[Multidisciplinary management of esophageal affections: Two challenging cases]. / Manejo multidisciplinario de la enfermedad esofágica: dos casos complejos.

Esophageal pathologies can exhibit extremely low incidence and prevalence rates. Therefore, it is essential to have multidisciplinary teams including surgeons specialized in esophageal pathology, with a high caseload, to ensure proper diagnosis and management. This manuscript presents a series of esophageal pathology cases with favorable outcomes and atypical resolution for non-specialized groups. However, failure to refer to specialists in a timely manner can result in missed diagnoses or poor quality of life for patients. These findings underscore the importance of having surgeons specialized in esophageal pathology and multidisciplinary teams to provide the best possible care for patients. Lusoria dysphagia (LD) is a condition caused by vascular compression of the esophagus, resulting from the most common embryological vascular abnormality of the aortic arch: the aberrant right subclavian artery (ARSA) or lusoria artery (LA). This variant occurs in 0.5 to 2.5% of individuals. Necrosis of the gastric tube following an esophagectomy is a rare complication with a high mortality rate. Esophageal replacement with coloplasty is the preferred technique for a second attempt at reconstruction. However, this remains a complex surgery with a high rate of complications.

Las enfermedades del esófago pueden presentar una incidencia y prevalencia extremadamente baja. Por lo tanto, es fundamental contar con equipos multidisciplinarios que incluyan cirujanos especializados en afecciones esofágicas, con un alto volumen de casos, para garantizar un diagnóstico y manejo adecuados. En este estudio, se analizan casos de enfermedad esofágica con resultados satisfactorios y una resolución atípica. La falta de derivación a especialistas a tiempo puede llevar a una ausencia de diagnóstico o una baja calidad de vida para los pacientes. Estos hallazgos subrayan la importancia de disponer de cirujanos especializados en esófago y equipos multidisciplinarios para asegurar la mejor atención posible para los pacientes.

Fatal leukodystrophy in Costello syndrome: a case report.

BACKGROUND: Costello syndrome (CS) is a rare genetic condition characterized by dysregulation of the signaling pathway, phenotypic alteration due to fetal macrosomia or growth retardation, facial abnormalities, loose skin, cardiovascular abnormalities, and a variable degree of intellectual disability. CASE PRESENTATION: We describe the case of a 20-month-old male patient with fetal macrosomia and polyhydramnios, presenting psychomotor development delay and growth limitation during the first months of life. CS was diagnosed at four months of age after detecting a variant of the HRAS gene c.35G > C (p.G12A). A clinical description of his condition was recorded throughout his life, including cardiovascular diseases, endocrine disorders, and recurrent infections. At 20 months of age, after presenting events of marked hypotonia and generalized seizures, brain magnetic resonance revealed symmetrical lesions of the infra- and supratentorial white matter in both cerebral hemispheres, which resulted in the diagnosis of cerebral leukodystrophy. The patient had a rapid and progressive deterioration that eventually led to death. CONCLUSIONS: This is the first report of a case of CS in Peru. In addition, this is a case that presented with multisystemic conditions culminating in leukodystrophy, which is a rare event according to the literature.

Emergent hybrid surgical approaches for non-dissecting ruptured Kommerell's aneurysm: a case report series.

BACKGROUND: Kommerell's aneurysm is a saccular or fusiform dilatation found in 3-8% of Kommerell's diverticulum cases. A non-dissecting rupture rate of 6% has been reported. If ruptured, emergent surgical correction is usually granted. However, evidence regarding the optimal surgical approach in this acute setting is scarce. In this case report series, we aim to describe our experience managing type-1 non-dissecting ruptured Kommerell's aneurysm with hybrid emergent surgical approaches. CASES PRESENTATION: From January 2005 to December 2020, three cases of type-1 non-dissecting ruptured Kommerell's aneurysm requiring emergent surgical repair were identified. The mean age was 66.67 ± 7.76 years, and 3/3 were male. The most common symptoms were atypical chest pain, dyspnoea, and headache (2/3). The mean aneurysm's diameter was 63.67 ± 5.69 mm. Frozen Elephant Trunk was the preferred surgical approach (2/3). The Non-Frozen Elephant Trunk patient underwent a hybrid procedure consisting of a supra-aortic debranching and a zone-2 stent-graft deployment. We found a mean clamp time of 140 ± 60.75 min, cardiac arrest time of 51.33 ± 3.06 min, and a hospital stay of 13.67 ± 5.51 days. The most common complications were surgical-site infection and shock (2/3). Only one patient died (1/3). CONCLUSION: Evidence of management for non-dissecting ruptured Kommerell's aneurysms is scarce. Additional, robust, and more extensive studies are required. The selection of the appropriate surgical approach is challenging, and each patient should be individualized. Frozen Elephant Trunk was feasible for patients requiring emergent surgical repair in our centre. However, other hybrid or open procedures can be performed.

