Apendicectomía en pacientes con situs inversus: Serie de tres casos con manejo laparoscópico / Appendectomy in patients with situs inversus: Three cases series with laparoscopic approach

Introducción. La transposición de los órganos debido al situs inversus (SI) es una rara afección que dificulta el diagnóstico de la apendicitis aguda. Esta condición hace que la sintomatología del paciente y los hallazgos al examen físico puedan ser atípicos, lo que demanda el uso de imágenes para la confirmación diagnóstica en la mayoría de los casos. Métodos. Se describieron tres casos de apendicitis en pacientes con diagnóstico de situs inversus. Dos de ellos tenían el antecedente conocido, mientras el tercer caso fue diagnosticado de forma intraoperatoria. Resultados. En dos pacientes se decidió llevar a cirugía vía laparoscópica sin imágenes diagnósticas adicionales. Los pacientes evolucionaron de manera satisfactoria. Conclusión. Siempre se debe considerar la apendicitis dentro de los diagnósticos diferenciales en los pacientes con dolor en fosa ilíaca izquierda. Es fundamental diagnosticar y tratar la apendicitis de manera efectiva para minimizar las complicaciones asociadas. La importancia de la anamnesis y la sospecha clínica del examinador son vitales en estos casos, que se pueden confirmar con las imágenes diagnósticas. Pueden existir casos en donde la condición clínica del paciente no permita la realización de estudios diagnósticos por imágenes; esto apoya cada vez más el uso del abordaje laparoscópico. Se recomienda considerar el abordaje laparoscópico en primera instancia, ya que nos permite la confirmación diagnóstica de situs inversus totalis en caso de que el antecedente sea desconocido y facilita el manejo oportuno de la urgencia.

Introduction. Organ transposition due to situs inversus (SI) is a rare condition that makes the diagnosis of acute appendicitis difficult. This condition entails that the patient' symptoms and physical examination findings may be atypical, which requires the use of images for diagnostic confirmation in most cases. Clinical cases. Three cases of appendicitis in patients diagnosed with situs inversus are described. Two of them had a known medical history, while the third case was diagnosed intraoperatively. Results. In two patients it was decided to undergo laparoscopic surgery without additional diagnostic images. The patients progressed satisfactorily. Conclusion. Appendicitis should always be considered in the differential diagnoses in patients with pain in the left iliac fossa. It is essential to diagnose and treat appendicitis effectively to minimize associated complications. The importance of the anamnesis and the examiner's clinical suspicion are vital in these cases, which can be confirmed with diagnostic images. There may be cases where the patient's clinical condition does not allow diagnostic imaging studies to be performed, increasingly supports the use of the laparoscopic approach. It is recommended to consider the laparoscopic approach in the first instance, since it allows us to confirm the diagnosis of situs inversus totalisin case the history is unknown and facilitates timely management of the emergency.

Síndrome de Kartagener y artritis reumatoide. Reporte de caso / Kartagener Syndrome and Rheumatoid Arthritis. Case Report

Presentación del caso. Se trata de una mujer de 26 años de edad, en seguimiento por la especialidad de reumatología desde los 17 años, cuando consultó con historia de un año de evolución de síndrome poliarticular de grandes y pequeñas articulaciones, aditivo, simétrico acompañado de fatiga, rigidez matutina mayor de una hora. Se reportó además factor reumatoide positivo. La radiografía de ambas manos presentó erosiones, que confirmó el diagnóstico de artritis reumatoide. Adicionalmente, la paciente tenía el antecedente de procesos sinobronquiales a repetición desde su infancia. En la evaluación médica se identificó dolor en los senos paranasales, dextrocardia y bronquiectasias, confirmados por los estudios de imágenes, que permitió concluir en el diagnóstico de síndrome de Kartagener. Intervención terapéutica. La paciente presentaba actividad clínica severa de la artritis reumatoide, se inició el tratamiento con metotrexato 10 mg vía oral un día a la semana, prednisona 5 mg al día y ácido fólico 5 mg a la semana y citas periódicas, controlando los datos de actividad y efectos adversos de los medicamentos, con pruebas hepáticas, hemograma y transaminasas. La especialidad de neumología recomendó la inclusión de la paciente en un programa de rehabilitación respiratoria, así como el uso de azitromicina 500 mg cada día por tres días en los períodos de agudización. Evolución clínica. El tratamiento logró mantener una actividad leve de la artritis reumatoide y sin exacerbación de los síntomas respiratorios

