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Cardiac congenital defects related to inheritance and teratogenesis have been reported in veterinary species and humans worldwide. Among these, ectopia cordis (EC), characterized by an externalized heart through a cleft, is extremely rare in sheep. This report presents the diagnostic features of two cases of complete thoracic EC in newborn lambs. Clinical findings in the lambs, aside from the EC, were unremarkable. Both animals exhibited exteriorized hearts without pericardial coverage, delineated in the thoracic cleft by a fibrous ring of the pericardium and adjacent skin. Histologically, the epicardium was thickened by fibrous tissue in both lambs, with one animal also showing marked edema, hemorrhage, and neutrophilic inflammatory infiltration. The prognosis of EC in the lambs of this study was poor, with fatal outcomes despite attempts at surgical correction.

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Diagnosis of developmental dysplasia of the hip (DDH) mostly relies on physical examination and ultrasound, and both methods are operator-dependent. Late detection can lead to complications in young adults. Current evidence supports the involvement of environmental and genetic factors, such as single nucleotide variants (SNVs). Incorporating genetic factors into diagnostic methods would be useful for implementing early detection and management of affected individuals. Our aim was to analyze environmental factors and SNVs in DDH patients. We included 287 DDH cases and 284 controls. Logistic regression demonstrated an association for sex (OR 9.85, 95% CI 5.55-17.46, p = 0.0001), family history (OR 2.4, 95% CI 1.2-4.5, p = 0.006), fetal presentation (OR 3.19, 95% CI 1.55-6.54, p = 0.002), and oligohydramnios (OR 2.74, 95%CI 1.12-6.70, p = 0.026). A model predicting the risk of DDH including these variables showed sensitivity, specificity, PPV, and NPV of 0.91, 0.53, 0.74, and 0.80 respectively. The SNV rs1800470 in TGFB1 showed an association when adjusted for covariables, OR 0.49 (95% CI 0.27-0.90), p = 0.02. When rs1800470 was included in the equation, sensitivity, specificity, PPV and NPV were 0.90, 0.61, 0.84, and 0.73, respectively. Incorporating no-operator dependent variables and SNVs in detection methods could be useful for establishing uniform clinical guidelines and optimizing health resources.

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Introducción: las cardiopatías congénitas constituyen defectos estructurales y/o funcionales del corazón y los grandes vasos, como consecuencia de un error en la embriogénesis de estas estructuras. Los defectos septales suelen ser las cardiopatías congénitas más frecuentes. Objetivo: identificar la asociación entre la morfología de las paredes ventriculares y los defectos septales en fetos humanos. Materiales y métodos: se realizó un estudio observacional, descriptivo y transversal en la Facultad de Ciencias Médicas de Pinar del Río Dr. Ernesto Guevara de la Serna y el Departamento de Anatomía Patológica del Hospital General Docente Abel Santamaría Cuadrado, en el período de enero de 2019 a diciembre de 2020, con 54 fetos producto de interrupciones de embarazo indicadas por genética. Resultados: predominaron los defectos de septación en el sexo masculino. La comunicación interventricular fue el defecto de septación más frecuente. El grosor del ventrículo derecho mostró diferencias lineales y estadísticas significativas en relación con la edad gestacional en los tres defectos estudiados. Similares características presentó el grosor del tabique interventricular en los defectos troncoconales. Conclusiones: ante la presencia de defectos septales se observan modificaciones del grosor de los tabiques cardiacos.

Introduction: congenital heart diseases are structural and/or functional defects of the heart and large vessels, as a consequence of an error in the embryogenesis of these structures. Septal defects are usually the most common congenital heart diseases. Objective: to identify the association between ventricular walls morphology and septal defects in human fetuses. Materials and methods: an observational, descriptive and cross-sectional study was carried out in the Medical Sciences Faculty of Pinar del Rio Dr. Ernesto Guevara de la Serna and the Department of Pathological Anatomy of the General Teaching Hospital Abel Santamaría Cuadrado, in the period from January 2019 to December 2020, with 54 fetuses resulting from pregnancy interruptions indicated by genetics Results: septation defects predominated in males. Interventricular communication was the most frequent septation defect. The thickness of the right ventricle showed significant linear and statistical differences in relation to gestational age in the three studied defects. Similar characteristics showed the thickness of the inter-ventricular septum in truncoconal defects. Conclusions: in the presence of septal defects, modifications of the heart septum thickness are observed.