Abnormal echocardiographic findings after COVID-19 infection: a multicenter registry.

The Coronavirus Disease 2019 (COVID-19) pandemic has transformed health systems worldwide. There is conflicting data regarding the degree of cardiovascular involvement following infection. A registry was designed to evaluate the prevalence of echocardiographic abnormalities in adults recovered from COVID-19. We prospectively evaluated 595 participants (mean age 45.5 ± 14.9 years; 50.8% female) from 10 institutions in Argentina and Brazil. Median time between infection and evaluation was two months, and 82.5% of participants were not hospitalized for their infection. Echocardiographic studies were conducted with General Electric equipment; 2DE imaging and global longitudinal strain (GLS) of both ventricles were performed. A total of 61.7% of the participants denied relevant cardiovascular history and 41.8% had prolonged symptoms after resolution of COVID-19 infection. Mean left ventricular ejection fraction (LVEF) was 61.0 ± 5.5% overall. In patients without prior comorbidities, 8.2% had some echocardiographic abnormality: 5.7% had reduced GLS, 3.0% had a LVEF below normal range, and 1.1% had wall motion abnormalities. The right ventricle (RV) was dilated in 1.6% of participants, 3.1% had a reduced GLS, and 0.27% had reduced RV function. Mild pericardial effusion was observed in 0.82% of participants. Male patients were more likely to have new echocardiographic abnormalities (OR 2.82, p = 0.002). Time elapsed since infection resolution (p = 0.245), presence of symptoms (p = 0.927), or history of hospitalization during infection (p = 0.671) did not have any correlation with echocardiographic abnormalities. Cardiovascular abnormalities after COVID-19 infection are rare and usually mild, especially following mild infection, being a low GLS of left and right ventricle, the most common ones in our registry. Post COVID cardiac abnormalities may be more frequent among males.

Cardiovascular abnormalities in chest radiographs of children with pneumonia, Uganda

Objective To describe chest radiograph findings among children hospitalized with clinically diagnosed severe pneumonia and hypoxaemia at three tertiary facilities in Uganda. Methods The study involved clinical and radiograph data on a random sample of 375 children aged 28 days to 12 years enrolled in the Children's Oxygen Administration Strategies Trial in 2017. Children were hospitalized with a history of respiratory illness and respiratory distress complicated by hypoxaemia, defined as a peripheral oxygen saturation (SpO2 ) <92%. Radiologists blinded to clinical findings interpreted chest radiographs using standardized World Health Organization method for paediatric chest radiograph reporting. We report clinical and chest radiograph findings using descriptive statistics. Findings Overall, 45.9% (172/375) of children had radiological pneumonia, 36.3% (136/375) had a normal chest radiograph and 32.8% (123/375) had other radiograph abnormalities, with or without pneumonia. In addition, 28.3% (106/375) had a cardiovascular abnormality, including 14.9% (56/375) with both pneumonia and another abnormality. There was no significant difference in the prevalence of radiological pneumonia or of cardiovascular abnormalities or in 28-day mortality between children with severe hypoxaemia (SpO2 : <80%) and those with mild hypoxaemia (SpO2 : 80 to <92%). Conclusion Cardiovascular abnormalities were relatively common among children hospitalized with severe pneumonia in Uganda. The standard clinical criteria used to identify pneumonia among children in resource-poor settings were sensitive but lacked specificity. Chest radiographs should be performed routinely for all children with clinical signs of severe pneumonia because it provides useful information on both cardiovascular and respiratory systems

Incidencia y características de los pacientes portadores de defectos congénitos en el Servicio de Neonatología del Centro Hospitalario Pereira Rossell 2016-2020: 5 años de experiencia / Incidence and characteristics of patients with congenital defects at the Pereira Rossell Hospital's Neonatology Department in 2016-2020: 5 years experience / Incidência e características dos pacientes com defeitos congênitos no Serviço de Neonatologia do Centro Hospitalar Pereira Rossell 2016-2020: 5 anos de experiencia