Case presentation. A 26-year-old woman, under follow-up by the rheumatology specialty since she was 17 years old, when she consulted with a history of one year of evolution of polyarticular disease of large and small joints, additive, symmetrical, accompanied by fatigue and morning stiffness for more than one hour. Positive rheumatoid factor was also reported. Additionally, the patient had a history of repeated sinobronchial processes since childhood. Medical examination revealed sinus pain in the paranasal sinuses, dextrocardia, and bronchiectasis, confirmed by imaging studies, which led to the diagnosis of Kartagener's syndrome. Treatment. The patient presented the severe clinical activity of rheumatoid arthritis. The treatment was started with methotrexate 10 mg orally one day a week, prednisone 5 mg a day, and folic acid 5 mg a week and periodic appointments, controlling the activity data and adverse effects of the drugs, with liver tests, hemogram, and transaminases. The pneumology department recommended the inclusion of the patient in a respiratory rehabilitation program as well as the use of azithromycin 500 mg every day for three days during periods of exacerbation. Outcome. The treatment was successful in maintaining a mild activity of the rheumatoid arthritis and without exacerbation of respiratory symptoms

Dextrocardia with Situs Solitus in a Neonate - an Overview.

Dextrocardia, a rare congenital heart condition, can occur in about 1 out of every 12,000 pregnancies. Dextrocardia with situs solitus refers to when the heart is on the right side of the thorax while other viscera are found in their normal positions. The condition can go unnoticed in cases of limited prenatal care and newborn evaluation, leading to patients never receiving pertinent cardiac evaluations and condition progression monitoring throughout their lives. This is the first case reported of isolated dextrocardia with situs solitus in a neonate without any additional cardiovascular abnormalities. This case report highlights the importance of prenatal and postnatal evaluation to ensure the identification of neonates with dextrocardia and improve their quality of life and outcomes.

Situs inversus totalis: A challenge for cardiac resynchronization therapy.

Situs inversus totalis (SIT) is a congenital condition in which the major visceral organs are reversed or in a mirror image from their normal positions that affects one per 10,000 live births. It is associated with dextrocardia (DXC) in which the heart is located on the right side of the chest. We present a challenging cardiac resynchronization therapy (CRT) implantation in a 60-year-old man with SIT-DXC, heart failure, extreme bradycardia, wide QRS, and left ventricular (LV) dysfunction. The procedure was complex due to the mirror-image anatomy and the tortuous origin of the coronary sinus (CS) branches that required a subselection catheter for adequate lead implantation.

Identification of a Novel Variant in Myelin Regulatory Growth Factor by Next-Generation Sequencing Led to the Detection of a Clinically Inapparent Congenital Heart Defect in a Patient with a 46,XY Disorder of Sex Development.

In patients with 46,XY disorders of sex development (DSDs), next-generation sequencing (NGS) has high diagnostic efficiency. One contribution to this diagnostic approach is the possibility of applying reverse phenotyping when a variant in a gene associated with multiple organ hits is found. Our aim is to report a case of a patient with 46,XY DSDs in whom the identification of a novel variant in MYRF led to the detection of a clinically inapparent congenital heart defect. A full-term newborn presented with ambiguous genitalia, as follows: a 2 cm phallus, penoscrotal hypospadias, partially fused labioscrotal folds, an anogenital distance of 1.2 cm, and non-palpable gonads. The karyotype was 46,XY, serum testosterone and AMH were low, whereas LH and FSH were high, leading to the diagnosis of dysgenetic DSD. Whole exome sequencing identified a novel, heterozygous, nonsense variant in MYRF, classified as pathogenic according to the ACMG criteria. MYRF encodes a membrane-bound transcriptional factor expressed in several tissues associated with OCUGS syndrome (ophthalmic, cardiac, and urogenital anomalies). In the patient, oriented clinical assessment ruled out ophthalmic defects, but ultrasonography confirmed meso/dextrocardia. We report a novel MYRF variant in a patient with 46,XY DSDs, allowing us to identify a clinically inapparent congenital heart defect by reverse phenotyping.