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El doble arco aórtico persistente es una patología caracterizada por anomalías embrionarias en la vascularización, que pueden afectar de manera indirecta a otros sistemas, como el digestivo y el respiratorio. El objetivo de este documento es reportar un caso de doble arco aórtico, persistente en un cachorro Bull terrier, de seis meses de edad. El paciente ingresó a consulta por motivo de regurgitaciones frecuentes y pérdida ponderal. En el estudio radiográfico, se evidenció dilatación esofágica craneal a la base del corazón y en la toracotomía, se confirmó un doble arco aórtico persistente. Se realizó manejo nutricional y posteriormente, corrección quirúrgica de la anomalía vascular. Este es el primer caso de una anomalía de este tipo en Colombia. Se concluye, que un manejo quirúrgico enfocado a liberar el anillo estenosante y a recuperar la función esofágica, son la base terapéutica de este tipo de alteraciones.

Persistent double aortic arch is a pathology characterized by embryonic vascularization anomalies, which can indirectly affect other systems such as the digestive and respiratory systems. The objective of this document is to report a case of persistent double aortic arch in a six-month-old Bull Terrier puppy. The patient was admitted for consultation due to frequent regurgitation and weight loss. The radiographic study revealed cranial esophageal dilation at the base of the heart, and a thoracotomy confirmed a persistent double aortic arch. Nutritional management was performed and subsequently, surgical correction of the vascular anomaly. This is the first case of an anomaly of this type in Colombia. It is concluded that surgical management focused on releasing the stenosing ring and recovering esophageal function are the therapeutic basis for this type of alteration.

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Introducción: El desarrollo alcanzado por la teratología como ciencia y las observaciones clínicas efectuadas por los científicos, permitieron establecer sus principios, representados por una serie de factores que determinan la capacidad de un agente de provocar trastornos congénitos, los cuales resultan actualmente de gran utilidad e importancia en la formación del profesional de la salud y repercuten en el Programa de Atención Materno Infantil. Objetivo: Describir los agentes teratógenos asociados a la aparición de defectos congénitos. Métodos: Se realizó una revisión bibliográfica acerca de los agentes teratógenos y sus posibles efectos teratogénicos en las bases de datos LILACS, SciELO, Clinicalkey y Google Académico, así como en la plataforma Biblioteca Virtual en Salud. Resultados: Las consecuencias de la exposición al teratógeno dependen, entre otras cosas, del momento en que se encuentre el proceso de gestación. Existen múltiples agentes teratógenos y algunos factores de riesgo que frecuentemente concomitan con ellos, por lo que se deben considerar en la prevención primaria para disminuir alteraciones y defectos congénitos por estas noxas ambientales. Consideraciones finales: El conocimiento de los efectos de los agentes teratógenos permite valorar el posible daño al feto.

Introduction: The development reached by teratology as science and the clinical observations made by the scientists, allowed to establish their principles, represented by a series of factors that determine the capacity of an agent to cause congenital dysfunctions, which are at the moment of great utility and importance in the training of health professional and rebound in the Infantile Maternal Care Program. Objective: To describe the teratogen agents associated with the appearance of congenital defects. Methods: A literatura review was carried out about the teratogen agents and their possible teratogenic effects in the LILACS, SciELO, Clinicalkey databases and Academic Google, as well as in the platform Virtual Library in Health. Results: The consequences of the exhibition to the teratogen depend, among other things, of the moment in which is the gestation process. There are multiple teratogen agents and some risk factors that frequently concomitan with them, for what should be considered in the primary prevention to diminish alterations and congenital defects for these environmental noxas. Final considerations: The knowledge of the effects of the agents teratogen allows to value the possible damage to the fetus.

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Background: An omphalocele is a rare congenital malformation characterized by the protrusion of the abdominal contentsthrough the base of the umbilical cord. A defect in the midline of the abdomen results in the abdominal contents beingcovered by a membranous sac near the umbilical cord, which ultimately results in the failure of the abdominal organs toreturn to the abdominal cavity in the early gestational stages and the development of an omphalocele. This study aimed toaddress the diagnosis, medical-surgical management, and treatment for an omphalocele in a newborn calf.Case: A 2-day-old male Red Angus calf, weighing 35 kg, was referred to the HVU-UFSM. According to the owner, theanimal was born via normal delivery, had ingested milk, was alert, and had an enlarged pendulous abdomen at the umbilicus. Physical examination did not show any changes in vital functions; however, intestinal stasis was observed. Anin-depth examination revealed the presence of a round mass of tissue approximately 15 cm in diameter that was fillingthe remnant of the umbilical cord. This structure was covered by a thin, slightly dried membrane that isolated the contentsfrom the external environment. On palpation, the mass was firm and non-reducible, and an omphalocele was suspected.Given the severity of the condition, the animal immediately underwent an emergency surgical procedure to correct thecongenital defect. The surgery involved placing the intestinal loops that were present inside the sac in the abdominal cavity. At the end of the procedure, the animal was placed in a quadrupedal position to better assess omphalocele reduction.Postoperatively, the following medications were administered: a single dose of an analgesic along with a dipyrone andhyoscine-based antispasmodic (25 mg/kg, IM), an enrofloxacin-based antibiotic (2.5 mg/kg, IM) once a day for 7 days...