Los defectos congénitos son alteraciones morfológicas que se originan durante la vida intrauterina que se presentan hasta en un 5% de los recién nacidos vivos. Tienen múltiples etiologías, siendo esta multifactorial en el 90% de los casos. Se realizó un estudio observacional, prospectivo, descriptivo incluyendo a todos los recién nacidos portadores de defectos congénitos en el período 2016-2020. El objetivo de este trabajo es determinar la incidencia de defectos congénitos en recién nacidos del Centro Hospitalario Pereira Rossell en el período mencionado, así como conocer su distribución por aparatos y sistemas, las características demográficas de esta población, la prevalencia de diagnóstico prenatal y la exposición materna a factores de riesgo durante la organogénesis. Se obtuvo una incidencia de 1,7% (423 recién nacidos afectados en 24.870 nacimientos), de los cuales el 34,98% contaba con diagnóstico prenatal. El sistema cardiovascular fue el que presentó una mayor frecuencia de alteraciones, y el defecto congénito más frecuentemente observado individualmente fue la gastrosquisis, con una incidencia de 15,28 cada 10.000 nacidos vivos. La diabetes gestacional se presentó en el 17,25% de las gestantes. Este trabajo nos permitió conocer la incidencia de defectos congénitos, así como su distribución por aparatos y sistemas. Este tipo de sistemas de vigilancia resultan fundamentales para identificar elementos a mejorar, que permitan disminuir la morbilidad y mortalidad de estos pacientes y también identificar precozmente factores de riesgo que aumenten estas patologías de forma significativa.

Congenital birth defects are morphological disturbances originated during gestation and present in up to 5% of live births. They have multiple etiologies, in 90% of cases of multifactorial origin. A longitudinal, prospective, observational study was carried out and it included all patients with congenital birth defects in 2016-2020. The main objective of this study was to determine the incidence of newborns with congenital birth defects between 2016 and 2020, to determine their distribution by organ, to describe their demographic characteristics, to calculate the prevalence of prenatal diagnosis and to identify maternal risk factors. We obtained an incidence of 1,7% (423 affected newborns in 24870 live births), 34,98% had prenatal diagnoses. The cardiovascular system was the most frequently affected and when classified by individual birth defect, the most frequently observed was gastroschisis with 15.28 cases in 10,000 live births. Gestational diabetes was the maternal risk factor most frequently observed with 17, 25%. This study enabled us to know the incidence of congenital birth defects and their distribution by different organs at our center. These surveillance systems are key to identify areas of potential improvement that might enable us to mitigate morbidity and mortality in this group of patients.

Os defeitos congênitos são alterações morfológicas que se originam durante a vida intrauterina e ocorrem em até 5% dos recém-nascidos vivos. Possuem múltiplas etiologias, sendo multifatoriais em 90% dos casos. Realizou-se um estudo observacional, prospectivo e descritivo incluindo todos os recém-nascidos com defeitos congênitos no período 2016-2020. O objetivo deste trabalho foi determinar a incidência de defeitos congênitos em recém-nascidos do Centro Hospitalar Pereira Rossell no período 2016-2020, bem como conhecer sua distribuição por órgãos e sistemas, as características demográficas dessa população, a prevalência de diagnóstico pré-natal e exposição materna a fatores de risco durante a organogênese. Obteve-se uma incidência de 1,7% (423 recém-nascidos afetados em 24.870 nascimentos), dos quais 34,98% tiveram diagnóstico pré-natal. O sistema cardiovascular foi o que apresentou maior frequência de alterações, e o defeito congênito mais observado individualmente foi a gastrosquise com incidência de 15,28 em cada 10.000 nascidos vivos. O diabetes gestacional ocorreu em 17,25% das gestantes. Este paper permitiu conhecer a incidência de defeitos congênitos, bem como sua distribuição por órgãos e sistemas. Estes tipos de sistemas de vigilância são essenciais para identificar elementos a melhorar, que permitam reduzir a morbilidade e mortalidade desses pacientes e também identificar precocemente fatores de risco que aumentam significativamente essas patologias.

