Evaluación prenatal del síndrome de heterotaxia por ecografía fetal / Prenatal assessment of heterotaxy syndrome by fetal ultrasound

Resumen El síndrome de heterotaxia es una entidad de baja prevalencia, que tiene su origen durante el desarrollo embrionario, que afecta a diversos órganos y sistemas. Es por ello que su diagnóstico representa un reto durante la gestación. El pronóstico dependerá principalmente de las malformaciones cardiacas asociadas. Se presenta el caso de un paciente con diagnóstico de síndrome de heterotaxia durante el primer trimestre. Se detallan los patrones ecográficos obtenidos durante el tamizaje del primer trimestre que auxiliaron a integrar el diagnóstico de esta entidad, así como las anomalías cardiacas asociadas. El manejo debe contemplar a un equipo multidisciplinario, el cual brinde un manejo oportuno, que será principalmente quirúrgico, enfocado en las malformaciones cardiacas.

Abstract Heterotaxy syndrome is a low prevalence entity, which originates during embryonic development, affecting diverse organs and systems. That is why its diagnosis represents a challenge during pregnancy. The prognosis depends mainly on the associated cardiac malformations. The case of a patient with a diagnosis of heterotaxy syndrome during the first trimester is presented. The ultrasound patterns obtained during the first trimester screening that helped to integrate the diagnosis of this entity are detailed, as well as the associated cardiac anomalies. Management must contemplate a multidisciplinary team, which provides timely management, which will be mainly surgical, focused on cardiac malformations.

Primary abdominal cocoon syndrome, situs inversus totalis and bilateral cryptorchidism: a case report / 中华泌尿外科杂志

This paper reviewed the clinical data of a patient with primary abdominal cocoon syndrome, situs inversus totalis and bilateral cryptorchidism admitted to our hospital in March 2021, and discussed the clinical characteristics of the disease based on the literature. This case is relatively rare, and all three diseases involve congenital abnormalities that may lead to developmental disorders in the embryo. The clinical manifestations of abdominal cocoon syndrome lack of specificity, preoperative diagnosis is difficult, often accompanied by partial dysplasia, so it is necessary to improve the awareness of preoperative differential diagnosis.

Abnormalities of Cardiac Situs and Heart Disease Diagnosed by Echocardiography in Patients with Biliary Atresia

Abstract Background: Left isomerism (LI) is a common finding in patients with biliary atresia (BA), and it can be identified by echocardiography. Several comorbidities may be present in patients with LI, including heart disease. Objective: To investigate the prevalence of LI and heart disease in children (< 18 years of age) with BA followed-up at Hospital das Clínicas, UFMG. Methods: This is a cross-sectional study involving patients diagnosed with BA between February 2016 and April 2020 who underwent transthoracic echocardiography and, in case of situs abnormalities, also electrocardiography. Results: Our study recruited 58 patients (mean age: 3.08 years; female/male ratio: 1.5:1). The general prevalence of situs abnormalities was 8.6% (5/58) and the most common one was LI (4/5 or 80%). One patient had situs inversus. Among patients with situs abnormalities, the general prevalence of heart disease was 80% (4/5), apart from anomalies of the inferior vena cava), with pulmonary valve stenosis (PVS) as the only change seen (75% of mild forms and 25% of moderate forms). Among patients with situs abnormalities, the prevalence of rhythm changes was 80% (4/5), and low atrial rhythm was the most common finding (3/4 or 75%). Conclusion: The prevalence of situs abnormalities in our sample was similar to that described in the literature. We observed an exclusive prevalence of PVS and a high prevalence of rhythm changes among patients with LI. Although the diagnosis of isomerism does not initially add much cardiovascular risk to the sample, possible late deterioration should be considered.

