Early severe coronary heart disease and ischemic heart failure in homozygous familial hypercholesterolemia: A case report.

RATIONALE: Familial hypercholesterolemia (FH) is a common inherited cause of coronary heart disease (CHD) and premature death in an early age. Nevertheless, an ischemic heart failure (IHF) associated with FH seems to be rare, and an early diagnosis and therapy could influence the prognosis. PATIENT CONCERNS: In this 13-year-old girl, multiple xanthomas began to develop from the first day of birth. Until June, 2017, she was admitted to our center due to edema, oliguria, and dyspnea during exertion, which was attributed to a recent respiratory infection. DIAGNOSIS: Homozygous FH (HoFH), CHD, and IHF. INTERVENTIONS: The patient has been treated with statin, ezetimibe, aspirin, and traditional heart failure (HF) medications. In addition, the beta-blocker was simultaneously administered. OUTCOMES: Genotypes of this proband indicated homozygous mutations of low-density lipoprotein receptor (LDLR) and some co-segregated mutations, such as von Willebrand factor (VWF) and fibroblast growth factor receptors. At 6-month follow-up, we found a decreased level of plasma lipid profile, in addition to a significant improvement in 6-minute walk distance and functional class. Echocardiography indicated nonsignificant improvements in the structure and function of the heart. LESSONS: This case report indicates that HoFH can lead to dramatically progressive endothelial damages and ventricular remodeling, severe atherosclerosis, even IHF. Genetic outcomes indicate IHF with HoFH could possibly result from LDLR mutations and some co-segregated mutations influencing endothelial function and cardiovascular remodeling. In a short-term follow-up, a combination of statins, ezetimibe, aspirin, and traditional HF agents is safe and effective for IHF with HoFH, and there is a need for further identification of drugs to ameliorate endothelial function and cardiovascular remodeling which may play an important role in long-term treatment.

Tumores retrorrectales: un reto diagnósticoterapéutico / Retrorectal tumors - a diagnostic-therapeutic challenge

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Características y evolución de la transposición de grandes vasos en el periodo neonatal / Characteristics and outcomes of transposition of great arteries in the neonatal period

Introducción y objetivos. La transposición de grandes vasos es una cardiopatía congénita frecuente, con alta supervivencia y escaso número de secuelas, especialmente si se interviene precozmente, en el periodo neonatal. Nuestro objetivo es describir las características y la evolución de los pacientes afectados y determinar posibles factores pronósticos de morbimortalidad precoz y a largo plazo. Métodos. Estudio retrospectivo mediante revisión de historias clínicas y base de datos de los pacientes con transposición de grandes vasos ingresados entre los años 2000 y 2011. Resultados. Ingresaron 136 pacientes afectados de transposición de grandes vasos, de los que 119 se sometieron a cirugía correctora durante el periodo neonatal. Los pacientes se dividieron en tres grupos: grupo I , 81 transposición de grandes vasos simple; grupo II , 24 con comunicación interventricular concomitante, y grupo III , 31 transposiciones «complejas». La supervivencia postoperatoria fue de 96,7% (115 de 119 pacientes), aunque ningún paciente del grupo I falleció. La duración de la cirugía, la intubación y el uso posquirúrgico de inotrópicos y el tiempo de ingreso fueron mayores para los pacientes de los grupos II y III . Tras una media de 6 años de seguimiento, el 90,4% (123 de 136) de los pacientes estaban vivos. La lesión residual más frecuente en el seguimiento fue la estenosis supravalvular pulmonar en 33 de 113 pacientes seguidos. Conclusiones. En nuestro estudio, la supervivencia en el conjunto de pacientes con transposición de grandes vasos, y especialmente los sometidos a switch arterial, es alta. Los pacientes con formas más complejas tienen más complicaciones hospitalarias, pero no tras el seguimiento (AU)