Doença arterial obstrutiva periférica em pacientes com insuficiência renal crônica dialítica na região de Toledo - Paraná: prevalência e fatores de risco / Peripheral arterial disease in patients with dialytic chronic renal failure in the region of Toledo - Paraná: prevalence and risk factors

Introdução: a doença arterial obstrutiva periférica (DAOP) tem alta prevalência na população em geral e está associada a elevado risco de eventos cardiovasculares. O índice tornozelo-braquial (ITB), é um exame simples e não invasivo, com alta sensibilidade e especificidade no diagnóstico de DAOP. A patologia pode estar associada a diversos fatores de risco, entre eles a doença renal crônica terminal. Contudo, os dados que avaliam sua prevalência e fatores de risco na população de doentes renais crônicos são escassos. Objetivos: Determinar a prevalência e os fatores de risco da doença arterial obstrutiva periférica em pacientes com insuficiência renal crônica dialítica. Metodologia: trata-se de um estudo transversal, que analisou 117 pacientes com doença renal dialítica. Foram avaliados através de um questionário para identificação dos fatores de risco e submetidos ao teste do ITB, sendo considerado diagnóstico de DAOP quando ITB <0,9. Resultados: o presente estudo evidenciou uma prevalência de DAOP em 11% dos pacientes, sendo 10 classificados como DAOP leve e 3 como moderada. Não foram encontrados pacientes com DAOP severa. Entretanto, 54 pacientes (46,2%) apresentaram rigidez de parede vascular. Assim, foi possível verificar que 67 (57,3%) pacientes apresentaram o ITB alterado. Conclusão: a alta prevalência de DAOP em pacientes com doença renal crônica dialíticafoi análoga ao encontrado por outros autores. É importante ressaltar que pacientes com ITB > 1,3 podem gerar resultados falsos-negativos no diagnóstico de DAOP. Devido a isso, a prevalência pode estar subestimada, o que sugere que o ITB nesses pacientes deve ser avaliado com mais atenção.

Background: peripheral arterial disease (PAD) has a high prevalence in the general population and is associated with a high risk of cardiovascular events. The ankle-brachial index (ABI) is a simple noninvasive exam with high sensitivity and specificity in the diagnosis of PAD. Pathology may be associated with several risk factors, including terminal chronic kidney disease. However, data assessing their prevalence and risk factors in the chronic kidney disease population are scarce. Objectives: to determine the prevalence and risk factors of peripheral arterial disease in patients with dialytic chronic renal failure. Methods: this is a cross-sectional study that analyzed 117 patients with dialytic kidney disease. They were evaluated through a questionnaire to identify risk factors and were submitted to the ABI test, being considered a diagnosis of PAD when ABI <0.9. Results: the present study showed a prevalence of PAD in 11% of the patients, 10 classified as mild and 3 as moderate. No patients with severe PAD were found. However, 54 patients (46.2%) had vascular wall stiffness. Thus, it was possible to verify that 67 (57.3%) patients presented altered ABI. Conclusion: the high prevalence of PAD in patients with dialytic chronic kidney disease was similar to that found by other authors. It is important to highlight that patients with ABI> 1.3 may generate false negative results in the diagnosis of PAD. Because of this, the prevalence may be underestimated, suggesting that ABI in these patients should be evaluated more carefully.

Novel use of reverse double switch operation in failed left ventricular recruitment pathway.

In spite of great advances in staged left ventricle recruitment strategy, some patients do not achieve biventricular circulation nor are candidates for reversal to single-ventricle palliation. We present a case of a successful reverse double switch operation in a patient with failure of left ventricle recruitment and pulmonary hypertension. This strategy provided a one-and-a-half repair with a sub-pulmonary hypoplastic left ventricle that improved the patient's clinical status, becoming a novel alternative in this particular subset of patients.

Tetralogy of Fallot Associated with Aberrant Right Subclavian Artery. Clinical Implications. / Tetralogia de Fallot Associada a Artéria Subclávia Direita Aberrante. Implicações Clínicas.

Since the first description of Tetralogy of Fallot (ToF) in 1671 by Niels Stensen and in 1888 by Étienne-Louis Arthur Fallot, numerous papers have reported on this anomaly, along with its variants and concomitant cardiovascular anomalies. Aberrant right subclavian artery (ARSA) is the most common anomaly of the aortic arch. Different from the left aberrant subclavian artery, occurrence of ARSA in ToF-patients has only casuistically been reported so far. The present study reports on two ToF-patients with ARSA. It is important to note that knowledge of the coexistence of both anomalies has highly practical points during surgical or endovascular corrections of congenital heart defects (including ToF).

Desde a primeira descrição da tetralogia de Fallot (ToF) em 1671 por Niels Stensen e em 1888 por Étienne-Louis Arthur Fallot, vários trabalhos relataram essa anomalia juntamente com suas variantes e anomalias cardiovasculares concomitantes. A artéria subclávia direita aberrante (ASDA) é a anomalia do arco aórtico mais comum. Diferentemente da artéria subclávia esquerda aberrante, a ocorrência de ASDA em pacientes com ToF só foi relatada casuisticamente. Apresentamos dois pacientes de ToF com ASDA. É importante notar que o conhecimento da coexistência das duas anomalias tem pontos muito práticos durante correções endovasculares ou cirúrgicas de defeitos cardíacos congênitos (inclusive ToF).