Surgical management of total cavopulmonary connection procedure in functional single ventricle with separate hepatic venous drainage / 中国胸心血管外科临床杂志

@#Objective    To investigate the management of hepatic vein (HV) in patients with functional single ventricle (FSV) and separate hepatic venous drainage (SHVD) undergoing total cavopulmonary connection (TCPC) and evaluate this kind of surgery. Methods    The clinical data of 32 consecutive patients with SHVD who underwent modified TCPC operation from August 2005 to January 2017 in our center were retrospectively analyzed. There were 25 males and 7 females with an average age of 2-19 (8.0±5.0) years and body weight of 11-66 (25.4±15.8) kg. Results    There were 20 patients with heterotaxy syndrome and 12 patients with other types of FSV. SHVD was diagnosed preoperatively in 27 patients, among whom 20 patients were connected by intra-extracardiac Gore-Tex conduit, and the other 7 patients were connected by extracardiac Gore-Tex conduit. Because of the missed diagnosis of SHVD, the other 5 patients showed severe decrease of blood oxygen saturation in the early postoperative period and underwent re-operation soon. The postoperative blood oxygen saturation was 92.0% (90.0%, 96.0%), central venous pressure was 10-23 (15.5±3.5) mm Hg, mechanical ventilation assisted time was 16.0 (7.5, 24.0) h, and ICU stay time was 3.0 (2.0, 5.5) d. There were 3 early and 1 late deaths. Conclusion    Intra-extracardiac conduit is an effective and feasible modified TCPC operation for patients with FSV and SHVD, while the surgical details need to be formulated in combination with individual anatomical structure. Preoperative missed diagnosis of SHVD must be avoided. Otherwise, after TCPC, a large amount of stealing blood from HV with low circulation pressure into atrium would lead to unacceptable hypoxemia.

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.

Feasibility of quantitative measurement of fetal trachea and bilateral bronchial angles by ultrasound to diagnose heterotaxy syndrome in middle and late pregnancy / 中华围产医学杂志

Objective To analyze the feasibility of prenatal ultrasound quantitative measurement of the angles between trachea and bilateral bronchi as a new diagnostic tool for fetuses with heterotaxy syndrome.Methods The angles between trachea and bilateral bronchi were measured at 18-34+6 gestational weeks for 200 fetuses with normal ultrasound findings (normal group) and 41 fetuses with heterotaxy syndrome [35 right atrial isomerisms (right group) and six left atrial isomerisms (left group)] diagnosed by ultrasound and confirmed after abortion or induction (case group) in Chongqing Health Center for Women and Children from October 2015 to December 2018.Scatter plots of left/right bronchus angle (α / β) ratios were drawn.Differences in bilateral bronchus angles between the three groups were statistically analyzed using one-way analysis of variance and paired t-test.Results In the normal group,scatter plots showed the α/β ratios were relatively constant at 0.8-1.0 with larger β than α (t=-33.14,P＜0.05),indicating that the right bronchus always went more steeply than the left one.In the case group,the α/β ratios were around 1.0.In the right group,the α value increased and was close to the β value [(153.90±5.43) ° vs (156.02±5.59) °,t=-2.56,P＞0.05] and presented as bilateral right bronchial angle;in the left group,the β value decreased and was close to the α value [(147.38±3.16)° vs (148.82±5.56) °,t=-1.18,P＞0.05] and presented as bilateral left bronchial angle.There were significant differences in the α and β values among the normal group,the right and left groups (all P＜0.05),and the bronchial angles of the right group were both greater than those of the left group (all P＜0.05).Conclusions Prenatal ultrasound measurement of the angles between trachea and bilateral bronchi can be used as an indirect indicator for the diagnosis of heterotaxy syndrome.

