carried out. The magnitudes of right and left ventricle global longitudinal strain show wide range values and decreased throughout gestation. Strain values are higher in left ventricle compared to the right one throughout pregnancy. Strain rate values were similar over gestation in each ventricle, but the magnitudes declined overtime in the right and left ventricle. The maturational patterns of left and right strain are gestational specific. With accepted physiological maturation patterns in healthy subjects, these myocardial deformation parameters can provide a valid basis that allows comparison between health and disease.

Taquicardia ventricular sostenida tras traumatismo torácico en un paciente con tetralogía de Fallot corregida / Sustained ventricular tachycardia after thoracic traumatism in a patient with repaired tetralogy of Fallot

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Evolución cardiológica postnatal y factores asociados a la agenesia de ductus venoso de diagnóstico prenatal / Postnatal cardiac outcomes associated with the prenatal diagnosis of absence of ductus venosus

Resumen Introducción: la agenesia del ductus venoso es una anomalía infrecuente con pronóstico variable. Puede ir de hallazgo aislado a producir muerte fetal. Así mismo, puede asociarse a otras anomalías y síndromes genéticos. Material y métodos: estudio descriptivo de 12 niños con diagnóstico prenatal de agenesia del ductus venoso. Se evaluó lugar de drenaje de vena umbilical, variables perinatales, obstétricas, otras anomalías asociadas y evolución. Resultados: el 75% (9/12) presentaba drenaje extrahepático de vena umbilical; de ellos, el 44,4% (4/9) presentó insuficiencia cardiaca fetal. Al nacimiento, un 50% (6/12) asociaba anomalías cardiacas estructurales y un 41,6% (5/12) precisaron tratamiento médico. El 25% (3/12) asociaba síndromes genéticos. 25% (3/12) de niños fallecieron (100% con cardiopatía), y un tercio de los supervivientes (3/9) presentó anomalías estructurales cardiacas. El 50% (6/12) de madres tenían antecedente de aborto o muerte fetal intraútero previa, 25% (3/12) de embarazos fueron producto de reproducción asistida y 25% (3/12) de gestaciones múltiples. Conclusiones: se halló una incidencia elevada de defectos estructurales cardiacos en niños con agenesia del ductus venoso. Son más usuales si el drenaje es extrahepático y en ellos hay mayor frecuencia de anomalías genéticas y mortalidad. Un porcentaje importante de pacientes precisan tratamiento perinatal; la evolución es satisfactoria en los supervivientes.

Abstract Introduction: The absence of ductus venosus is an uncommon condition with a variable prognosis, which can vary from an isolated finding to causing foetal death. Furthermore, it can also be associated with other genetic anomalies and syndromes. Material and method: A descriptive study was conducted on 12 children with a prenatal diagnosis of absence of ductus venosus. An evaluation was made of the umbilical vein drainage site, perinatal and obstetric variables, other associated anomalies, and the outcomes. Results: Extra-hepatic drainage of the umbilical vein was observed in 75% (9/12) of cases, of which 44.4% (4/9) had foetal heart failure. At birth, 50% (6/12) were associated with cardiac structure anomalies, and 41.6% (5/12) required medical treatment. Genetic syndromes were detected in 25% (3/12) of cases. There were 25% (3/12) deaths (100% with heart disease), and one-third (3/9) of the survivors had cardiac structure anomalies. A history of abortion or previous intrauterine death was recorded in 50% (6/12) of the mothers, and in 25% (3/12) the pregnancies were the result of assisted reproduction, and 25% (3/12) multiple gestations. Conclusions: An elevated incidence of cardiac structure defects is found in children with absence of ductus venosus. They are more common if the drainage is extrahepatic, and within those, there is a higher frequency of genetic anomalies and death. A significant percentage of patients require perinatal treatment: The outcome is satisfactory in the survivors.

Diagnóstico prenatal y repercusiones perinatales de la persistencia de vena cava superior izquierda. Serie de casos y revisión bibliográfica / Prenatal diagnosis and perinatal results of the persistent left superior vena cava. Cases series and literature review