Three Different Strategies for Repair of Symptomatic or Aneurysmatic Aberrant Right Subclavian Arteries.

INTRODUCTION: In this study, we aimed to present three different methods for symptomatic aberrant right subclavian artery (ARSA) surgery. METHODS: We identified 11 consecutive adult patients undergoing symptomatic and/or aneurysmal ARSA repair between January 2016 and December 2020. Symptoms were dysphagia (n=8) and dyspnea + dysphagia (n=3). Six patients had aneurysm formation of the ARSA (mean diameter of 4.2 cm [range 2.8 - 6.3]). All data were analyzed retrospectively. RESULTS: Median age of the patients (7 females/4 males) was 55 years (range 49 - 62). The first four patients (36.4%) underwent hybrid repair using thoracic endovascular aortic repair (TEVAR) and bilateral carotid-subclavian artery bypass (CScBp). Three patients (27.2%) were treated by open ARSA resection/ligation with left mini posterolateral thoracotomy (LMPLT) and right CScBp. And the last four patients (36.4%) underwent ARSA resection/ligation with LMPLT and ascending aorta-right subclavian artery bypass with upper mini sternotomy (UMS). Two of the four patients who underwent TEVAR + bilateral CScBp had continuing dysphagia cause of persistent esophageal compression. Brachial plexus injury developed in one of three patients who underwent LMPLT + right CScBp. Pleural effusion treated with thoracentesis alone was observed in one of four patients who underwent UMS + LMPLT. CONCLUSION: Among the symptomatic and/or aneurysmal ARSA treatment approaches, surgical and hybrid methods are used. There is still no consensus on how to manage these patients. In our study, we recommend the UMS + LMPLT method, since the risk of complications with anatomical bypass is less, and we have more successful surgical results.

Fístula arteriovenosa para hemodiálisis en receptores de trasplante renal e Implicaciones en el síndrome cardiorenal tipo 4 / Arteriovenous fistula for hemodialysis in renal transplant recipients and implications in cardiorenal syndrome type 4

Introducción: La fístula arteriovenosa por vía quirúrgica para hemodiálisis constituye el acceso vascular de elección, para ese proceder depurador, no obstante, repercute negativamente sobre el aparato cardiovascular. Objetivo: Actualizar aspectos conceptuales y conductuales relativos a la permanencia de la fístula arteriovenosa para hemodiálisis posterior al trasplante renal. Métodos: Se revisó la literatura publicada en los últimos cinco años en las bases de datos; PubMed/Medline y Scopus y las fuentes de información; Cochrane Library y Ebsco. Resultados: La repercusión de la fístula arteriovenosa sobre el sistema cardiovascular tiene una marcada incidencia en diferentes alteraciones estructurales y funcionales del corazón que requieren de la adopción de una conducta destinada a evitar el riesgo. Se examinan puntos de vista convergentes y divergentes relacionados con la pertinencia de la fístula arteriovenosa como acceso vascular creado para hemodiálisis y la posibilidad de mantenerla luego del trasplante renal. Conclusiones: La fístula arteriovenosa supone el acceso vascular de apropiado para la supervivencia en hemodiálisis, sin embargo, las consecuencias de su permanencia sobre el aparato cardiovascular implican riesgo añadido de morbilidad y mortalidad(AU)

Introduction: Surgical arteriovenous fistula for hemodialysis is the vascular access of choice, this purifying procedure, however, has negative impact on the cardiovascular system. Objective: To bring up-to-date conceptual and behavioral aspects related to the permanence of the arteriovenous fistula for hemodialysis after renal transplantation. Methods: The literature published in the last five years was reviewed in PubMed/Medline and Scopus and information sources; Cochrane Library and Ebsco databases. Results: The repercussion of the arteriovenous fistula on the cardiovascular system has a marked incidence in different structural and functional alterations of the heart that require the adoption of a behavior to avoid risks. Convergent and divergent points of view related to the relevance of the arteriovenous fistula as a vascular access created for hemodialysis and the possibility of maintaining it after renal transplantation are examined. Conclusions: The arteriovenous fistula is the appropriate vascular access for survival in hemodialysis, however, the consequences of its permanence on the cardiovascular system imply an added risk of morbidity and mortality(AU)

Hybrid Procedure for Coexistence of Coarctation of the Aorta and Aberrant Right Subclavian Artery: A Case Report and Review of the Literature.