Feasibility of quantitative measurement of fetal trachea and bilateral bronchial angles by ultrasound to diagnose heterotaxy syndrome in middle and late pregnancy / 中华围产医学杂志

Objective@#To analyze the feasibility of prenatal ultrasound quantitative measurement of the angles between trachea and bilateral bronchi as a new diagnostic tool for fetuses with heterotaxy syndrome.@*Methods@#The angles between trachea and bilateral bronchi were measured at 18-34+6 gestational weeks for 200 fetuses with normal ultrasound findings (normal group) and 41 fetuses with heterotaxy syndrome [35 right atrial isomerisms (right group) and six left atrial isomerisms (left group)] diagnosed by ultrasound and confirmed after abortion or induction (case group) in Chongqing Health Center for Women and Children from October 2015 to December 2018. Scatter plots of left/right bronchus angle (α/β) ratios were drawn. Differences in bilateral bronchus angles between the three groups were statistically analyzed using one-way analysis of variance and paired t-test.@*Results@#In the normal group, scatter plots showed the α/β ratios were relatively constant at 0.8-1.0 with larger β than α (t=-33.14, P<0.05), indicating that the right bronchus always went more steeply than the left one. In the case group, the α/β ratios were around 1.0. In the right group, the α value increased and was close to the β value [(153.90±5.43)° vs (156.02±5.59)°, t=-2.56, P>0.05] and presented as bilateral right bronchial angle; in the left group, the β value decreased and was close to the α value [(147.38±3.16)° vs (148.82±5.56)°, t=-1.18, P>0.05] and presented as bilateral left bronchial angle. There were significant differences in the α and β values among the normal group, the right and left groups (all P<0.05), and the bronchial angles of the right group were both greater than those of the left group (all P<0.05).@*Conclusions@#Prenatal ultrasound measurement of the angles between trachea and bilateral bronchi can be used as an indirect indicator for the diagnosis of heterotaxy syndrome.

Autopsy findings of a child with left atrial isomerism associated with pulmonary agenesis / Achados de autópsia de uma criança com isomerismo atrial esquerdo associado à agenesia pulmonar

ABSTRACT Isomerism is a rare laterality defect. Our aim was to describe the autopsy findings of a child with left atrial isomerism (LAI) and pulmonary agenesis (PA), an association still not described in the literature. Fetal ultrasound revealed right renal agenesis, single umbilical artery and polyhydramnios. Echocardiography revealed a complex heart defect with LAI. The child died minutes after birth. Autopsy confirmed the prenatal findings and revealed the presence of unilateral PA, complex vascular abnormalities and polysplenia. Despite its rarity, health professionals should be aware for the possibility of such an association.

RESUMO O isomerismo é um defeito de lateralidade raro. Nosso objetivo foi descrever os achados da autópsia de uma criança com isomerismo atrial esquerdo (IAE) e agenesia pulmonar (AP), uma associação ainda não descrita na literatura. A ultrassonografia fetal revelou agenesia renal direita, artéria umbilical única e polidrâmnio; a ecocardiografia apresentou defeito cardíaco complexo com IAE. A criança morreu minutos após o nascimento. A autópsia confirmou os achados pré-natais e revelou a presença de agenesia pulmonar unilateral, anormalidades vasculares complexas e polisplenia. Apesar de sua raridade, profissionais da saúde devem estar cientes da possibilidade dessa associação.

Diagnosis and treatment of abdominal diseases accompanying situs inversus: report of 13 cases / 中华普通外科杂志

Objective To explore the impact of abdominal situs inversus on the diagnosis and treatment of abdominal diseases.Methods Clinical data and course of 13 abdominal situs inversus cases from January 2012 to December 2016 were retrospectively analyzed.Results A total of 13 cases accounting for 1.5/10 000 of all cases who had abdominal CT were diagnosed situs inversus.6 of them were diagnosed for routine physical examination,4 of them for urinary tract symptoms,and the other 3 for digestive complaints.Conservative treatment or follow-up was prescribed for 8 patients who were asymptomatic and healthy;Five patients received operation,including 2 nephrecctomy,1 pancreatico duodenectomy,1 laparoscopic cholecystectomy,and 1 endoscopic retrograde cholangiopancreatography.All the cases recovered uneventfully.Conclusions Abdominal situs inversus is rare,non-disease entity,usually an incidental finding during clinical examination.It does not affect the therapeutic principle of concurrent primary disease.

