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.

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.

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.

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.

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.

Route selection for modified fontan in patients with functional single ventricle and apicocaval juxtaposition / 中华胸心血管外科杂志

Objective We reviewed our experience with modified Fontan in patients with functional single ventricle and apicocaval juxtaposition with a special focus on route selection and outcomes.Methods From January 201 1 to April 2016,31 patients with functional single ventricle and apicocaval juxtaposition underwent modified Fontan procedure at our hospital.Mean age at operation was(58.5 ± 32.4) months(ranged 16 months to 14 year),and the mean body weight was (16.2 ± 6.0) kg (range,9.1-40.3 kg).There were right atrial isomerism 7 cases,complete atrioventricular canal defect 9 cases,≥moderate atrioventricular valve regurgitation 4 cases,total anomalous pulmonary venous connection 8 cases,and anomalous hepatic venous connection 4 cases.Fontan procedure was performed in 5 patients,bidirectional Glenn in 13,Kawashima in 3,central shunt in 1,atrioventricular valve replacement in 5,and pulmonary artery banding in 5.Results In 24 patients,the extracardiac conduit was placed between the inferior vena cava(IVC) and the ipsilateral pulmonary artery behind the ventricle.In the 5 other patients,the conduit was placed between the IVC and the contralateral pulmonary artery.In another 2 patients the tube graft was anastomosed with the contralateral pulmonary artery(intraextracardiac Fontan).After operation,the peripheral blood oxygen saturation was 0.90 ±0.06.Five patients suffered pleural effusion,and 1 patient died of infection during hospitalization.The follow-up duration was(17.5 ± 15.4) months(1-65 months).There was no late death and reoperation.Conclusion Modified Fontan procedure in functional single ventricle and apicocaval juxtaposition can be carried out with favorable midterm outcomes.Care must be taken in regard to critical conduit oppression by the ventricle or compression on pulmonary veins.

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.

CTA in diagnosis of congenital heart disease and related heterotaxy syndrome / 中国介入影像与治疗学

Objective To evaluate the value of CTA in assessing congenital heart disease and related heterotaxy syndrome.Methods A total of 20 patients with congenital heart disease and heterotexy syndrome underwent CTA and 3-dimensional reconstructions.And intracardiac and extracardiac abnormalities were assessed.Results Three cases were left isomerism,two of which were bi-lobed left lungs and trilobed right lungs,and another one was bi-lobed lungs.The most common associated cardiovascular anomalies included single ventricle (n=2),atrial septal defect (n=2),ventricular septal defect (n=1),transposition of the great arteries (n=2),pulmonary artery stenosis (n=2),atresia (n=1),persistent left superior vena (n=1),no hepatic segment of inferior vena cava (n=1).The rest 17 cases were right isomerism.All of them were trilobed lungs.Associated cardiovascular anomalies included single ventricle (n=9),double outlet of right ventricle (n=2),endocardial cushion defect (n=6),atrial septal defect (n=10),patent foramen ovale (n=1),ventricular septal defect (n =8),transposition of the great arteries (n =14),pulmonary artery stenosis (n =16),atresia (n =1),pulmonary venous drainage (n=6),persistent left superior vena (n=7),no hepatic segment of inferior vena cava (n=2).Conclusion CTA can clearly show the structure of heart,great vessels,chest and abdomen which is a useful tool to accurately assess congenital heart disease and related heterotaxy syndrome for medical or surgical management.

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.

Route selection for modified fontan in patients with functional single ventricle and apicocaval juxtaposition / 中华胸心血管外科杂志

Objective We reviewed our experience with modified Fontan in patients with functional single ventricle and apicocaval juxtaposition with a special focus on route selection and outcomes.Methods From January 201 1 to April 2016,31 patients with functional single ventricle and apicocaval juxtaposition underwent modified Fontan procedure at our hospital.Mean age at operation was(58.5 ± 32.4) months(ranged 16 months to 14 year),and the mean body weight was (16.2 ± 6.0) kg (range,9.1-40.3 kg).There were right atrial isomerism 7 cases,complete atrioventricular canal defect 9 cases,≥moderate atrioventricular valve regurgitation 4 cases,total anomalous pulmonary venous connection 8 cases,and anomalous hepatic venous connection 4 cases.Fontan procedure was performed in 5 patients,bidirectional Glenn in 13,Kawashima in 3,central shunt in 1,atrioventricular valve replacement in 5,and pulmonary artery banding in 5.Results In 24 patients,the extracardiac conduit was placed between the inferior vena cava(IVC) and the ipsilateral pulmonary artery behind the ventricle.In the 5 other patients,the conduit was placed between the IVC and the contralateral pulmonary artery.In another 2 patients the tube graft was anastomosed with the contralateral pulmonary artery(intraextracardiac Fontan).After operation,the peripheral blood oxygen saturation was 0.90 ±0.06.Five patients suffered pleural effusion,and 1 patient died of infection during hospitalization.The follow-up duration was(17.5 ± 15.4) months(1-65 months).There was no late death and reoperation.Conclusion Modified Fontan procedure in functional single ventricle and apicocaval juxtaposition can be carried out with favorable midterm outcomes.Care must be taken in regard to critical conduit oppression by the ventricle or compression on pulmonary veins.