Background: Coarctation of the aorta (CoA) can either present alone as an isolated condition or in association with other aortic arch or cardiac anomalies. One percent of patients with CoA have concomitant an aberrant right subclavian artery (ARSA). Purpose: We report the case of a 35-year-old woman with uncontrolled hypertension who was found to have CoA and ARSA. Results: The patient was treated successfully using a hybrid procedure comprising ARSA ligation and subclavian to carotid transposition, followed by thoracic endovascular aortic repair. Conclusions: Patients with CoA should be carefully studied, considering the possible coexistence of other congenital aortic arch defects, such as ARSA. Hybrid repair is a safe and effective approach for this condition.

Effects of an intradialytic cardiovascular rehabilitation program on functional capacity and cardiac function: ICRP trial

Abstract Introduction: Chronic kidney disease (CKD) is a worldwide public health problem associated with an increased risk of death from cardiovascular complications. Although previous studies have described significant improvements in exercise in functional capacity and quality of life in patients with end-stage kidney disease (ESKD), there is a lack of studies that propose to assess its impact on cardiac function using transthoracic echocardiogram (ECHO). In addition, most of the intradialytic exercise protocols are inconsistent, and incomplete regarding their intensity prescription, time of intervention, and monitoring. Methods: The present study aims to evaluate the effects of an intradialytic cardiovascular rehabilitation protocol (ICRP) using medium intensity aerobic exercises, for 30 min. on cardiac function and functional capacity. In this 6-month longitudinal study, heart rate (HR), systolic (SBP) and diastolic (DBP) blood pressure, peripheral oxygen saturation (SpO2) and modified Borg scale will be analyzed in all HD sessions. The cardiac function will be evaluated by left ventricular ejection fraction (LVEF) through ECHO; functional capacity by the six-minute walk test (6MWT); quality of life through the SF-36 questionnaire and routine laboratory tests and KT/Vsp calculation before and after the ICRP. Conclusion: ICRP protocol will be examined and is expected to improve cardiac function, functional capacity, and quality of life in ESKD patients on hemodialysis.

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.

Prenatal Diagnosis of Aberrant Right Subclavian Artery: Association with Genetic Abnormalities.

OBJECTIVE: The objective of the present study was to determine the frequency of malformations and chromosomal abnormalities in a population of fetuses with an aberrant right subclavian artery (ARSA). METHODS: This is a 6-year retrospective study of fetuses with a prenatal diagnosis of ARSA conducted during the period between September 2013 and June 2019 at a fetal medicine unit. Data were collected from ultrasound, fetal echocardiograms, genetic studies, and neonatal records. RESULTS: An ARSA was diagnosed in 22 fetuses. An ARSA was an isolated finding in 18 out of 22 cases (82%). Associated abnormal sonographic findings were found in 4 cases. All cases underwent invasive testing. In 1 of the cases, a chromosomal abnormality was detected (mos 45,X [13]/46,X,e(X) (p22.1q22.1)). No cases of congenital heart disease were found in any of these fetuses. There were two cases in which the postnatal evaluation revealed a malformation: one case of hypospadias and 1 case of cleft palate. CONCLUSION: The presence of an isolated ARSA is benign and is not associated with chromosomal abnormalities. The finding of ARSA, however, warrants a detailed fetal ultrasound in order to exclude major fetal abnormalities and other soft markers.

OBJETIVO: O objetivo do presente estudo foi determinar a frequência de malformaçães e anomalias cromossômicas em uma população de fetos com artéria subclávia direita aberrante (ARSA). MéTODOS: Este é um estudo retrospectivo de 6 anos de fetos com diagnóstico pré-natal de ARSA realizado durante o período de setembro de 2013 a junho de 2019 em uma unidade de medicina fetal. Os dados foram coletados de ultrassom, ecocardiograma fetal, estudos genéticos e registros neonatais. RESULTADOS: Um ARSA foi diagnosticado em 22 fetos. Um ARSA foi um achado isolado em 18 dos 22 casos (82%). Achados ultrassonográficos anormais associados foram encontrados em 4 casos. Todos os casos foram submetidos a testes invasivos. Em um dos casos, foi detectada uma anormalidade cromossômica (mos 45, X [13] / 46, X, e (X) (p22.1q22.1)). Nenhum caso de doença cardíaca congênita foi encontrado em qualquer um desses fetos. Houve dois casos em que a avaliação pós-natal revelou a malformação: um caso de hipospádia e 1 caso de fenda palatina. CONCLUSãO: A presença de ARSA isolado é benigna e não está associada a anormalidades cromossômicas. O achado de ARSA, no entanto, justifica uma ultrassonografia fetal detalhada para excluir anormalidades fetais importantes e outros marcadores leves.