Diabetes mellitus due to agenesis of the dorsal pancreas in a patient with heterotaxy syndrome

Heterotaxy syndrome (HS) is a congenital disorder resulting from an abnormal arrangement of visceral organs across the normal left-right axis in the embryonic period. HS is usually associated with multiple anomalies, including defects of the major cardiovascular system and the extracardiovascular system such as intestinal malrotation, abnormal lung lobulation, bronchus anomalies, and pancreatic dysplasia. Although pancreatic dysplasia is occasionally accompanied with HS, the occurrence of diabetes mellitus (DM) due to pancreatic dysplasia in HS is rarely reported. We here report a case involving 13-year-old girl with DM caused by agenesis of the dorsal pancreas and HS diagnosed on the basis of the presence of a double-outlet right ventricle with bilateral pulmonary stenosis and intestinal malrotation with duodenal cyst. Timely diagnosis and treatment with insulin improved glycemic control.

Clinical Characteristics and Independent Factors Related to Long-Term Outcomes in Patients with Left Isomerism

BACKGROUND AND OBJECTIVES: We studied the results of patient management for left isomerism (LI) and sought to determine factors that may influence survival and prognosis. SUBJECTS AND METHODS: We reviewed the medical records of 76 patients who were compatible with LI criteria between 1982 and 2014. RESULTS: Of the total study population, 29 patients (38.1%) had functional univentricular heart disease, 43 patients (56.5%) had cardiac anomalies suitable for biventricular hearts, and four patients (5.2%) had normal heart structure. Extracardiac anomalies were noted in 38.1% of the study population, including biliary atresia in 7.8% of all patients. Of the 25 patients who underwent Kawashima procedures, 24.0% developed pulmonary arteriovenous fistulas (PAVFs). During the median follow-up period of 11.4 years (range: 1 day to 32 years), 14 patients died. The 10-year, 20-year, and 30-year survival rates were 87%, 84%, and 76%, respectively. Preoperative dysrhythmia and uncorrected atrioventricular valve regurgitation were significantly associated with late death. There was no significant difference in the number of surgical procedures and in survival expectancy between patients in the functional single-ventricle group and in the biventricular group. However, late mortality was higher in functional single-ventricle patients after 18 years of age. CONCLUSION: Patients with LI need to be carefully followed, not only for late cardiovascular problems such as dysrhythmia, valve regurgitation, and the development of PAVFs, but also for noncardiac systemic manifestations.

Neonatal asplenia syndrome:clinical characteristics and prognosis of 8 cases / 中国新生儿科杂志

Objective To summarize the clinical characteristics of neonatal asplenia syndrome to improve the understanding of the disorder. Methods Newborns with neonatal asplenia syndrome admitted to the neonatal department of our Hospital from June 2008 to July 2015 were recruited and their gender, birth weight, gestational age, clinical manifestations, imaging features, laboratory examinations, treatments and prognosis were analyzed. Results A total of 8 newborns with asplenia syndrome were studied. All the patients presented with cyanosis at birth, 5 of them with heart murmur, 3 with apical impulse in the right ( dextrocardia) thorax and complex congenital heart diseases were found in all of them by echocardiogram examinations. 2 of them were diagnosed congenital heart diseases before birth by the fetal ultrasound. 2 cases combined with congenital imperforate anus and cutaneous fistulas. 1 case was found right renal agenesis and Howell-Jolly was seen in another case. All the 8 patientsˊ parents refused medical advices about continuing treatments and left hospital. Among them, 4 patients died in the neonatal period, 2 lost in follow-up and only 2 survived, one for 19 months and the other for 4 years. Conclusions Patients with asplenia syndrome presented absence of spleen, visceral inversion, severe cardiovascular malformations and other malformations. When the cyanosis, heart murmur and abnormal position of apical impulse were found in the newborns, asplenia syndrome should be considered and imaging examinations such as chest X-ray, ultrasound, visceral angiography and more should be ordered immediately, in order to make an early diagnosis of the disease.