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Background: An omphalocele is a rare congenital malformation characterized by the protrusion of the abdominal contentsthrough the base of the umbilical cord. A defect in the midline of the abdomen results in the abdominal contents beingcovered by a membranous sac near the umbilical cord, which ultimately results in the failure of the abdominal organs toreturn to the abdominal cavity in the early gestational stages and the development of an omphalocele. This study aimed toaddress the diagnosis, medical-surgical management, and treatment for an omphalocele in a newborn calf.Case: A 2-day-old male Red Angus calf, weighing 35 kg, was referred to the HVU-UFSM. According to the owner, theanimal was born via normal delivery, had ingested milk, was alert, and had an enlarged pendulous abdomen at the umbilicus. Physical examination did not show any changes in vital functions; however, intestinal stasis was observed. Anin-depth examination revealed the presence of a round mass of tissue approximately 15 cm in diameter that was fillingthe remnant of the umbilical cord. This structure was covered by a thin, slightly dried membrane that isolated the contentsfrom the external environment. On palpation, the mass was firm and non-reducible, and an omphalocele was suspected.Given the severity of the condition, the animal immediately underwent an emergency surgical procedure to correct thecongenital defect. The surgery involved placing the intestinal loops that were present inside the sac in the abdominal cavity. At the end of the procedure, the animal was placed in a quadrupedal position to better assess omphalocele reduction.Postoperatively, the following medications were administered: a single dose of an analgesic along with a dipyrone andhyoscine-based antispasmodic (25 mg/kg, IM), an enrofloxacin-based antibiotic (2.5 mg/kg, IM) once a day for 7 days...(AU)

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Pericardial defects are considered rare in animals and humans. Pericardial agenesis is characterized by partial or total pericardial sac malformation. Here is reported a case of apical partial pericardial agenesis in an adult mixed-breed male dog referred for necropsy. The pericardial sac was absent from the apical region up to the middle area of the ventricles resulting in a bilateral ventricular compression by the remaining pericardium changed the organ conformation. Microscopically, there was evidence of neutrophilic and hemorrhagic myocarditis with cardiomyocyte atrophy and interstitial fibrosis. Agenesis is often a subclinical disorder, and it is an incidental postmortem finding in most cases; however, it can cause complications in cases of cardiac structure herniation.(AU)

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RESUMEN La polisindactilia es un defecto congénito que tiene lugar en las manos o en los pies, o en ambos al mismo tiempo y que consiste en la existencia de múltiples dedos supernumerarios además de la fusión de tejido blando y/o óseo entre dedos adyacentes, generando la ausencia total o parcial del espacio entre dos dedos. Se presenta el caso de una paciente femenina de 35 años de edad. No presenta ningún antecedente patológico personal de interés, ni alergias medicamentosas conocidas. Presenta una sindactilia compleja en el dedo pulgar de la mano derecha, con polidactilia preaxil, acompañado de disminución de la movilidad en las articulaciones de este dedo. Esta paciente voluntariamente y con consentimiento informado forma parte del proyecto de investigación "Defectos congénitos del esqueleto apendicular de la institución." Este defecto afecta el 1.2% de los recién nacidos y el 10 % de esta aparición ocurre en las extremidades superiores, siendo la duplicación del pulgar la polidactilia más común de la mano. La polisindactilia es una entidad con muy poca frecuencia, es más común en la población blanca y asiática, en esta entidad es importante el tratamiento temprano para evitar deformidades en el dedo afectado, Idealmente se debe realizar la cirugía entre los 10 y 12 meses de edad.

ABSTRACT Polysyndactyly is a congenital defect that occurs in the hands or feet, or both at the same time and that consists of the existence of multiple supernumerary fingers in addition to the fusion of soft tissue and / or bone between adjacent fingers, generating the total or partial absence of the space between two fingers. The case of a 35-year-old female patient is presented. He does not present any personal pathological history of interest, or known drug allergies. It presents a complex syndactyly in the thumb of the right hand, with preaxial polydactyly, accompanied by decreased mobility in the joints of this finger. This patient voluntarily and with informed consent is part of the research project "Congenital defects of the appendicular skeleton of the institution." This defect affects 1.2% of newborns and 10% of this appearance occurs in the upper extremities, being the duplication of the thumb the most common polydactyly of the hand. Polysyndactyly is an entity with very little frequency, it is more common in the white and Asian population, in this entity early treatment is important to avoid deformities in the affected finger, Ideally, surgery should be performed between 10 and 12 months of age.

