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.

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

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.

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

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 echocardiogram 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.

[Ventricular non-compaction associated to a complex congenital heart disease]. / No compactación ventricular asociada con cardiopatía congénita compleja.

OBJECTIVE: To describe the clinical behavior and the echocardiographic features of six patients with ventricular non-compaction associated to complex congenital heart disease. METHODS: A complete clinical history and the echocardiographic study were performed in six patients with complex congenital heart disease. Jenni's criteria for the echocardiograph assessment of ventricular non compaction were used. RESULTS: In all cases prominent trabeculae and deep intertrabecular recesses in the ventricular wall filled by direct blood flow from the ventricular chamber were visualized by color Doppler imaging. The ratio of none compacted to compacted layer was of 2.5±0.19. The associated congenital heart diseases were: Ulh's anomaly, the absence of right atrioventricular connection, single ventricle, cleft of mitral valve, transposition of the great arteries, double inlet in left ventricle. CONCLUSIONS: The clinical manifestations were presented in the childhood and they were associated with congenital heart defect. The echocardiography is a diagnostic method which allows the assessment of the ventricular noncompaction.

[Uhl's anomaly. A case report with anatomoechocardiographic correlation]. / Anomalía de Uhl. Informe de un caso con correlación anátomo-ecocardiográfica.

UNLABELLED: Uhl's anomaly is an uncommon malformation of the right ventricle, which is characterized by the absence of the myocardium in the right ventricular free wall, while the tricuspid and pulmonary valves are morphologically normal. The aim of this work was to present a clinical case of a patient with Uhl's anomaly, to describe the echocardiographic findings and to perform an anatomoechocardiographic correlation with a corresponding specimen. This is a case report of a 33 year old man with suspicion of atrial septal defect, who was in functional class II of the NYHA and presented signs of right ventricular failure. The echocardiogram showed dilation of the right cavities, the free wall of the right ventricle was thin and smooth, and the tricuspid and pulmonary valves were normal, which prompted the diagnosis of Uhl's anomaly. Also, an anatomoechocardiographic correlation was done with an equivalent specimen of the Embryology Department from the Instituto Nacional de Cardiologia Ignacio Chavez's collection. CONCLUSIONS: Uhl's anomaly is an extremely rare entity. The clinical findings and echocardiography are the main tools for its diagnosis. The anatomoechocardiographic correlation was precise and allowed a better understanding of this anomaly."

[Congenital mitral valve anomalies in adults. Clinical and echocardiographic study]. / Anomalías congénitas de la válvula mitral en adultos. Estudio clínico- cocardiográfico.

INTRODUCTION: Congenital anomalies of the mitral valve (CAMV) comprise a wide range of leaflet anomalies and of the subvalvular apparatus. Its presentation in adults is not frequent. OBJECTIVE: In this work, we assessed the clinical and echocardiographic aspects as well as the treatment of five adult patients with CAMV. METHODS: A complete clinical history was made for each patient. All patients were subjected to an electrocardiogram, Chest X-rays, and an echocardiogram. RESULTS: Two patients were in functional class (FC) I, one in FC II, and two in FC III of the New York Heart Association. Diagnoses were: 1) prolapsed mitral valve with severe mitral failure, 2) parachute mitral valve associated with a subvalvular aortic fibrous ring and patent ductus arteriosus, 3) tri-leaflet mitral valve with subaortic obstruction, 4) double mitral orifice associated with bicuspid aorta and aortic coarctation, and 5) tunnel-forming mitral valve associated with ostium primum interatrial communication and pulmonary arterial hypertension and pulmonary artery hypertension. One patient was subjected to mitral valve change, one to dilation of the aortic coarctation, and another is under sitaxentan treatment, with improvement in the FC. The two remaining patients are awaiting surgery. CONCLUSIONS: Review of these cases with CAMV reveals the relevance of the echocardiogram in the evaluation of the mitral valve and of the subvalvular apparatus, because it allows for the identification of different types of malformations and their hemodynamic repercussion, to be able to propose the precise and timely treatment for these patients.

[Ebstein's anomaly and interventricular communication, a rare association]. / Anomalía de Ebstein y comunicación interventricular. Una asociación poco frecuente.

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.

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.