Complicaciones cardiopulmonares en anemia de células falciformes / Cardiopulmonary complications in sickle cell anemia

La anemia de células falciformes, considerada la enfermedad genética más prevalente entre los afroamericanos, es una entidad con patrón de herencia autosómico recesivo, que se caracteriza por la producción de hemoglobina S. Esta proteína anormal se polimeriza y facilita la formación de agregados fibrilares que alteran la morfología eritrocitaria. La elevada rigidez de los hematíes impide su tránsito adecuado a través de la microcirculación, lo que conlleva hemólisis y aumento de la viscosidad sanguínea que favorece la trombogénesis y oclusión vascular, generando isquemia tisular y microinfartos. Esta enfermedad presenta una alta tasa de morbimortalidad, especialmente en los 3 primeros años de vida si no se realiza un diagnóstico rápido y un tratamiento adecuado. Complicaciones cardiovasculares como la insuficiencia cardíaca y la hipertensión pulmonar se pueden desarrollar de forma independiente, y cada una contribuye a una mayor mortalidad, siendo la combinación de ambos factores de riesgo un importante agravante del pronóstico y un indicador determinante de la mortalidad.

Sickle cell anemia, considered the most prevalent genetic disease among African Americans, is a disease with autosomal recessive inheritance pattern, characterized by the production of hemoglobin S. This abnormal protein polymerizes and facilitates the formation of fibrillar aggregates that alters the erythrocyte morphology. The stiffness of the red blood cells hinders the adequate transit across microcirculation, leading to hemolysis and increased blood viscosity, which ease thrombogenesis and vascular occlusion, resulting in tissue ischemia and microinfarcts. This disease has a high rate of morbidity and mortality, especially in the first three years of life, when a rapid diagnosis and appropriate treatment are essential. Cardiovascular complications such as heart failure and pulmonary hypertension may develop independently, and each one contributes to increased mortality, being the combination of both risk factors, an important aggravating factor for prognosis and a determinant indicator of mortality.

Forma de presentación y evolución del ventrículo derecho bicameral / Presentation form and evolution of double-chambered right ventricle

Introducción: El ventrículo derecho bicameral es una enfermedad poco frecuente, que constituye el 0,5% de las cardiopatías congénitas. Objetivo: Describir el comportamiento clínico y las características ecocardiográficas de una serie de 11 pacientes. Métodos: Se estudiaron 11 pacientes con diagnóstico de ventrículo derecho bicameral. Se les realizó historia clínica completa, radiografía de tórax, electrocardiograma y ecocardiograma transtorácico. Resultados: La mediana de la edad de los pacientes fue de 10 años y el 55% perteneció al sexo masculino; 4 no presentaron síntomas y el diagnóstico fue por ecocardiografía. El ecocardiograma demostró la presencia de un ventrículo derecho dividido en 2 porciones por una banda fibromuscular. Las lesiones asociadas más frecuentes fueron: comunicación interventricular, foramen oval permeable, estenosis subvalvular aórtica y tetralogía de Fallot; 7 pacientes fueron a tratamiento quirúrgico y actualmente 6 de ellos se encuentran en clase funcional NYHA I. Conclusiones: Este trabajo reviste especial importancia, porque es la serie de casos más grande en México y los resultados obtenidos son comparables con los estudios reportados en la literatura médica. El síntoma clínico predominante fue el deterioro de la clase funcional NYHA. Las manifestaciones clínicas se presentan desde la lactancia o más tardíamente hasta la vida adulta, por lo que consideramos que el grado de obstrucción puede tener un comportamiento progresivo. El ecocardiograma es el método diagnóstico de elección en estos casos. El 91% de los pacientes que recibieron tratamiento quirúrgico con ventrículo derecho bicameral tienen resultados hemodinámicos y funcionales excelentes en el seguimiento a mediano plazo.

Introduction: The double-chambered right ventricle (DCRV) is an uncommon congenital heart disease; it represents the 0,5% of these congenital cardiopathies. Objective: To describe the clinical and echocardiographic characteristics of a series of 11 patients. Methods: Eleven patients with DCRV were studied. A complete medical history, chest radiograph, electrocardiogram, and transthoracic echocardiography were performed. Results: The median age of studied patients was 10 years. The 36.45% of cases were asymptomatic and the diagnosis was made by echocardiography. Other cases had weakness during food in the lactancy stage and worsening of NYHA functional class in older children. The echocar-diogram showed double-chambered right by a muscular band in all studied patients. The most frequent associated anomalies were: ventricular septal defect, patent foramen ovale, subvalvular aortic stenosis, and Fallot's Tetralogy. Seven patients went to surgical treatment and now 6 of them are in NYHA functional class I. Conclusions: This paper has a special importance, because is the biggest series of patients with double-chambered right ventricle in Mexico and the results are comparable to the studies reported in the literature. The worsening of the NYHA functional class was the predominate symptom. The clinical manifestations can be presented from the lactancy to adulthood and the degree of obstruction could have a progressive character. The echocardiography is the method of choice in the diagnosis of these patients. The 91% of patients with DCRV who went to surgical treatment had excellent hemodynamic and functional results in the mid-follow-up.

Anomalía de Ebstein y comunicación interventricular: una asociación poco frecuente / Ebstein's anomaly and interventricular communication, a rare association

The Ebstein's anomaly is a malformation of the tricuspid valve, in which the septal and posterior leaflets are attached to the wall of the right ventricle. The usual association is with an atrial septal defect, followed by pulmonary stenosis and pulmonary atresia; the ventricular septal defect is unusual. We present three cases with diagnosis of Ebstein's anomaly and ventricular septal defect. The initial presentation of the first two was an acyanotic heart defect with congestive heart failure and increased pulmonary flow, whereas the third patient was cyanotic and functionally impaired. The three patients underwent surgery. In the first one, the ventricular septal defect was corrected with a valvular patch, a pleat of the atrialized portion, and a tricuspid valvuloplasty. The outcome was aberrant; the patient had multiple arrhythmia episodes and died five days after surgery. In the second case, only the ventricular septal defect was corrected, the patient remains under treatment and is in functional class II. In the third patient, a one and a half ventricular surgery with a tricuspid prosthesis was performed; the outcome was favorable, the patient is in functional class II. The association of Ebstein's anomaly and ventricular septal defect is unusual. The increase of the pulmonary flow is due to the size and location of the ventricular defect. A good clinical judgment is needed to make a correct diagnosis and timely treatment.