RESUMO A polissindactilia é um defeito congênito que ocorre nas mãos ou nos pés, ou ambos ao mesmo tempo e que consiste na existência de múltiplos dedos supranumerários além da fusão de tecidos moles e / ou osso entre os dedos adjacentes, gerando o total ou parcial ausência de espaço entre dois dedos. É apresentado o caso de uma paciente de 35 anos de idade. Ele não apresenta nenhuma história patológica pessoal de interesse ou alergia a medicamentos conhecida. Apresenta sindactilia complexa no polegar da mão direita, com polidactilia pré-axial, acompanhada de diminuição da mobilidade nas articulações deste dedo. Este paciente voluntariamente e com consentimento informado faz parte do projeto de pesquisa "Defeitos congênitos do esqueleto apendicular da instituição". Esse defeito atinge 1,2% dos recém-nascidos e 10% desse aparecimento ocorre nas extremidades superiores, sendo a duplicação do polegar a polidactilia da mão mais comum. A polissindactilia é uma entidade com muito pouca frequência, é mais comum na população branca e asiática, nesta entidade o tratamento precoce é importante para evitar deformidades no dedo afetado. Idealmente, a cirurgia deve ser realizada entre 10 e 12 meses de idade.

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Introducción: La malformación congénita es una alteración estructural de un órgano o parte de este, que sucede como consecuencia de una alteración durante la morfogénesis y que puede corresponder a defectos menores o mayores, únicos, múltiples o asilados. Objetivo: Caracterizar clínica y epidemiológicamente los defectos congénitos del tracto genitourinario. Métodos: Se realizó un estudio observacional retrospectivo en 453 fetos con diagnóstico por ecografía bidimensional de defecto congénito del tracto genitourinario. Para ello se tomó en cuenta la edad materna y gestacional al diagnóstico, antecedentes personales y familiares de interés clínico genético y la conducta terapéutica según criterio médico. Los datos fueron procesados mediante el Programa Microsoft Excel 2010, aplicándoles el método porcentual y los resultados expuestos en forma de tablas. Resultados: El 75,27 por ciento de las anomalías se presentaron en gestantes con edad materna entre 20 y 34 años. El 62,6 por ciento de los defectos fueron diagnosticados en el segundo trimestre del embarazo, con predominio del sexo masculino en los fetos estudiados. La pielocaliectacia (27,3 por ciento) resultó la principal causa de evaluación inicial seguida de la hidronefrosis (26,2 por ciento). Hubo correlación entre el diagnóstico definitivo por ultrasonido y el resultado de la necropsia. Los casos en seguimiento no presentaron ninguna complicación y solo en nueve gestantes se registró interrupción anterior por defectos genitourinarios. Conclusiones: Se constató aumento progresivo del diagnóstico de anomalías congénitas del tracto genitourinario por años de estudio, las pielocaliectacias bilaterales resultaron la principal causa de evaluación inicial(AU)

Introduction: A congenital malformation is a structural alteration of an organ or part of it, which happens as a consequence of an alteration during morphogenesis and may correspond to minor or major, unique, multiple or isolated defects. Objective: To characterize, clinically and epidemiologically, the congenital defects of the genitourinary tract. Methods: A retrospective observational study was carried out in 453 fetuses diagnosed with a congenital defect of the genitourinary tract by using two-dimensional ultrasound. For this, we considered the maternal and gestational ages at diagnosis, personal and family history of clinical genetic interest, and therapeutic behavior according to medical criteria. The data was processed using the program Microsoft Excel 2010, applying the percentage method and the results presented in tables. Results: 75.27 percent of the anomalies occurred in pregnant women with maternal ages between 20 and 34 years. 62.6 percent of the defects were diagnosed at second trimester of pregnancy, with a predominance of the male sex in the studied fetuses. Pyelocaliectasis (27.3 percent) was the main cause of initial evaluation, followed by hydronephrosis (26.2 percent). There was a correlation between the definitive ultrasound diagnosis and the outcome of the autopsy. The follow-up cases did not present any complications and only nine pregnant women presented a previous interruption due to genitourinary defects. Conclusions: A progressive increase in the diagnosis of congenital anomalies of the genitourinary tract was verified for years of study. Bilateral pyelocaliectasis was the main cause of initial evaluation(AU)

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