Transradial Approach to Cerebral Aneurysm Occlusion in a Patient with an Aberrant Right Subclavian Artery: A Case Report.

BACKGROUND Retroesophageal right subclavian artery, aberrant right subclavian artery, or lusoria artery constitutes an anatomical variation with a very low prevalence in the general population. Its presence in a patient does not add difficulty for cerebral arteries catheterization when a femoral approach is used, but may make the catheterization of cerebral vessels difficult when a right transradial approach is used. Unfortunately, this type of configuration of the artery is discovered after the decision to use the type of approach. CASE REPORT A 60-year-old woman with a diagnosed subarachnoid hemorrhage was studied with angiography through a transradial approach. A left carotid bifurcation aneurysm was diagnosed after three-vessel angiography was performed with a Simmons type 2 catheter, making a complete loop between the right subclavian artery, aortic arc, and left carotid artery. The ruptured cerebral aneurysm was completely occluded with 8 coils. The microcatheter used for the procedure emerged from the tip of an intermediate catheter located at the union of the vertical and horizontal segment of the petrous segment of the left carotid artery. CONCLUSIONS The presence of an aberrant right subclavian artery during cerebral angiography performed through a right transradial approach renders the treatment of a left carotid cerebral aneurysms more difficult but not impossible. Utilizing an appropriate intermediate catheter allows for stable navigation of the microcatheter and complete treatment of the aneurysm. This is the first report of cerebral aneurysm embolization through a right transradial approach in a patient with an aberrant right subclavian artery.

OCULO-AURICULO-VERTEBRAL SPECTRUM ASSOCIATED WITH ABERRANT SUBCLAVIAN ARTERY IN AN INFANT WITH RECURRENT RESPIRATORY DISTRESS.

OBJECTIVE: To describe an infant with craniofacial microsomia and recurrent respiratory distress associated with aberrant right subclavian artery in order to review its most frequent congenital anomalies and alert the pediatrician to its rarer and more severe complications. CASE DESCRIPTION: This case report involves an 18-month-old male infant, only son of non-consanguineous parents. At birth, the child presented craniofacial dysmorphisms (facial asymmetry, maxillary and mandibular hypoplasia, macrostomia, grade 3 microtia, and accessory preauricular tag) restricted to the right side of the face. Additional tests showed asymmetric hypoplasia of facial structures and thoracic hemivertebrae. No cytogenetic or cytogenomic abnormalities were identified. The patient progressed to several episodes of respiratory distress, stridor, and nausea, even after undergoing gastrostomy and tracheostomy in the neonatal period. Investigation guided by respiratory symptoms identified compression of the esophagus and trachea by an aberrant right subclavian artery. After surgical correction of this anomaly, the infant has not presented respiratory symptoms and remains under multidisciplinary follow-up, seeking rehabilitation. COMMENTS: Craniofacial microsomia presents a wide phenotypic variability compared to both craniofacial and extracraniofacial malformations. The latter, similarly to the aberrant right subclavian artery, is rarer and associated with morbidity and mortality. The main contribution of this case report was the identification of a rare anomaly, integrating a set of malformations of a relatively common condition, responsible for a very frequent complaint in pediatric care.

Prevalence and clinical significance of fetal tricuspid regurgitation during the third trimester of pregnancy / Prevalência e significado clínico da regurgitação tricúspide em fetos no terceiro trimestre da gestação

Abstract Objectives: the aim of this study was to determine the prevalence of fetal tricuspid valve regurgitation (TR) during the third trimester of low-risk pregnancies and to assess its clinical significance on neonates. Methods: this is a cross-sectional study including 330 singleton fetuses referred for routine fetal echocardiography during 3rd trimester in a fetal medicine center in Recife, Brazil. The presence and degree of tricuspid regurgitation were analyzed. Whenever TR was identified on fetal echocardiography, postnatal data, including the results of postnatal echocardiography were reviewed. Results: the prevalence of tricuspid regurgitation was 10.0% (n=33) in the study population. Regarding regurgitation degree, 90.9% (n=30) presented mild regurgitation and none presented important TR. Postnatal data was obtained from 21 neonates. Twenty of them were discharged without any complications, and one presented respiratory distress due to prematurity. Transthoracic echocardiography was performed in 66.7% (n=14) of the neonates and it was normal in 92.9% (n=13) of them. One neonate, 7.1%, persisted with tricuspid regurgitation, but had no other findings. Conclusions: tricuspid regurgitation in fetuses with normal cardiac anatomy during the 3rd trimester is a common condition in low-risk pregnancies, and is not associated with cardiac abnormalities or need for neonatal intervention.

