Síndrome de heterotaxia: hallazgos tomográficos / Heterotaxy syndrome: tomographic findings

Resumen El objetivo de este trabajo es caracterizar los aspectos tomográficos relevantes en el síndrome de heterotaxia, mediante cuatro pacientes que ejemplifican los hallazgos más frecuentes en esta patología. Situs solitus es la disposición habitual de los órganos y vasos sanguíneos y situs inversus se refiere a la imagen en espejo del situs solitus. Cuando la disposición de los órganos es indeterminada e impredecible y no se corresponde con el situs solitus ni el situs inversus, estamos frente al situs ambiguus o síndrome de heterotaxia, espectro de anomalías poco frecuente en las relaciones de los órganos toracoabdominales. Puede acompañarse de isomerismo derecho o isomerismo izquierdo. Clasificarlo en dos subgrupos es habitualmente difícil, ya que ninguno de estos tiene hallazgos únicos y patognomónicos, sino que existe amplia superposición. Ambos son de mal pronóstico, en los casos de isomerismo izquierdo un 5-10% llegan a la edad adulta, siendo de peor pronóstico los casos de isomerismo derecho, debido a que presentan inmunodepresión secundaria a la asplenia y cardiopatías congénitas más severas. Se debe analizar cada caso de forma individualizada y detallada para establecer el diagnóstico, determinar la asociación lesional y establecer aquellos pacientes que presenten mayor riesgo de complicaciones.

Abstract The objective of this brief communication is to characterize the relevant tomographic aspects in the heterotaxy syndrome, by means of 4 patients that exemplify the most frequent findings in this pathology. Situs solitus is the usual arrangement of organs and blood vessels and situs inversus refers to the mirror image of situs solitus. When the arrangement of the organs is indeterminate and unpredictable and does not correspond to situs solitus or the situs inversus, we are facing the situs ambiguus or heterotaxy syndrome, abnormal spectrum of anomalies in the relations of the thoracoabdominal organs. It may be accompanied by right isomerism or left isomerism. Attempts to classify it into two subgroups are usually difficult since none of these has unique and pathognomonic findings, but rather there is broad overlap. Both are of poor prognosis, in the cases of left isomerism 5-10% reach adulthood, with a worse prognosis being the cases of right isomerism due to the fact that they have immunodepression secondary to asplenia and more severe congenital cardiopathies. Each case should be analyzed in an individualized and detailed manner to establish the diagnosis, determine the lesional association and establish those patients that present a higher risk of complications.

Isomerismo derecho (síndrome de ivemark): presentación de un caso / Right isomerism (ivemark syndrome): presentation of a case

El Síndrome de Ivemark se clasifica como un trastorno de Heterotaxia o un trastorno de lateralidad de baja incidencia, que debuta con manifestaciones clínicas caracterizados por latidos cardiacos a la derecha y asplenia entre otras malformaciones, se puede asociar a un patrón de herencia autosómico recesivo que es el más frecuente. Se destaca que entre las malformaciones más frecuentes del aparato digestivo se encuentra la mal rotación intestinal la cual fue descartada y los signos de distensión abdominal y mala tolerancia alimentaria se debió a la descompensación gradual del paciente. El diagnóstico prenatal mediante la ecocardiografía es pieza clave en el manejo posterior del paciente, debido que permite programar su nacimiento en centros de III nivel, por su alta complejidad y requerimiento de cirugía cardiotorácica, el manejo terapéutico de asplenia determina el pronóstico del paciente.

The Ivemark Syndrome is classified as a Heterotaxia disorder or a low incidence laterality disorder, which debuts with the clinical characteristics for right heartbeats and asplenia among other malformations, it can be associated with an autosomal recessive inheritance pattern that is the most frequent It is emphasized that the most frequent, malformations of the digestive system are in the phase of abdominal rotation that the discarded and the signs of abdominal distension and food intolerance were due to the gradual decompensation of the patient. Prenatal diagnosis through echocardiography is the key to the management of the birth of the patient, which allows to schedule its birth in the centers of III level, for its high complexity and requirement of cardiothoracic surgery, the therapeutic management of Asplenia determines the prognosis of the patient.