Presentación clínica y evolución del isomerismo derecho / Clinical Presentation and Outcome of Right Isomerism

Introducción: El dextroisomerismo es una de las formas más complejas de cardiopatías congénitas. Los avances en el tratamiento médico y en los procedimientos quirúrgicos de los últimos años han permitido encarar el manejo de estos pacientes, no obstante lo cual el pronóstico sigue siendo incierto o poco satisfactorio. Objetivo: Comunicar las características clínicas, conductas y resultados del dextroisomerismo en nuestra población hospitalaria. Material y métodos: Estudio de diseño de cohorte retrospectivo realizado en el Hospital Nacional de Pediatría “Prof. Dr. Juan P. Garrahan”. Entre 1997 y 2011 se identificaron 72 pacientes con una mediana de seguimiento de 5,1 años (rango 1-26 años). Resultados: En el 91,7% la presentación fue neonatal, 66 pacientes con cianosis y 6 con insuficiencia cardíaca. Las características anatómicas más frecuentes fueron válvula AV común (n = 56), obstrucción pulmonar (n = 67), conexión ventriculoarterial discordante (n = 44) y tipo doble salida (n = 27), aurícula única (n = 25), vena cava superior bilateral sin innominada (n = 30), anomalía total del retorno venoso pulmonar (ARVP) (n = 43), asplenia (n = 53). Se detectaron anomalías extracardíacas en 11 pacientes. Al 76,38% se les indicó tratamiento quirúrgico, el estadio máximo alcanzado fue la cirugía paliativa en 14 pacientes, Glenn en 17, bypass de ventrículo subpulmonar (BPVP) en 23 y cirugía tipo ventrículo uno y medio en 1 paciente. La mortalidad global fue del 39,45% (n = 28); para los diferentes procedimientos paliativos fue del 29%, para el estadio de Glenn del 29% y para el BPVP, del 21,76%. En el análisis univariado, la mortalidad asociada con ARVP infradiafragmática fue significativa (p = 0,02). Para el estadio de Glenn la mortalidad se relacionó con el Glenn bilateral (p = 0,04), mientras que para el BPVP no se identificó una causa determinada. En los estadios de la cirugía univentricular desarrollaron estenosis de venas pulmonares 3 pacientes, colaterales aortopulmonares 4 pacientes y progresión a insuficiencia AV grave 2 pacientes. Conclusiones: En la mayoría, la edad de presentación fue neonatal y con clínica de cianosis. En el dextroisomerismo, la fisiología univentricular es predominante. Se detectó un 15% de anomalías extracardíacas. La mortalidad de los pacientes no quirúrgicos y con cirugía paliativa estuvo asociada con ARVP infradiafragmática. En el estadio de Glenn, la mortalidad se relacionó con el tipo bilateral. Solamente un tercio de los pacientes pudieron alcanzar el estadio de BPVP. Los eventos en el seguimiento a mediano plazo en los pacientes en los estadios de Glenn y BPVP son frecuentes.

Background: Right isomerism is one of the most complex forms of congenital heart disease. Recent advances in medical treatment and surgical procedures have allowed addressing the management of these patients. Nevertheless, the prognosis remains uncertain or unsatisfactory. Objective: The aim of this study was to report the clinical characteristics, management and outcomes of right isomerism in our hospital population. Methods: This was a retrospective cohort design study conducted at Hospital Nacional de Pediatría “Prof. Dr. Juan P. Garrahan”. Between 1997 and 2011, 72 patients with median followup of 5.1 years (1 and 26 years) were identified. Results: In 91.7% of cases, patients were in the neonatal period, 66 patients with cyanosis and 6 patients with heart failure. The most frequent anatomic lesions were: common AV valve (n=56), pulmonary obstruction (n=67), ventriculoarterial discordance (n=44) and double outlet right ventricle (n=27), commom atrium (n=25), bilateral superior vena cava without innominate vein (n=30), total anomalous pulmonary venous return (APVR) (n=43) and asplenia (n=53). Extracardiac lesions were detected in 11 patients. Cardiovascular surgery was indicated in 76.38% of cases: The maximum stage achieved was palliative surgery in 14 patients, Glenn procedure in 17 patients, subpulmonary ventricular bypass (PVBP) in 23 patients and one and a half ventricular correction in 1 patient. Overall mortality was 39.45% (n=28). Mortality for the different palliative procedures was 29%, for the Glenn stage, 29% and for PVBP, 21.76%. In the univariate analysis, a significant association was found between mortality and infradiaphragmatic APVR (p=0.02). Glenn stage mortality was related to bilateral Glenn procedure (p=0.04), whereas no related cause was identified for PVBP. In the univentricular stages of surgery, 3 patients developed pulmonary vein stenosis, 4 patients developed aortopulmonary collaterals, and 2 patients progressed to AV regurgitation. Conclusions: The majority of cases presented in the neonatal period and with cyanosis characteristics. In right isomerism, univentricular physiology is predominant. Extracardiac anomalies were detected in 15% of cases. Mortality of non-surgical and palliative procedure cases was associated with infradiaphragmatic APVR. Glenn stage mortality was related to bilateral procedures. Only one third of patients could reach PVBP. Events in Glenn and PVBP midterm follow-up are frequent.