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.

Atresia biliar sindrómica en un paciente pediátrico: Reporte de caso / Case Report of Syndromic Biliary Atresia in a Pediatric Patient

La atresia de vías biliares es una colangiopatía obstructiva neonatal de etiología desconocida que produce una lesión del parénquima hepático y de la vía biliar intrahepática y extrahepática. Representa la causa más común de colestasis neonatal y trasplante hepático en la población pediátrica y se manifiesta como malformación aislada en la mayoría de los casos. Se presenta un caso de un paciente de 75 días de vida con atresia de vías biliares asociado a heterotaxia abdominal. El síndrome de atresia biliar y malformación esplénica ha sido descrito previamente como atresia de vías biliares asociado a malformaciones anatómicas del bazo, páncreas, alteraciones cardíacas y en menor frecuencia malformaciones genitourinarias. El pronóstico de los pacientes con atresia de vías biliares ha mejorado notoriamente con el reconocimiento temprano de los signos semiológicos y con la realización de la portoenterostomía (Kasai) en forma oportuna para lograr mejorar la sobrevida de los pacientes con atresia de vías biliares sindrómica.

Biliary atresia is an obstructive neonatal cholangiopathy of unknown etiology that produces damage to the parenchyma of the liver and to the intrahepatic and extrahepatic bile ducts. It is the most common cause of neonatal cholestasis and liver transplantation in the pediatric population. In most cases it manifests as an isolated malformation. This article presents the case of a 75 day old patient with biliary atresia associated with abdominal heterotaxy. Biliary atresia syndrome together with splenic malformation has been previously described, as have biliary atresia associated with anatomical malformations of the spleen, pancreas, and heart. It occurs with genitourinary malformations less frequently. The prognosis of patients with biliary atresia has significantly improved with early recognition of signs and symptoms and timely performance of hepatoportoenterostomy (Kasai portoenterostomy).

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.

Heart Transplantation in a Patient with Left Isomerism

We report the case of a 37-year-old man who suffered from biventricular failure due to left isomerism, inferior vena cava interruption with azygos vein continuation, bilateral superior vena cava, double outlet of right ventricle, complete atrioventricular septal defect, pulmonary stenosis, and isolated dextrocardia. Heart transplantation in patients with systemic venous anomalies often requires the correction and reconstruction of the upper & lower venous drainage. We present a case of heart transplantation in a patient with left isomerism, highlighting technical modifications to the procedure, including the unifocalization of the caval veins and reconstruction with patch augmentation.

Results of surgical treatment for patients with heterotaxy syndrome and cardiac anomaly / 中华胸心血管外科杂志

Objective To evaluate the results of surgical treatment for patients with heterotaxy syndrome and cardiac anomaly.Methods From September 2008 to October 2013,34 patients with heterotaxy syndrome underwent 46 cardiac operations at Guangzhou Women and Children Medical Center.22 were male,and 12 female.Mean age at operation was 22 months (4 months to 14 year).There were right atrial isomerism 24 cases,left atrial isomerism 10 cases.Only one had a single VSD,and others were all with complex cardiac anomaly,including complete atrioventricular canal defect 26 cases,tricuspid atresia 4 cases,mitral atresia 1 case,anomalous pulmonary venous connection 18 cases,pulmonary venous stenosis 4 cases,double superior vena cava 17 cases,and interrupted hepatic portion of the inferior vena cava 5 cases.Fontan procedure was performed in 5 patients,bidirectional Glenn in 13,Kawashima in 3,central shunt in 1,atrioventricular valve replacement in 5,and pulmonary artery banding in 5.Results There were 4 died during hospitalization.The follow-up duration was 1 month to 5 years.There were 2 died.The early to middle term mortality was 17.6％ (6/34).In the same period the mortality for 103 patients without heterotaxy syndrome underwent univentricular repair was 4.8％ (5/103).There was significant statistical difference (P ＜ 0.05).Conclusion Right heart bypass operation remains the preferred palliative procedure for patients with heterotaxy syndrome,and the eraly and middle term results were satisfied.