Clinical Features in Patients With Asplenia Syndrome Combining Complex Congenital Heart Disease / 中国循环杂志

To statistically study the patients with asplenia syndrome combining complex congenital heart disease (CHD) for their common cardiac malformation, frequency of occurrence and to explore the anatomical features with possible mechanism. Methods: A total of 47 patients with asplenia syndrome were analyzed including 27 male and 20 female at the age from 23 days to 32 years. The common cardiac malformation and frequency of occurrence were statistically studied. Results: ① The cardiac malformations were mainly with the following types: abnormal position of heart in 16 (34.0%) cases, a wide range of septal tissue defect in 47 (100%) cases, abnormal atrio-ventricular valve in 42 (89.4%) cases, abnormal aortic origin in 47 (100%) cases, abnormal position of 2 grate arteries in 46 (97.8%) cases, right ventricular outflow obstruction/pulmonary arterydysplasiain 45 (95.7%) cases, anomalous systemic venous drainage in 44 (91.5%) cases and anomalous pulmonary venous drainage in 28 (59.6%) cases. ② The cardiac malformations were usually involved in several positions as 1 (2.1%) patient with 4 kinds of abnormal structures, 5 (10.6%) patients with 5 kinds of abnormal structures, 13 (27.7%) patients with 6 kinds of abnormal structures, 23 (48.9%) patients with 7 kinds of abnormal structures and 7 (14.9%) patients with 8 kinds of abnormal structures. Conclusion: Asplenia syndrome combining cardiac malformation has been complex while with specificity. Laterality dysfunction might be the primarycause for series malformations.

Ivemark syndrome-a rare entity with specific anatomical features / Síndrome de Ivermark. Informe de un caso

Ivemark syndrome (IS) is a rare embryological disorder which results from failure of development of the left-right asymmetry of organs. It is often associated with cardiac and other organ abnormalities, which are the usual causes of death in early neonatal life. We report a 3 months old girl with IS with dextrocardia, transposition of the great vessels, atrio-ventricular connection, total anomalous pulmonary venous drainage, a right atrial and right pulmonary isomerism, a midline liver, a midline gallbladder, asplenia, intestinal malrotation and vena cava anomalies. To our knowledge, complete right heterotaxia syndrome has been rarely described in literature. Lateralization defects such as situs inversus, asplenia or polysplenia due to defective left-right axis development are considered as defects of the primary developmental field. Therefore, additional malformations in IS can be synchronic defects in the primary developmental field rather than causally independent malformations.

El síndrome de Ivermark es un desorden embriológico raro resultante de una falla en el desarrollo de la asimetría izquierda y derecha de los órganos. Usualmente se asocia con anomalías cardíacas y de otros órganos, que son la causa usual de muerte en la vida neonatal. Presentamos una niña de 3 meses con dextrocardia, trasposición de los grandes vasos, comunicación aurículo-ventricular, drenaje anómalo total de la vena pulmonar, isomerismo de la aurícula y pulmón derecho, hígado y vesícula en la línea media, asplenia, malrotación intestinal y anomalías de la vena cava. Una heterotaxia derecha completa ha sido raramente descrita en la literatura. Los defectos de lateralización como situs inverso, asplenia o poli esplenia causados por defectos en el desarrollo izquierda derecha son considerados como defectos del campo de desarrollo primario. Por lo tanto, las manifestaciones adicionales del síndrome de Ivemark pueden ser defectos sincrónicos del campo de desarrollo primario más que malformaciones causalmente independientes.