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 Rare Case of Heterotaxy Syndrome: Eisenmenger Syndrome with Dextrocardia in an Adult.

Aims: Heterotaxy syndrome is a rare, complex, and confusing presentation in the realm of situs anomalies. The concurrence of heterotaxy syndrome with dextrocardia and Eisenmenger syndrome has never been reported in an adult. We described, for the first time, an adult patient who had heterotaxy syndrome with dextrocardia, complicated by Eisenmenger syndrome with large ventricular septal defect (VSD). Presentation of Case: A 43 year-old female presented to the emergency room with worsening exertional dyspnea. She carried past medical history of cyanotic congenital heart disease since birth. Her physical examination findings were significant for hypoxia and clubbing with cyanotic fingers and toes, dextrocardia, and a 3/6-holosystolic murmur over the right lower sternal border. Laboratory investigation showed polycythemia andher chest x-ray showed dextrocardia. Echocardiography showed dextrocardia with a dilated left ventricle and a large VSD with left-to-right shunting. Computed tomography (CT) angiogram of the chest showed bilateral bi-lobed lungs with both main stem hyparterial bronchi, right-sided polysplenia, right-sided stomach with left-sided dominant liver. Discussion and Conclusion: Heterotaxy syndrome has a complex variation in clinic presentation. We illustrate the occurrence of heterotaxy syndrome, polysplenia type with Eisenmenger syndrome and dextrocardia. Recognition of this rare anomaly is important for establishing a diagnosis in a patient with multiple organ displacement.

The value of two-dimensional ultrasound combined with three-dimensional spatio-temporal image correlation (STIC)in the diagnosis of fetal heterotaxy syndrome / 中华超声影像学杂志

Objective To evaluate the diagnostic accuracy and integrity of two-dimension ultrasound (2DUS)assisted with spatio-temporal image correlation (STIC)for cardiac and vascular abnormalities in fetal heterotaxy syndrome (HS).Methods The retrospective study was conducted from Nov 2007 to Feb 2013.Forty-five fetuses with suspected heterotaxy syndrome on routine prenatal ultrasonic screening underwent STIC volume sweep.The diagnosis was confirmed by pathological or echocardiographic examination.STIC volume data sets of fetal hearts were off-line analyzed blindly by one doctor who had practiced fetal echocardiography for more than five years.The concordance and integrity levels of diagnosis with 2DUS or assisted with STIC were compared according with pathological results.Results There were 397 cardiac and vascular defects in 37 cases of right isomerism.The overall concordance of various defects in right isomerism diagnosed assisted with STIC (96.5%)was significantly higher than that of 2DUS (60.2%) (P 0.05).There was no significant difference in concordance rates of various defects of left isomerism diagnosed between two methods,except that the concordance rate of left atria isomerism diagnosed assisted with STIC was higher(P <0.05).There was no difference in percentages of diagnostic integrity levels (0-3)in left isomerism between two methods.Conclusions STIC technology may provide considerable diagnostic information for ultrasonic diagnosis of fetal heterotaxy syndrome,especially in abnormalities of atria and ventricle isomerism,ventriculo-arterial junction,arterial arches,systematic and pulmonary veins in right isomerism.