Introduction and objectives. Transposition of the great arteries is a prevalent congenital heart defect with a high survival rate and a good long-term outcome, especially if managed with early surgical intervention during the neonatal period. In this study, our main objective was to describe patient characteristics and outcomes and to identify possible predictors of early and long-term morbidity and mortality. Methods. Retrospective analysis through review of clinical and surgical charts of patients with transposition of the great arteries admitted to the service of neonatology during 2000-2011. Results. The study included 136 patients; 119 of them had undergone corrective surgery during the neonatal period. Patients were divided into 3 groups: group I, 81 cases of isolated transposition; group II, 24 cases with ventricular septal defect; and group III, 31 with "complex" transposition of the great arteries. The overall postoperative survival was 96.7% (115 of 119 patients); no patients from group I died after surgery. Duration of surgery, intubation, inotropic treatment, and length of stay were higher in patients in groups II and III. The overall survival rate after an average of 6 years of follow-up was 90.4% 123 of 136 patients, with no deaths after discharge in group I. The most frequent residual defect during cardiac follow-up was supravalvular pulmonary stenosis, in 33 of 113 patients that had follow-up data. Conclusions. In our study, the survival rate was high in patients with transposition of great arteries and especially in those undergoing arterial switch. The number of subsequent residual heart defects was low (AU)

Aspectos epidemiológicos y diagnósticos de la fibrilación auricular / Epidemiological and diagnostic features of atrial fibrillation

La fibrilación auricular (FA) es la arritmia cardíaca más frecuente y la que produce mayor número de ingresos hospitalarios. Se caracteriza por suplantar el ritmo normal del corazón, que pasa a ser irregular y descoordinado. La FA es un problema creciente de salud pública debido al progresivo envejecimiento de la población y a la mayor supervivencia de las enfermedades cardiovasculares. La prevalencia e incidencia aumentan, en ambos sexos, con la edad, llegándose a duplicar, aproximadamente, cada 10 años. En la población general afecta al 1%, alcanzando hasta el 16% en personas de 85 o más años de edad. Los principales factores de riesgo relacionados con el desarrollo de la FA son, además de la edad, hipertensión arterial, diabetes y cardiopatía isquémica. Es una enfermedad con una importante carga socioeconómica y sanitaria derivada de su alta morbimortalidad, aumentando el riesgo de muerte, insuficiencia cardíaca y fenómenos embólicos, incluido el accidente cerebrovascular. La FA es una enfermedad que altera notablemente la calidad de vida de los pacientes debido a su incapacidad para realizar las actividades diarias normales, siendo sus principales síntomas palpitaciones, dolor de pecho, disnea, fatiga o sensación de mareos. En la evaluación inicial de todo paciente con FA se debe clasificar adecuadamente la arritmia, valorar los síntomas, estimar el riesgo de ictus y realizar algunas pruebas complementarias al alcance del médico de atención primaria (AU)

Atrial fibrillation (AF) is the most common abnormal heart rhythm and is the arrhythmia that provokes the greatest number of hospital admissions. In AF the normal heart rhythm changes to one that is irregular and uncoordinated. AF is an increasing problem in public health due to progressive population aging and longer survival in persons with cardiovascular diseases. In both men and women, the incidence and prevalence of AF increase with age and approximately doubles every 10 years. This disorder affects 1% of the general population, rising to 16% among persons aged 85 years or more. In addition to age, the main risk factors for the development of AF are hypertension, diabetes, and ischemic heart disease. AF provokes a high socioeconomic and healthcare burden due to its high morbidity, which increases the risk of death, heart failure and embolic phenomena, including stroke. This disorder has a strong impact on patients’ quality of life due to their inability to perform normal daily activities. The main symptoms are palpitations, chest pain, shortness of breath, fatigue and dizziness. The initial evaluation of AF should always include classification of the arrhythmia, symptom evaluation, estimation of stroke risk and the performance of some complementary tests available in primary care (AU)

Anomalous aortic origin of a coronary artery: medium-term results after surgical repair in 50 patients.