Resumen Objetivo Describir las anomalías asociadas y las repercusiones perinatales de la persistencia de la vena cava superior izquierda en el feto y revisar la bibliografía. Materiales y métodos Estudio descriptivo, transversal y retrospectivo efectuado de enero de 2009 a diciembre 2012 en la Unidad de Diagnóstico Prenatal del Departamento de Obstetricia y Ginecología del Hospital Universitario Miguel Servet de Zaragoza, España. El estudio incluyó a todos los fetos con diagnóstico prenatal de persistencia de la vena cava superior izquierda establecido durante los controles gestacionales ecográficos. Resultados Se diagnosticaron 21 casos de persistencia de la vena cava superior izquierda entre las 20 y 35 semanas de embarazo. El 29% de los casos se detectó en la ecografía de las 20 semanas; 9 casos (43%) tuvieron anomalías cardiacas o extracardiacas asociadas y en 2 casos (10%) se encontró, además, trisomía 21, ambos con anomalías cardiacas asociadas. En 4 casos (19%) no hubo vena cava superior derecha. En los casos aislados la evolución fue favorable. Conclusiones Puesto que la persistencia de la vena cava superior izquierda se asocia, frecuentemente, con anomalías cardiacas y extracardiacas está justificada la ecografía morfológica fetal detallada y una ecocardiografía con posterior seguimiento antenatal. Si es aislada, la evolución obstétrica y el pronóstico perinatal serán favorables, como ha sucedido en los casos de persistencia de la vena cava superior izquierda aislados, con ausencia de vena cava superior derecha.

Abstract Objective To describe the associated anomalies and perinatal results in fetuses diagnosed with persistence of the left superior vena cava and to conduct a review of the literature. Materials and methods A descriptive, cross-sectional, retrospective study conducted between January 2009 and December 2012 in the Prenatal Diagnostic Unit of the Obstetrics and Gynecology Department at the Miguel Servet University Hospital in Zaragoza, Spain. The study included all fetuses with prenatal diagnosis of persistence of the left superior vena cava performed during gestational ultrasound controls in that period. Results 21 cases of persistence of the left superior vena cava were diagnosed between 20 and 35 weeks. Only 29% of the cases were detected on ultrasound at 20 weeks. 9 cases (43%) had associated cardiac or extracardiac anomalies and two cases (10%) associated trisomy 21, both with associated cardiac anomalies. In 4 cases (19%) there was an absence of right superior vena cava. In isolated cases, the evolution was favorable. Conclusions The presence of persistence of the left superior vena cava is frequently associated with cardiac and extracardiac abnormalities, so in the case of diagnosis, detailed fetal morphological ultrasound and echocardiogram are justified with subsequent antenatal follow-up. In the case of being isolated, it has an obstetric evolution and a favorable perinatal prognosis, results that were also presented in isolated persistence of the left superior vena cava cases with absence of right superior vena cava.

Bloqueo auriculoventricular completo y asistolia en un niño con ataxia-telangiectasia / Complete heart block and asystole in a child with ataxia-telangiectasia

La ataxia-telangiectasia es una entidad caracterizada por un cuadro de ataxia cerebelosa progresiva, telangiectasias, defectos inmunológicos y una mayor tendencia al desarrollo de tumores malignos. La mutación genética responsable (ataxia-telangiectasia mutada) parece jugar un papel importante en la función celular normal y el remodelado cardiovascular. Se describe la aparición de una arritmia maligna en un paciente de 14 años con un diagnóstico de ataxia-telangiectasia, en remisión completa de linfoma no Hodgkin B de alto grado. Consultó en el Servicio de Urgencias Pediátricas por episodios de presíncope, y se observó, al ingresar, bloqueo auriculoventricular completo que evolucionó hacia asistolia, por lo que requirió la colocación de un marcapasos definitivo. Las dosis acumuladas de fármacos cardiotóxicos recibidos fueron de bajo riesgo. Sin embargo, es posible que esta enfermedad degenerativa crónica afecte con el tiempo al tejido de citoconducción. En la bibliografía revisada, no existen o se desconocen reportes previos de arritmias malignas en pacientes con ataxia-telangiectasia.

Ataxia-telangiectasia is a disorder characterized by cerebellar ataxia, telangiectasia, immunodeficiency, and increased predisposition to cancer susceptibility. Mutations in the ataxia telangiectasia mutated gene seem to play an important role in normal cell function and in cardiovascular remodeling. We report a case of a 14-year-old boy with ataxia-telangiectasia and high-grade B-non-Hodgkin lymphoma who remained in continuous complete remission after chemotherapy and who was admitted into our Emergency Room presenting with episodes of presyncope. At admission he presented a complete atrioventricular block that evolved into asystole and required placement of a pacemaker. Cumulative cardiotoxic drugs received were at low risk. However, it is possible that this chronic degenerative disease may affect the cardiac conduction system over time. In the reviewed literature there are no or unknown reports of ataxia-telangiectasia with malignant cardiac arrhythmias.

[Complete heart block and asystole in a child with ataxia-telangiectasia]. / Bloqueo auriculoventricular completo y asistolia en un niño con ataxia-telangiectasia.