Heterotaxy syndrome: a case report / Síndrome heterotáxica: relato de caso

Heterotaxy syndrome is defined as an abnormal arrangement of some organs and vessels in association with dysmorphism. The authors describe the case of a patient with heterotaxy syndrome with poliesplenia incidentally diagnosed during imaging evaluation (computed tomography and small bowel barium study) of unrelated pathological condition.

Síndrome heterotáxica é definida como um arranjo anormal de alguns órgãos e vasos em associação a dismorfismo. Descrevemos o caso de uma paciente com síndrome heterotáxica diagnosticada incidentalmente durante avaliação por imagem (tomografia computadorizada e radiografia contrastada do intestino delgado) de condição patológica não relacionada.

Prenatal diagnosis of atrial isomerism in the Korean population

OBJECTIVE: To report our experiences in the prenatal diagnosis of atrial isomerism and postnatal outcomes. METHODS: A total of 80 fetuses prenatally diagnosed with atrial isomerism were retrospectively analyzed between 1999 and 2011 at a single institution. RESULTS: Of 43 fetuses with prenatally diagnosed right atrial isomerism (RAI), 40 cases were analyzed. The diagnostic accuracy was 93%. The main intracardiac anomalies in RAI were atrioventricular septal defect (AVSD), abnormal pulmonary venous connection, bilateral superior vena cava (BSVC), and pulmonary atresia. Among 28 live births, three infants were lost to follow up, and the overall survival rate was 60%. Of 37 fetuses with prenatally diagnosed left atrial isomerism (LAI), 35 were evaluated. The diagnostic accuracy was 97%. The main intracardiac anomalies in LAI were ventricular septal defect, BSVC, AVSD, double outlet right ventricle, and bradyarrhythmia. Among seven patients with bradyarrhythmia, only one showed a complete atrioventricular block. All fetuses had an interrupted inferior vena cava with azygous continuation. The overall survival rate was 90%. CONCLUSION: Our study confirms the previous findings of fetal atrial isomerism. We also demonstrates a much lower prevalence of AVSD and complete heart block in LAI and a better survival rate in RAI. Although the postnatal outcomes for RAI were worse than those for LAI, successful postnatal surgery with active management improved the survival rate.

Heterotaxy syndrome: a case report / Síndrome de heterotaxia: relato de caso

The present report describes the findings at chest computed tomography angiography of a 28-year-old female patient with heterotaxy syndrome. This syndrome consists of a variety of anomalies of position and morphology of thoracoabdominal organs which do not follow the situs solitus or situs inversus arrangement. Imaging studies play a fundamental role in the individualization of the approach to the patient.

Neste trabalho são apresentados os achados na angiotomografia computadorizada do tórax de uma paciente de 28 anos com síndrome de heterotaxia. Esta consiste em diversas anormalidades de posicionamento e morfologia de órgãos toracoabdominais, que não se enquadram no situs solitus ou situs inversus. Os exames de imagem são fundamentais na individualização da abordagem do paciente.

A Case of Unusual Visceral Heterotaxy Syndrome with Isolated Levocardia

Situs inversus of the abdominal organs in the presence of normally placed heart on the left side of the thorax is known as situs inversus with isolated levocardia. This rare condition is commonly associated with severe congenital defects of the heart. We report a case of situs inversus with levocardia in a 19-year-old asymptomatic male patient with completely normal heart on the left chest. Spiral computed tomography of the thorax and abdomen and echocardiographic studies revealed situs inversus of abdominal organs, normal heart (levocardia), mirrored left lungs, a midline liver, a left-sided inferior vena cava connecting to the right atrium, multiple splenic masses in the abdominal right upper quadrant, and aneurysmal dilatation of a splenic artery.