Cross-sectional evaluation of the saccharin transit time test for primary ciliary dyskinesia: did we discard this tool too soon?

BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare and heterogeneous disease that is difficult to diagnose and requires complex and expensive diagnostic tools. The saccharin transit time test is a simple and inexpensive tool that may assist in screening patients with PCD. OBJECTIVES: This study aimed to compare changes in the electron microscopy findings with clinical variables and saccharin tests in individuals diagnosed with clinical PCD (cPCD) and a control group. DESIGN AND SETTING: An observational cross-sectional study was conducted in an otorhinolaryngology outpatient clinic from August 2012 to April 2021. METHOD: Patients with cPCD underwent clinical screening questionnaires, nasal endoscopy, the saccharin transit time test, and nasal biopsy for transmission electron microscopy. RESULTS: Thirty-four patients with cPCD were evaluated. The most prevalent clinical comorbidities in the cPCD group were recurrent pneumonia, bronchiectasis, and chronic rhinosinusitis. Electron microscopy confirmed the clinical diagnosis of PCD in 16 of the 34 (47.1%) patients. CONCLUSION: The saccharin test could assist in screening patients with PCD due to its association with clinical alterations related to PCD.

Dextrocardia y herniación intratorácica del hígado. Una rara entidad / Dextrocardia and Intrathoracic Herniation of the Liver. A Rare Entity

Introducción: la incidencia de dextrocardia como anomalía congénita es menor del 0.01% y la combinación con herniación intratorácica del hígado semejando una neoplasia benigna sin antecedente de trauma toracoabdominal abierto o contuso lo hace aún menos frecuente. Caso clínico: se presenta el caso de paciente femenina de 34 años de edad que consulta por dolor de espalda. Al examen físico, se auscultan ruidos cardíacos en el hemitórax derecho y la radiografía de tórax evidencia dextrocardia e imagen que semeja masa supra diafragmática derecha, la TAC trifásica confirma la presencia de protrusión de un segmento del hígado de forma redondeada a través de un defecto no abierto del hemidiafragma derecho. Su tratamiento ha sido conservador. Conclusión: la combinación de dextrocardia acompañada de herniación de una porción del hígado a través de un defecto del diafragma derecho es una asociación extremadamente rara y los reportes de caso publicados son escasos

Revascularización miocárdica completa con injertos arteriales en un paciente con dextrocardia / Complete coronary artery bypass grafting in a patient with dextrocardia

Introducción: la dextrocardia es una rara anomalía cardiaca congénita. Aunque la incidencia de enfermedad coronaria es similar a la población en general, son pocos los casos documentados en la literatura. La disposición anatómica en esta anomalía constituye un desafío a la hora de planificar la técnica quirúrgica y los injertos a utilizar. Presentación del caso: paciente de 59 años con enfermedad coronaria de 2 vasos que fue sometido a una cirugía de revascularización arterial completa.

Introduction: dextrocardia is a rare congenital heart abnormality. Although the incidence of coronary heart disease is similar to that in the general population, few cases have been documented in the literature. Anatomic variants in this anomaly are a challenge when planning the surgical technique and the choice of graft configuration to be used. Case presentation: a 59 -year- old patient with 2-vessel coronary artery disease who underwent coronary artery bypass grafting

Scimitar syndrome: is the adult always asymptomatic?

INTRODUCTION: Scimitar syndrome (CS) is a rare congenital cardiac malformation that occurs in 2/100,000 live births with a 2:1 predominance in females, it belongs to the group of partial anomalous pulmonary venous connections, which has numerous described variations, being a subtype that constitutes only 3-5% of congenital cardiac anomalies. It is classified as a heart disease with increased pulmonary and cyanogenic flow, its diagnosis is usually early, but we will highlight the importance of attention to this pathology in adult patients without a previous diagnosis. CASE REPORT: Female patient, 39 years old, with dyspnea for 3 years, with progressive worsening of functional class. On physical examination, pulmonary auscultation was normal with 98% saturation. On cardiac auscultation, regular rhythm, with fixed split S2 and ejective systolic murmur 2+/4+ in the middle right sternal border. A chest X-ray was performed during the investigation, which showed a slightly arched tubular structure towards the right atrium with dextrocardia. In transthoracic echocardiogram evidenced anomalous pulmonary venous connections: the right pulmonary veins drain into the right atrium at the mouth of the inferior vena cava, with free flow, and the left into the left atrium. . Ostium secundum interatrial communication of 13.5 mm with bidirectional flow, significant dilation of the right cavities, with right ventricular myocardium with mild hypertrophy, with preserved function. PSVD 51mmHg and hypoplastic right pulmonary artery. DISCUSSION SC is a rare disease characterized by anomalous venous drainage from the lung directly into the inferior vena cava. The disease may be associated with right pulmonary hypoplasia, dextrocardia, cardiac abnormalities, and systemic pulmonary collaterals. The present case report draws attention to the late discovery of a congenital heart disease, with the patient already symptomatic and with possible important hemodynamic repercussions, highlighting the importance of always evaluating the clinical picture of dyspnea and heart failure in adults during the routine investigation. the presence of a congenital heart disease.