BACKGROUND: Anomalous aortic origin of a coronary artery (AAOCA) is a rare congenital heart defect that has been associated with myocardial ischemia and sudden death. Controversies exist regarding the diagnosis, treatment, and long-term recommendations for patients with AAOCA. The purpose of this study is to evaluate the medium-term results of surgical repair for AAOCA. METHODS: From January 1999 through August 2010, 50 patients underwent surgical repair of AAOCA. The median age at surgery was 14 years (range, 5 days to 47 years). Thirty-one patients had the right coronary originate from the left sinus of Valsalva, 17 had the left coronary originate from the right sinus, and 2 had an eccentric single coronary ostium. Twenty six of the 50 patients had symptoms of myocardial ischemia preoperatively, and 14 patients had associated congenital heart defects. Repair was accomplished by unroofing in 35, reimplantation in 6, and pulmonary artery translocation in 9. RESULTS: There was no operative mortality. The median time of follow-up has been 5.7 years. Two patients were lost to follow-up, and 1 patient required heart transplantation 1 year after AAOCA repair. In the remaining 47 postoperative patients, all have remained free of cardiac symptoms and no one has experienced a sudden death event. CONCLUSIONS: The surgical treatment of AAOCA is safe and appears to be highly effective in eliminating ischemic symptoms. These medium-term results are encouraging and suggest that many patients may be able to resume normal activities.

Cierre percutáneo del ductus con diferentes dispositivos en adultos / Percutaneous closure of patent ductus arteriosus in adults using different devices

El cierre quirúrgico del conducto arterioso en adultos implica riesgos debido a sus cambios anatómicos e histológicos. Desde octubre de 1992 hasta agosto de 2008, fueron referidos a nuestro servicio 23 pacientes con conducto arterioso persistente aislado; edad, 16-75 años (mediana, 25,5); peso, 52-80 kg (mediana, 57); diámetro pulmonar, 1,8-5,8 mm (media, 3,5); presión media en la arteria pulmonar, 9-72 mmHg (media, 15). Las tasas de oclusión fueron del 85,7% con los dispositivos Rashkind-PDA y del 100% con Amplatzer Duct-Occluder y Nit-Occlud coil. Tiempo medio de internación y seguimiento: 24 h y 2 años respectivamente. La única complicación inmediata fue un hematoma inguinal; no hubo complicaciones alejadas. En adultos, el cierre del conducto arterioso con diferentes dispositivos, especialmente los de última generación, resultó seguro y eficaz, independientemente de su morfología y estado histológico (AU)

Surgical closure of patent ductus arteriosus in adults involves a number of risks because there are associated anatomic and histologic alterations. Between October 1992 and August 2008, 23 patients were referred to our department with isolated patent ductus arteriosus. Their age ranged from 16-75 years (median 25.5 years) and their weight from 52-80 kg (median 57 kg). The pulmonary diameter ranged from 1.8-5.8 mm (mean 3.5 mm), and pulmonary artery pressure, from 9-72 mmHg (mean 15 mmHg). The rate of ductal occlusion achieved with the Rashkind patent ductus arteriosus occluder was 85.7%, and it was 100% with the Amplatzer duct occluder and the Nit-Occlud coil. The average hospitalization time and follow-up duration were 24 hours and 2 years, respectively. The only immediate complication was an inguinal hematoma, and there were no late complications. In adults, closure of patent ductus arteriosus using a number of different devices, especially the latest generation devices, was safe and effective, regardless of morphologic and histologic characteristics (AU)

Sling de la arteria pulmonar asintomático: diagnóstico no invasivo / Asymptomatic pulmonary artery sling: noninvasive diagnosis

El origen anómalo de la rama pulmonar izquierda, conocido como sling, de la arteria pulmonar es una rara forma de anillo vascular, una cardiopatía congénita en la cual la arteria pulmonar izquierda se origina de la arteria pulmonar derecha y pasa por detrás de la tráquea, la rodea y cruza hacia la izquierda, pasando entre la tráquea y el esófago para alcanzar el hilio pulmonar izquierdo.La evolución clínica depende de las lesiones traqueales y anomalías cardiacas asociadas. La mayoría de los pacientes (90%) tiene síntomas respiratorios en el primer año de vida, debido a la estenosis traqueal (estridor y sibilancias crónicas) y con una alta tasa de mortalidad si no hay una intervención quirúrgica. Otras cardiopatías congénitas mayores están presentes hasta en un 50% de pacientes con este raro anillo vascular. Presentamos un caso de una niña de 3 años de edad asintomática, sin ninguna cardiopatía congénita asociada y los hallazgos ecocardiográficos y tomográficos que permiten hacer el diagnóstico no invasivo (AU)