Ataxia-telangiectasia is a disorder characterized by cerebellar ataxia, telangiectasia, immunodeficiency, and increased predisposition to cancer susceptibility. Mutations in the ataxia telangiectasia mutated gene seem to play an important role in normal cell function and in cardiovascular remodeling. We report a case of a 14-year-old boy with ataxia-telangiectasia and high-grade B-non-Hodgkin lymphoma who remained in continuous complete remission after chemotherapy and who was admitted into our Emergency Room presenting with episodes of presyncope. At admission he presented a complete atrioventricular block that evolved into asystole and required placement of a pacemaker. Cumulative cardiotoxic drugs received were at low risk. However, it is possible that this chronic degenerative disease may affect the cardiac conduction system over time. In the reviewed literature there are no or unknown reports of ataxia-telangiectasia with malignant cardiac arrhythmias.

La ataxia-telangiectasia es una entidad caracterizada por un cuadro de ataxia cerebelosa progresiva, telangiectasias, defectos inmunológicos y una mayor tendencia al desarrollo de tumores malignos. La mutación genética responsable (ataxia-telangiectasia mutada) parece jugar un papel importante en la función celular normal y el remodelado cardiovascular. Se describe la aparición de una arritmia maligna en un paciente de 14 años con un diagnóstico de ataxia-telangiectasia, en remisión completa de linfoma no Hodgkin B de alto grado. Consultó en el Servicio de Urgencias Pediátricas por episodios de presíncope, y se observó, al ingresar, bloqueo auriculoventricular completo que evolucionó hacia asistolia, por lo que requirió la colocación de un marcapasos definitivo. Las dosis acumuladas de fármacos cardiotóxicos recibidos fueron de bajo riesgo. Sin embargo, es posible que esta enfermedad degenerativa crónica afecte con el tiempo al tejido de citoconducción. En la bibliografía revisada, no existen o se desconocen reportes previos de arritmias malignas en pacientes con ataxia-telangiectasia.

Nuestra experiencia con la taquicardia reciprocante permanente de la unión aurículo-ventricular / Experience with junctional atrioventricular reciprocating tachycardia

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Pericarditis aguda complicada con derrame pericárdico: Caso clínico pediátrico / Acute pericarditis, complicated by pericardial effusion in a pediatric patient: case report

La pericarditis aguda es la enfermedad más común del pericardio en la práctica clínica. Supone el 0,1% de todos los ingresos hospitalarios y hasta un 5% de aquellos por dolor torácico. En países desarrollados, la causa suele ser benigna, y son más frecuentes las idiopáticas e infecciosas que las secundarias a pericardiotomía quirúrgica y neoplasias. La tuberculosis es la causa más importante en países en vías de desarrollo. Los síntomas más comunes son el dolor torácico característico y la fiebre. Debido a su benignidad y buena evolución con reposo y tratamiento médico, se puede controlar de forma ambulatoria, teniendo presentes aquellos signos de alarma para vigilar o pacientes de riesgo para evitar complicaciones (derrames importantes, taponamiento cardíaco, recurrencias, etc.). Presentamos un caso clínico de un niño de 7 años con antecedentes de comunicación interauricular cerrada quirúrgicamente 9 meses antes, con un cuadro de pericarditis aguda de evolución favorable.

Acute pericarditis is the most common disease of the pericardium encountered in clinical practice. It is diagnosed in 0.1% of all admissions and 5% of emergency room admissions for chest pain. In developed countries, it is usually due to a benign cause. Idiopathic and infectious pericarditis are more common than secondary to surgical pericardiotomy or neoplastic causes, whereas tuberculosis is the dominant cause in developing countries. The most common symptoms of pericarditis are characteristic chest pain and fever. Since pericarditis presents a benign outcome because of self-limiting and good response to conventional anti-inflammatory therapy, it can be safely managed on outpatient basis unless a specific cause is suspected or the patient has high-risk features to avoid complications such as pericardial effusion, cardiac tamponade or recurrent pericarditis. We report a case of pericarditis, diagnosed 9 months after surgical closure of an atrial septal defect, in a 7-year-old boy with favorable evolution.

[Acute pericarditis, complicated by pericardial effusion in a pediatric patient: case report]. / Pericarditis aguda complicada con derrame pericárdico. Caso clínico pediátrico.