Challenges in Diagnosing Primary Ciliary Dyskinesia in a Brazilian Tertiary Hospital.

Primary ciliary dyskinesia (PCD) causes cellular cilia motility alterations, leading to clinical manifestations in the upper and lower respiratory tract and situs abnormalities. The PCD diagnosis was improved after the inclusion of diagnostic tools, such as transmission electron microscopy and genetic screening; however, the PCD screening is a challenge yet. In this context, we aimed to describe the clinical, genetic, and ultra-ciliary characteristics in individuals with clinical suspicion of PCD (cPCD) from a Brazilian Tertiary Hospital. An observational study was carried out with individuals during the follow-up between 2011 and 2021. The individuals were submitted to clinical questionnaires, transmission electron microscopy, and genetic screening for pathogenic variants in PCD-related genes. Those patients were classified according to the degree of suspicion for PCD. In our study, we enrolled thirty-seven cPCD individuals; 20/37 (54.1%) had chronic rhinosinusitis, 28/37 (75.6%) had bronchiectasis, and 29/37 (78.4%) had recurrent pneumonia. A total of 17/37 (45.9%) individuals had transmission electron microscopy or genetic confirmation of PCD; 10 individuals had at least one positive pathogenic genetic variant in the PCD-related genes; however, only seven patients presented a conclusive result according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology with two pathogenic variants in homozygous or compound heterozygous. The median age at diagnosis was 13 years, and the median time between suspicion and diagnosis was four years. Sixteen patients had class I electron microscopy alterations, seven had class II alterations, and 14 had normal transmission electron microscopy according to the international consensus guideline for reporting transmission electron microscopy results in the diagnosis of PCD (BEAT-PCD TEM Criteria). Genetic screening for pathogenic variants in PCD-related genes and transmission electron microscopy can help determine the PCD diagnosis; however, they are still unavailable to all individuals with clinical suspicion in Brazil. We described ultrastructural alterations found in our population along with the identification of pathogenic variants in PCD-related genes.

Diagnóstico precoce de síndrome de cimitarra pelo ecocardiograma fetal / Early diagnosis of scimitar syndrome by fetal echocardiography