The anomalous origin of the left pulmonary branch known as pulmonary artery sling (PAS) is a rare form of vascular ring, a congenital heart disease in which the left pulmonary artery originates from the right pulmonary artery and runs posterior to the trachea, encircling it, and goes leftwards between the trachea and oesophagus to reach the left pulmonary hilum.AbstractThe clinical outcome depends on the associated tracheal lesions and cardiac anomalies. The majority of patients (90%) have respiratory symptoms in the first year of life, due to tracheal stenosis (chronic stridor and wheezing), and with a high mortality rate if there is no surgical intervention. Other major congenital heart diseases are present in up to 50% of patients with this rare vascular ring. We present a case of this rare disease in an asymptomatic 3-year-old girl, without any associated congenital heart disease and the findings in the echocardiography and tomography that made the non-invasive diagnosis possible(AU)

Ectopia cordis / No disponible

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Prevalencia de las cardiopatías congénitas en un hospital de la ciudad de Manizales, Colombia, años 2000 y 2008 / Prevalence of congenital heart disease in a hospital from Manizales, Colombia between 2000 and 2008

Objetivo: Identificar la prevalencia, la edad al momento del diagnóstico, la prevalencia según el género, determinar los métodos diagnósticos más utilizados, el tratamiento recibido, y la evolución de los pacientes hospitalizados por cardiopatías congénitas en el Hospital Infantil Universitario “Rafael Henao Toro” de la ciudad de Manizales (Colombia).Materiales y métodos: Se realizó un estudio de corte transversal en el cual se analizaron, desde agosto de 2008 hasta febrero de 2009, 105 historias clínicas de pacientes diagnosticados con cardiopatías congénitas entre los años 2000 y 2008.Resultados: De 105 pacientes, 51.4 porciento eran de género femenino; 67.6% provenían de área urbana; la mayor prevalencia se dio en comunicación interauricular 48.6%; en el 99.0% de los casos se usó la ecocardiografia bidimensional como método diagnóstico paraclínico; el 28.6 por ciento usó la furosemida como tratamiento médico. La población presentó una sobrevida del 87.6 por ciento.Conclusiones: Este estudio mostró que las cardiopatías congénitas de mayor prevalecía fueron comunicación interauricular 48.6 por ciento y comunicación intraventricular (46.7 por ciento), y en el género femenino 51.4 por ciento...

Diabetes neonatal transitoria y cardiopatía congénita tipo seudo-Fallot: a propósito de un caso / Transient neonatal diabetes and congenital cardiopathy pseudo-Fallot type: report of a case

Exponemos el caso de un recién nacido de 36 semanas de gestación y un peso al nacimiento de 1.680 g, que presenta a las10 h de vida hiperglucemias de 500 mg, por lo que precisa tratamiento con insulina regular en perfusión continua. En su evolución se observa una cardiopatía, seudo-Fallot, consistente en una comunicación interauricular tipo ostium secundum, una comunicación interventricular perimembranosa amplia y una estenosis pulmonar severa, que tolera bien y se trata confurosemida y aporte oral de potasio. A los 30 días de vida se administra insulina en forma de bolos cada 6 h y en la actualidad recibe insulina NPH cada 12 h, con buenos controles glucémicos .Los valores plasmáticos de insulina y péptido C son bajos y la hemoglobina glucosilada a los 2 meses de vida es normal(AU)

We present a newborn male of 36 weeks of gestation and a weight at birth of 1680 g. with an onset of hyperglycemia of500 mg at ten hours of life, requiring treatment with regular insulin in continued perfusion. In his development a Pseudo-Fallot cardiopathy is observed, consisting of ostium secundum type ASD (atrial septal defect), wide perimembranous ASD, and severe pulmonary stenosis, that he tolerates well and that is being treated with furosemide and oral contribution of K. At30 days of age, he receives bolus insulin every 6 hours and at present, NPH insulin every 12 hours, with good glycemics controls. The plasmatic values of insulin and C-peptide are low and the glycosylated hemoglobin at two months of life is normal(AU)

Síndrome de Moyamoya asociado al síndrome de Down. Hallazgos clínicos y radiológicos / Moyamoya síndrome associated with Down syndrome: clinical and radiological features