A Case of Helicobacter cinaedi Bacteremia in an Asplenic Patient

Helicobacter cinaedi is an enterohepatic species. It can cause bacteremia, gastroenteritis, and cellulitis, particularly in immunocompromised individuals, such as those with acquired immunodeficiency syndrome, malignancy, or alcoholism. There are no previous reports of H. cinaedi infection in Korea. A 71-yr-old man was admitted to the emergency room because of dyspnea on November 9, 2011. He had undergone splenectomy 3 yr ago because of immune hemolytic anemia. Chest plain radiography revealed bilateral pleural effusion. He developed fever on hospital day (HD) 21. Three sets of blood cultures were taken, and gram-negative spiral bacilli were detected in all aerobic vials. The isolate grew in tiny colonies on chocolate agar after 3-day incubation under microaerophilic conditions. This organism tested positive for catalase and oxidase, and negative for urease. The 16S rRNA gene sequence of this isolate exhibited 99.8% homology with the published sequence of H. cinaedi CCUG 18818T (GenBank accession no. ABQT01000054) and 98.5% homology with the sequence of Helicobacter bilis Hb1T (GenBank accession no. U18766). The patient was empirically treated with piperacillin/tazobactam and levofloxacin, and discharged with improvement on HD 31. To our knowledge, this is the first report of H. cinaedi bacteremia in an asplenic patient. Asplenia appears to be a risk factor for H. cinaedi bacteremia.

Chest radiographic findings in children with asplenia syndrome.

Background: Early diagnosis of asplenia syndrome is important because prophylactic antibiotic and proper vaccination will prevent serious infection. Most children with asplenia syndrome present with symptoms of congenital heart disease. Chest X-ray is usually the first line imaging modality. Objective: Define useful findings in chest radiograph that could suggest the diagnosis of asplenia syndrome. Methods: Chest radiographs of pediatric patients who had asplenia syndrome diagnosed between January 1, 2002 and June 30, 2008 in a single institute were retrospectively reviewed for the positions of the visceral organs in the chest and abdomen. Results: Three hundred seventy one chest radiographs of 30 patients were reviewed. The mean age at diagnosis was 3 years old. Asplenia was diagnosed by ultrasound in 27 patients, by CT scan in two patients, and by damaged red blood cell scintigraphy in one patient. Six important findings detected from chest radiographs were, 1) bilateral minor fissures, 16 cases (53%), 2) bilateral eparterial bronchi, 16 cases (53%), 3) ipsilateral side of stomach and liver, 12 cases (40%), 4) ipsilateral side of minor fissure or eparterial bronchus and stomach, 10 cases (33%), 5) symmetrical transverse lie of the liver, nine cases (30%), and 6) contralateral side of minor fissure or eparterial bronchus and the liver in seven cases (23%). All except two patients (93%) had at least one of the above findings. All patients had congenital heart diseases. Most of the heart diseases were pulmonary atresia or pulmonary stenosis (88%) and single ventricle (85%). Conclusion: Chest radiographs have high sensitivity in suggesting the diagnosis of asplenia syndrome, when detecting one or more of the above findings, particular in patients with congenital heart disease and decreased pulmonary vasculature.

Asplenia congénita y purpura fulminans neumocóccico en paciente pediátrico: reporte de caso con necropsia y revisión del tema / Congenital asplenia and pneumococcal purpura fulminans in a pediatric patient: case report with pathological findings and review

Absent or defective splenic function is associated with a high risk of fulminant bacterial infections, especially due to encapsulated bacteria. Not knowing this condition may delay medical treatment. Streptococcus pneumoniae is the leading cause of sepsis in these patients. Asplenic patients are at high risk for septic shock and eventually purpura fulminans, a life-threatening condition. We report the case of a 3 years oíd girl, with mitral stenosis and recurrent pneumonía that was admitted due to fever but in the next few hours presented hypotension, purpura and livedo reticularis. Laboratory test showed leucopenia (3.400/mm³), bandemia (43 percent of immature forms), thrombocytopenia, hypoprothombinemia and severe lactic acidosis (ph: 7.0 and lactic acid 11 mmol/1). The patient developed septic shock and multiorganic failure. Mechanical ventilation, volume resuscitation, vasoactive drugs and antibiotic therapy was initiated. Ultrasound was performed on the second day, demostrating asplenia. Peripheral blood smear showed Howell-Jolly bodies. Patient had a positive blood culture for penicillin-resistant Streptococcus pneumoniae (serotype 19F). Patient died of intracerebral hemorrhage after 8 days of admission. Necropsy confirmed asplenia and bilateral suprarenal haemorrhage. Absence of spleen can lead to life threatening infections, it is important to recognize it because vaccination and antibiotic prophylaxis can provide life-saving protection. This case provides a reminder to pursue asplenia as a potential underlying mechanism for invasive bacterial infection in children.