Resumo Objetivos: determinar a prevalência da regurgitação tricúspide (RT) em fetos no terceiro trimestre de gestações de baixo risco e investigar sua repercussão clínica nos recémnascidos. Métodos: trata-se de um estudo transversal incluindo 330 fetos encaminhados para realização de ecocardiograma fetal de rotina no terceiro trimestre da gestação num centro de medicina fetal em Recife, Brasil. A presença e o grau de insuficiência tricúspide foram estudados. Quando RT estava presente ao ecocardiograma fetal dados pós-natais, incluindo ecocardiograma, também foram analisados. Resultados: a prevalência de RT foi de 10,0% na população estudada, sendo que 90,9% (n=30) dos casos foram classificados como RT leve, e nenhum caso de RT importante foi identificado. Foram obtidos dados pós-natais de 21 recém-nascidos. Destes, 20 receberam alta hospitalar sem nenhuma complicação, enquanto 1 apresentou desconforto respiratório associado à prematuridade. Ecocardiograma transtorácico foi realizado em 66.7% (n=14) dos recém-nascidos avaliados, e foi normal em 92.9% (n=13) deles. Apenas 1 recém-nascido, 7.1%, persistiu com RT mas sem outros achados significativos. Conclusões: a RT em fetos com anatomia cardíaca normal é comum no terceiro trimestre de gestações de baixo risco e não parece associar-se a anomalias cardíacas ou necessidade de intervenção no período neonatal.

Prenatal Diagnosis of Aberrant Right Subclavian Artery: Association with Genetic Abnormalities / Diagnóstico pré-natal de artéria subclávia direita anômala: associação com anormalidades genéticas

Abstract Objective The objective of the present study was to determine the frequency of malformations and chromosomal abnormalities in a population of fetuses with an aberrant right subclavian artery (ARSA). Methods This is a 6-year retrospective study of fetuses with a prenatal diagnosis of ARSA conducted during the period between September 2013 and June 2019 at a fetal medicine unit. Data were collected from ultrasound, fetal echocardiograms, genetic studies, and neonatal records. Results An ARSA was diagnosed in 22 fetuses. An ARSA was an isolated finding in 18 out of 22 cases (82%). Associated abnormal sonographic findings were found in 4 cases. All cases underwent invasive testing. In 1 of the cases, a chromosomal abnormality was detected (mos 45,X [13]/46,X,e(X) (p22.1q22.1)). No cases of congenital heart disease were found in any of these fetuses. There were two cases in which the postnatal evaluation revealed amalformation: one case of hypospadias and 1 case of cleft palate. Conclusion The presence of an isolated ARSA is benign and is not associated with chromosomal abnormalities. The finding of ARSA, however, warrants a detailed fetal ultrasound in order to exclude major fetal abnormalities and other soft markers.

Resumo Objetivo O objetivo do presente estudo foi determinar a frequência demalformaçães e anomalias cromossômicas em uma população de fetos com artéria subclávia direita aberrante (ARSA). Métodos Este é um estudo retrospectivo de 6 anos de fetos com diagnóstico prénatal de ARSA realizado durante o período de setembro de 2013 a junho de 2019 em uma unidade de medicina fetal. Os dados foram coletados de ultrassom, ecocardiograma fetal, estudos genéticos e registros neonatais. Resultados Um ARSA foi diagnosticado em 22 fetos. Um ARSA foi um achado isolado em 18 dos 22 casos (82%). Achados ultrassonográficos anormais associados foram encontrados em 4 casos. Todos os casos foram submetidos a testes invasivos. Em um dos casos, foi detectada uma anormalidade cromossômica (mos 45, X [13] / 46, X, e (X) (p22.1q22.1)). Nenhum caso de doença cardíaca congênita foi encontrado em qualquer um desses fetos. Houve dois casos em que a avaliação pós-natal revelou a malformação: um caso de hipospádia e 1 caso de fenda palatina. Conclusão A presença de ARSA isolado é benigna e não está associada a anormalidades cromossômicas. O achado de ARSA, no entanto, justifica uma ultrassonografia fetal detalhada para excluir anormalidades fetais importantes e outros marcadores leves.