La asociación entre el síndrome Moyamoya (SMM) y el síndrome de Down ha sido descrita en algunos pacientes. El accidente cerebrovascular (ACV) isquémico y el déficit motor unilateral es la forma de presentación más frecuente en la edad pediátrica. En este trabajo se reporeta el caso de una niña de 8 años de edad con SD y SMM que se presenta con crisis parciales y hemiparesia izquierda. El objetivo de este estudio es describir los hallazgos clínicos y radiológicos de la paciente, así como revisar y actualizar el tratamiento médico-quirúrgico y las posibles hipótesis que explican la asociación entre estas dos entidades (AU)

Moyamoya síndrome has been rarely associated with Down síndrome. In pediatric patients, the usual presentation is the ischemic stroke. We report a 8 year old girl with Down syndrome and Moyamoya syndrome, who presented with focal seizure and acute left onset hemiparesis. The aim of this study is to describe the clinical and radiological features of the patient, the mamagment and the possible causes that could explain these two syndrome´s associations have been reviewed (AU)

Miocardiopatias / Miocardiopathy

O grupo-tarefa constituído pela Organização Mundial da Saúde/Federação e Sociedade Internacional de Cardiologia (OMS/SIFC) define miocardiopatia (ou cardiomiopatia), como doença miocárdica associada à disfunção cadíaca. Esta definição, excessivamente genérica, encerra o inconveniente de ampliar em demasia o campo de estudo, de sorte que, no presente capítulo, o termo será empregado em sentido mais restrito, englobando apenas as afecções miocárdicas associadas à disfunção cardíaca não decorrentes de aterosclerose coronária significativa, disfunção valvar ou obstáculo fixo à ejeção das câmaras ventriculares, shunts dentro ou fora do coração e de hipertensão arterial sistêmica ou pulmonar passada ou presente...

[Cardiac rehabilitation in patients with a congenital heart disease, an implantable cardioverter defibrillator or chronic heart failure]. / Hartrevalidatie bijpatiënten met een aangeboren hartafwijking, een implanteerbare defibrillator of chronisch hartfalen.

Cardiac rehabilitation is no longer just used to treat patients after the manifestation of a coronary artery disease such as a myocardial infarct, after a PTCA or after a coronary bypass operation. Patients with a congenital heart disease, patients who have received an implantable cardioverter defibrillator (ICD) and patients with stable chronic heart failure are also suitable candidates for a multidisciplinary cardiac rehabilitation programme. The new Dutch guidelines for cardiac rehabilitation, published in 2004, can be helpful in identifying potential candidates for a programme. Physical training is often a component of the treatment, but psycho-social counselling and education targeted at reducing anxiety and uncertainty, accepting the heart disease and learning to cope with it, can be just as important as those aspects targeted at improving the physical condition. Cardiac rehabilitation that includes physical training is safe for patients with congenital heart disease, for patients who have undergone an ICD implantation and for patients with stable chronic heart failure, as long as the pretraining exercise test is given a guiding role in selecting the appropriate physical work load. Patients with stable chronic heart failure should continue their physical training in order to maintain its beneficial physical and psychological effects.

Phospholipid composition of myocardium in children with normoxemic and hypoxemic congenital heart diseases.

Samples of myocardial tissue were obtained during cardiac surgery from children operated for different types of normoxemic and hypoxemic congenital heart diseases. The phospholipid composition was analyzed by thin layer chromatography. The concentration of total phospholipids (PL), phosphatidylcholine and phosphatidylethanolamine (PE) was found lower in atrial tissue of both normoxemic and hypoxemic groups in comparison with the ventricles. When comparing the difference between hypoxemic and normoxemic defects, hypoxemia was found to increase the concentration of total PL, PE and phosphatidylserine in ventricles and total PL and PE in the atria. The increased level of particular phospholipid species may represent adaptive mechanisms to hypoxemia in children with congenital heart diseases.

MRI of subendocardial perfusion deficits in isolated left ventricular noncompaction.

Ventricular noncompaction is a rare unclassified cardiomyopathy due to intrauterine arrest of compaction of the loose interwoven meshwork. It is characterized by markedly irregular endocardial surfaces with prominent trabeculations and intertrabecular recesses. Patients are asymptomatic or present with depressed ventricular function, ventricular arrhythmia, and systemic embolism. Areas of restricted myocardial perfusion have been previously documented by scintigraphy and positron emission tomography. This report documents a case of isolated left ventricular noncompaction with subendocardial perfusion deficits on MRI.