CASO: Paciente de 37 anos, G2P1A0, com 33 semanas de idade gestacional, encaminhada para realização de ecocardiografia fetal devido a desvio da área cardíaca para a direita ao ultrassom morfológico. O ecocardiograma fetal mostrou desvio a direita, dilatação das cavidades cardíacas direitas e do tronco pulmonar, e hipoplasia da artéria pulmonar direita, que media 2 mm (Escore Z de -3,77). As duas veias pulmonares esquerdas drenavam no átrio esquerdo, não sendo visualizadas as veias pulmonares direitas. Dessa forma, analisamos as veias pulmonares direitas, que drenavam em um coletor através de uma veia vertical, e desembocava no átrio direito, próximo à veia cava inferior, sendo feito diagnóstico de drenagem anômala parcial das veias pulmonares direitas infracardíaca, associado à hipoplasia segmentar da artéria pulmonar direita e dextroposição do coração, sugerindo hipoplasia pulmonar à direita, caracterizando a Síndrome de Cimitarra. Não foi visualizado vaso anômalo que evidenciasse sequestro pulmonar. DISCUSSÃO: A síndrome de Cimitarra é uma malformação congênita rara, caracterizada por drenagem pulmonar anômala parcial ou total do pulmão direito, na veia cava inferior, muito associada à hipoplasia do pulmão direito, sequestro pulmonar, persistência de veia cava superior esquerda e dextroposição do coração. Tem uma incidência de cerca de 1-3 a cada 100.000 nascidos vivos, podendo ser maior devido a pacientes assintomáticos. Deve-se suspeitar deste diagnóstico ao ecocardiograma fetal quando houver desvio do mediastino para a direita e hipoplasia da artéria pulmonar direita. A dilatação das cavidades cardíacas direitas pode sugerir a drenagem anômala das veias pulmonares, no entanto, este pode ser um achado normal no terceiro trimestre da gestação ou ser desencadeada por outras cardiopatias, como a coartação de aorta. O sinal de cimitarra, refere-se à imagem semelhante à espada turca convexa que corresponde à drenagem venosa pulmonar anômala direita para a veia cava inferior. COMENTÁRIOS FINAIS: O diagnóstico pré-natal da Síndrome de Cimitarra ao ecocardiograma fetal é importante para o encaminhamento da gestante a uma maternidade de referência, manejo perinatal adequado e planejamento cirúrgico. Portanto, na presença de sinais indiretos de drenagem anômala das veias pulmonares, dextrocardia e hipoplasia do pulmão direito, torna-se necessária a completa visualização da drenagem das quatro veias pulmonares e das dimensões da artéria pulmonar direita.

Isolated dextrocardia with situs solitus in a dog - case report.

Dextrocardia with situs solitus is a rare disorder caused by embryological malformation. It may be asymptomatic and overlooked when isolated, or when it presents with different symptoms and clinical signs associated with other cardiac and extracardiac malformations. The present article describes the radiologic, electrocardiographic, and echocardiographic findings of a Pitbull dog with isolated dextrocardia and situs solitus.

A dextrocardia com situs solitus é uma condição rara decorrente de malformação embriológica. Pode ser assintomática e passar despercebida quando isolada ou apresentar diferentes sintomas e sinais clínicos quando associada a outras malformações cardíacas e extracardíacas. O presente artigo descreve os achados clínicos, radiológicos, eletrocardiográficos e ecocardiográficos encontrados em um cão da raça Pitbull com Dextrocardia isolada com situs solitus.

Situs inversus totalis asociado a transposición de grandes arterias: un diagnóstico temprano / Situs inversus totalis associated with transposition of the great arteries: an early diagnosis

Resumen Introducción: El situs inversus totalis asociado a la transposición de grandes arterias es una condición médica rara y poco descrita. Existen pocos casos reportados con esta asociación, los cuales, en su mayoría, corresponden a pacientes adultos que presentan una transposición de grandes arterias corregida congénitamente. La complejidad del caso descrito está demarcada tanto por su etiología, como por su baja frecuencia de aparición y reto quirúrgico. Caso clínico: se describe el caso de un neonato con diagnóstico antenatal de transposición de grandes arterias, asociado a hallazgo de dextrocardia y dextrogastria que sugirió situs inversus totalis en radiografía de tórax posnatal, en quien se realizó procedimiento de Jatene de mayor complejidad a la usual por su anatomía. Conclusiones: La presencia de una asociación entre el situs inversus totalis y otra malformación anatómica, como la transposición de grandes arterias, es poco frecuente. Sin embargo, dicha asociación es un factor determinante tanto para la realización oportuna del diagnóstico, como para la elección del tratamiento apropiado y la presentación de posibles complicaciones posteriores.

Abstract Introduction: Situs inversus totalis associated with transposition of the great arteries is a rare and infrequently described medical condition. There are few reported cases of this association, most of which are in adult patients with congenitally corrected transposition of the great arteries. Objective: The complexity of the described case is marked by both its etiology as well as its infrequent presentation and surgical challenge. Clinical case: This was a newborn with a prenatal diagnosis of transposition of the great arteries associated with a finding of dextrocardia and dextrogastria which suggested situs inversus totalis on the postnatal chest x-ray, who underwent a more complex Jatene procedure than usual because of his anatomy. Conclusions: Situs inversus totalis associated with another anatomical malformation, such as transposition of the great arteries, is uncommon. However, this association is a determining factor for both timely diagnosis as well as for choosing the appropriate treatment, and for the development of possible subsequent complications.