Acute pericarditis is the most common disease of the pericardium encountered in clinical practice. It is diagnosed in 0.1% of all admissions and 5% of emergency room admissions for chest pain. In developed countries, it is usually due to a benign cause. Idiopathic and infectious pericarditis are more common than secondary to surgical pericardiotomy or neoplastic causes, whereas tuberculosis is the dominant cause in developing countries. The most common symptoms of pericarditis are characteristic chest pain and fever. Since pericarditis presents a benign outcome because of self-limiting and good response to conventional anti-inflammatory therapy, it can be safely managed on outpatient basis unless a specific cause is suspected or the patient has high-risk features to avoid complications such as pericardial effusion, cardiac tamponade or recurrent pericarditis. We report a case of pericarditis, diagnosed 9 months after surgical closure of an atrial septal defect, in a 7-year-old boy with favorable evolution.

La pericarditis aguda es la enfermedad más común del pericardio en la práctica clínica. Supone el 0,1% de todos los ingresos hospitalarios y hasta un 5% de aquellos por dolor torácico. En países desarrollados, la causa suele ser benigna, y son más frecuentes las idiopáticas e infecciosas que las secundarias a pericardiotomía quirúrgica y neoplasias. La tuberculosis es la causa más importante en países en vías de desarrollo. Los síntomas más comunes son el dolor torácico característico y la fiebre. Debido a su benignidad y buena evolución con reposo y tratamiento médico, se puede controlar de forma ambulatoria, teniendo presentes aquellos signos de alarma para vigilar o pacientes de riesgo para evitar complicaciones (derrames importantes, taponamiento cardíaco, recurrencias, etc.). Presentamos un caso clínico de un niño de 7 años con antecedentes de comunicación interauricular cerrada quirúrgicamente 9 meses antes, con un cuadro de pericarditis aguda de evolución favorable.

Transcatheter closure of a complex atrial septal defect after occluder device embolization.

Percutaneous closure is nowadays considered the treatment of choice of ostium secundum atrial septal defects (ASD). However, transcatheter closure can be highly challenging when we face an ASD with complex morphological features. The combination of different imaging modalities can be very helpful. This case shows the great value of using both intracardiac and real time 3D transesophageal echocardiography for the percutaneous closure of a complex iatrogenic ASD after device embolization.

No evidence of adverse cardiac remodeling in former elite endurance athletes.

BACKGROUND: The impact of high exercise loads on a previously healthy heart remains controversial. We examined the consequences of decades of strenuous endurance exercise at the highest competition level on heart dimensions and volumes as well as on serum biomarkers of cardiac fibrosis/remodeling. METHODS AND RESULTS: We compared echocardiographic measurements and serum biomarkers of cardiac fibrosis/remodeling [troponin I, galectin-3, matrix metallopeptidase-2 and -9, N-terminal pro-brain natriuretic peptide, carboxy-terminal propeptide of type I procollagen, and soluble suppressor of tumorigenicity-2 (sST-2)/interleukin(IL)-1R4] in 53 male athletes [11 former professional ('elite') and 42 amateur-level ('sub-elite') cyclists or runners, aged 40-70years] and 18 aged-matched controls. A subset of 15 subjects (5 controls, 3 sub-elite and 7 elite athletes) also underwent cardiac magnetic resonance imaging (cMRI). Elite and sub-elite athletes had greater echocardiography-determined left ventricular myocardial mass indexed to body surface area than controls (113±22, 115.2±23.1 and 94.8±21g/m(2), respectively, p=0.008 for group effect), with similar results for left (50.5±4.4, 48.2±4.3 and 46.4±5.2mm, p=0.008) and right (38.6±3.8, 41.1±5.5 and 34.7±4.3mm, p<0.001) ventricular end-diastolic diameter, and cMRI-determined left atrial volume indexed to body surface area (62.7±8.1, 56.4±16.0 and 39.0±14.1ml/m(2), p=0.026). Two athletes showed a non-coronary pattern of small, fibrotic left ventricular patches detected by late gadolinium enhancement. No group effect was noted for biomarkers. CONCLUSIONS: Regardless of their competition level at a younger age, veteran endurance athletes showed an overall healthy, non-pathological pattern of cardiac remodeling. Nonetheless, the physiopathology of the ventricular fibrotic patches detected warrants further investigation.

Biomarkers detect involvement of acute myocardial injury in a paediatric haemolytic-uraemic syndrome patient.

Although extrarenal manifestations of haemolytic-uraemic syndrome are not frequent, myocardial dysfunction should be given special consideration because of the importance of proper early haemodynamic management and potential complications. We report the case of a 21-month-old child with haemolytic-uraemic syndrome who developed clinical signs of poor myocardial function with depressed myocardial function noted by bedside echocardiography and significant elevation of biomarkers. Early intervention and supportive treatment for the patient were crucial during the acute phase of cardiac failure, and repeated monitoring of biomarkers and ecocardiography were useful diagnostic tools that provided relevant information throughout the patient's evolution.