La condición de asplenia predispone a infecciones invasoras por bacterias capsuladas. Desconocer previamente ese antecedente dificulta y retarda el tratamiento médico. Streptococcus pneumoniae es el agente habitualmente causal de sepsis en estos pacientes. Los individuos asplénicos son particularmente proclives a evolucionar con shock séptico y eventual-mente al desarrollo de purpura fulminans, entidad altamente letal. Comunicamos el caso de una paciente con 3 años de edad y antecedente de cardiopatía y neumonías a repetición. Ingresó con compromiso sensorial, febril, hipotensa, con púrpura y livedo reticularis. En los exámenes de laboratorio destacaba la presencia de leucopenia (3.400/ mm³) trombopenia e hipoprotrombinemia (39 por ciento). Se inició ventilación mecánica, reanimación con volumen, fármacos vasoactivos y antibioterapia con vancomicina, clindamicina y ceftriaxona. Evolucionó con shock séptico refractario y síndrome de disfunción orgánica múltiple. Al segundo día de evolución una ecograña de abdomen comprobó la ausencia de bazo. En el frotis sanguíneo se evidenciaron corpúsculos de Howell-Jolly. Hemocul-tivo (+) S. pneumoniae resistente a penicilina (serotipo 19F). Un infarto hemorrágico cerebral ocasionó su deceso al octavo día. El estudio necrópsico corroboró la asplenia y evidenció necrohemorragia suprarrenal bilateral. La sepsis en un paciente asplénico puede ser de alguna forma prevenible mediante profilaxis antimicrobiana y vacunación neumocóccica. Dado los antecedentes de la paciente la búsqueda de asplenia era fundamental.

Diagnosis the fetal asplenia syndrome by prenatal ultrasound / 中华超声影像学杂志

Objective To explore the ultrasonographic manifestations of the fetal with asplenia syndrome. Methods At 21751 cases of fetal systemic ultrasound examination during 20-40 weeks, 4 cases with asplenia syndrome were diagnosed. and the ultrasonographic manifestations of the 4 cases were analyzed retrospectively. Results The ultrasonographic features of fetal asplenia syndrome;①with complex and serious cardiovascular malformation; ②visceral transposition; ③ absence of spleen. Conclusions When the complex cardiovascular malformations were found by prenatal ultrasound,the position of fetal spleen and internal organs in order to early diagnosis of fetal asplenia syndrome.

Overwhelming Pneumococcal Infection Due to Congenital Hyposplenism or Asplenia in Adults / General Medicine

We recently encountered a case of fatal pneumococcal infection in a previously healthy 19-year-old female. She had no history of splenectomy, but on autopsy she was found to have hyposplenism. It has been widely reported that life-threatening pneumococcal infection can occur after splenectomy, though cases of hyposplenic or asplenic adults, without a history of splenectomy, are very rare. We report this case and review the literature dealing with 6 similar cases.

Asplenia(right atrial isomerism) diagnosed by prenatal ultrasonography: Report of One Case / 대한산부인과학회잡지

The syndromes of left atrial isomerism and right atrial isomerism, called polysplenia and asplenia syndromes, respectively, consist of congenital heart defects with disturbances in normal left right isometry, and the etiology of atrial isomerism remains unclear. Right atrial isomerism is traditionally associated with severe cardiac defects, especially complete atrioventricular septal defect, transposition of great arteries, pulmonary atresia, and total anomalous pulmonary venous return. Recently, we encountered one case of asplenia diagnosed by prenatal ultrasonography. We report a case with brief review of the literatures.