Implante de marcapaso en paciente con dextrocardia y situs inversus. Desafíos y soluciones / Pacemaker implant in a patient with dextrocardia and situs inversus. Challenges and solutions

Resumen La dextrocardia es una anomalía congénita rara que puede o no asociarse a otras malformaciones congénitas; los adultos con esta condición pueden presentar enfermedad sinusal o trastornos de la conducción auriculoventricular. Se debe analizar la configuración visceroatrial asociada a la dextrocardia para definir las herramientas necesarias (ultrasonido vascular, angiograma venoso, proyecciones fluoroscópicas modificadas, etc.) para la realización exitosa del implante de dispositivos transvenosos en estos pacientes. A continuación, se presenta el caso de una paciente con dextrocardia y situs inversus en quien, por disfunción sinusal, se realizó el implante de un marcapaso bicameral definitivo.

Abstract Dextrocardia is a rare congenital anomaly that may or may not be associated with other congenital malformations; adults with this condition may have sinus disease or atrioventricular conduction disorders. The viscero-atrial configuration associated with dextrocardia should be analyzed to define the necessary tools (vascular ultrasound, venous angiogram, modified fluoroscopic views, etc.) to successfully perform the implantation of transvenous devices in these patients. The following is the case of a patient with dextrocardia and situs inversus who underwent implantation of a permanent dual chamber pacemaker due to sinus dysfunction.

[Primary ciliary dyskinesia in children. Role of electron microscopy in countries with medium economic resources]. / Discinesia ciliar primaria en niños. Rol de la microscopia electrónica en países de medianos recursos económicos.

Primary ciliary dyskinesia (PCD) is a rare genetic disease that produces functional and structural de fects in the cilia. In Peru, no cases of this disease have been reported in the pediatric population. OBJECTIVE: To describe the clinical, radiological and ciliary ultrastructure characteristics in children with PCD, in a country with medium economic resources. CLINICAL CASE: We report 5 patients with PCD treated at the Instituto Nacional de Salud del Niño-Breña (Peru). Age range 1 to 5 years (median 3 years). Three patients were male. The most frequent clinical manifestations were chronic wet cough, rhonchi, coarse crackles, recurrent bronchial obstructive syndrome, and recurrent pneumonia. All patients had atelectasis, three had bronchiectasis, and two had dextrocardia with situs inversus. Two patients had undergone lobectomy. Other causes of recurrent pneumonias were ruled out with im munodeficiency study, chlorine test and pulmonary aspiration The electron microscopy showed ab sence of the inner arm of dynein as the most frequent pattern. All patients received treatment with antibiotics, nebulization with hypertonic saline, and respiratory physiotherapy with good adherence. CONCLUSION: In medium incomes countries, electron microscopy associated with clinical and radio logical characteristics plays an important role in the early diagnosis of this disease. This is the first Peruvian report that contributes to the casuistry and epidemiology of this rare pathology.

An unusual umbilical venous connection to a left posterior intercostal vein.

A foetal echocardiogram, in a 27-week foetus referred for cardiomegaly, demonstrated dextrocardia, absence of the ductus venosus, and an unrestricted unusual umbilical venous drainage to a left posterior intercostal vein, which continued to left hemiazygos vein and drained into the coronary sinus. Progressive cardiomegaly led to early delivery. To the best of our knowledge, no case with similar umbilical venous drainage has been previously reported.

Kartagener's syndrome: a case report

Kartagener's syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive inherited disease, and is characterized by the triad of chronic sinusitis, bronchiectasis, and situs inversus. This paper reports the case of a 27-year-old female presenting with dyspnea on medium exertion, accompanied by chronic cough, non-productive or with clear expectoration. She had recurrent pneumonia until 15 years of age and underwent a lobectomy in the lower lobe of the left lung, probably due to bronchiectasis. Chest computed tomography showed situs inversus totalis, signs of previous surgical manipulation, and mild bronchial thickening. Computed tomography of the paranasal sinuses showed signs of chronic sinusitis due to a probable ciliary kinesis disorder. These finding suggest the diagnosis of Kartagener's syndrome. The prognosis reveals a slow rate of decline in lung function. However, repeated or chronic infections can negatively influence the quality of life of these patients.