Loss of myocardial Hey2/Hrt2 function disrupts rightward shift of atrioventricular cushion tissue and causes tricuspid atresia.

BACKGROUND: Endocardial cushion tissue is primordia of the valves and septa of the adult heart, and its malformation causes various congenital heart diseases (CHDs). Tricuspid atresia (TA) is defined as congenital absence or agenesis of the tricuspid valve caused by endocardial cushion defects. However, little is known about what type of endocardial cushion defect causes TA. RESULTS: Using three-dimensional volume rendering image analysis, we demonstrated morphological changes of endocardial cushion tissue in developing Hey2/Hrt2 KO mouse embryos that showed malformation of the tricuspid valve, which resembled human TA at neonatal period. In control embryos, atrioventricular (AV) endocardial cushion tissues showed rightward shift to form a tricuspid valve. However, the rightward shift of endocardial cushion tissue was disrupted in Hey2/Hrt2 KO embryos, leading to the misalignment of AV cushions. We also found that muscular tissue filled up the space between the right atrium and ventricle, resulting in the absence of the tricuspid valve. Moreover, analysis using tissue-specific conditional KO mice showed that HEY2/HRT2-expressing myocardium may physically regulate the AV shift. CONCLUSION: Disruption of rightward cushion movement is an initial cue of TA phenotype, and myocardial HEY2/HRT2 is necessary for the regulation of proper alignment of AV endocardial cushion tissue.

Diagnóstico prenatal de enfermedad de canal atrio-ventricular, análisis epidemiológico y experiencia CERPO entre 2003 y 2021 / Prenatal diagnosis of atrio-ventricular canal disease, epidemiological analysis and CERPO experience between 2003 and 2021

Antecedentes: En Chile, la mitad de los casos de mortalidad perinatal son atribuibles a anomalías congénitas, y un tercio de estas corresponde a cardiopatías congénitas. Aproximadamente un 35% de estos últimos requerirán cirugía antes del año de vida, por lo que la pesquisa prenatal impacta profundamente en el pronóstico. Objetivo: Dar a conocer los resultados perinatales de pacientes con diagnóstico prenatal de canal atrio-ventricular controlados en el Centro de Referencia Perinatal Oriente (CERPO) entre los años 2003 y 2021, su asociación a otras anomalías, características demográficas y pronóstico a un año. Métodos: En este estudio se puede apreciar que tanto el pronóstico como el plan terapéutico posnatal dependerán de la presencia de otras alteraciones morfológicas y del estudio genético. De los factores estudiados, se puede concluir que tanto la presencia de anomalías cardiacas asociadas, como el grado de insuficiencia valvular y el tipo de canal no son predictores de la sobrevida perinatal. Conclusiones: Finalmente, en relación con la sobrevida posnatal, en este estudio, la sobrevida a un año de los recién nacidos vivos fue de un 52%, pero al desglosarlo en los niños con cariotipo euploide y trisomía 21, estos valores se tornan muy distintos, 44 y 81% respectivamente.

Background: In Chile, half of the perinatal mortality cases are attributable to congenital anomalies, and one third of these correspond to congenital heart disease. Approximately 35% of the later will require surgery before one year of life, so prenatal screening has a profound impact on the prognosis. Objective: To present the perinatal results of patients with a prenatal diagnosis of atrio-ventricular canal controlled at Centro de Referencia Perinatal Oriente CERPO) between 2003 and 2021, its association with other anomalies, demographic characteristics, and 1-year prognosis. Methods: In this study it can be seen that both the prognosis and the postnatal therapeutic plan will depend on the presence of other morphological alterations and the genetic study. From the factors studied, it can be concluded that the presence of associated cardiac anomalies, the degree of valvular insufficiency, and the type of canal are not predictors of perinatal survival. Conclusions: Finally, in relation to postnatal survival, in this study, the 1-year survival of live newborns was 52%, but when broken down into children with euploid karyotype and trisomy 21, these values become very different, 44 and 81% respectively.

National outcomes of the Fontan operation with endocardial cushion defect.

BACKGROUND: The traditional outcomes of the Fontan operation (FO) in endocardial cushion defect (ECD) patients have been suboptimal. Previous studies have been limited by the smaller number of ECD patients, longer study period with an era effect, and do not directly compare short-term outcomes of FO in ECD patients with non-ECD patients. Our study aims to address these shortcomings. METHODS: A retrospective analysis of the Kids Inpatient Database (2009, 2012, and 2016) for the FO was done. The groups were divided into those who underwent FO with ECD as compared to non-ECD diagnosis. The data were abstracted for demographics, clinical characteristics, and operative outcomes. Standard statistical tests were used. RESULTS: Three thousand three hundred eighty patients underwent the FO of which 360 patients (11%) were FO-ECD. ECD patients were more likely to have Down syndrome, Heterotaxy syndrome, transposition/DORV, and TAPVR as compared to non-ECD patients. FO-ECD had a higher discharge-mortality (2.84% vs. 0.45%, p = .04). The length of stay (16 vs. 13 days, p = .05) and total charges incurred ($283, 280 vs. $234, 106, p = .03) for the admission were higher in the FO-ECD as compared to non-ECD patients. In multivariable analysis, ECD diagnosis, cardiac arrest, acute kidney injury, and postoperative hemorrhage were predictors of mortality. CONCLUSION: Contemporary outcomes for FO are excellent with very low overall operative mortality. However, the outcomes in ECD patients are inferior with higher operative mortality than in non-ECD patients. The occurrence of postoperation complications and a diagnosis of ECD were predictive of a negative outcome.

National Fontan Operation short-term outcomes at or below 2-years-of-age compared to older than 2-years-of-age.

INTRODUCTION: Opinion is divided about optimal early timing of the Fontan Operation (FO). While some studies have suggested 3 years-of-age, others have shown good outcomes below 2 years-of-age. We analyzed the impact of age ≤2 years as compared age >2 years on short-term outcome of the FO using a large national database. METHODS: A retrospective analysis of the Kids Inpatient Database (2009-16) for the FO was done. The groups were divided into those who underwent FO at age ≤2 years (Early FO [EF]) as compared to age >2 years (Late FO [LF]). The data was abstracted for demographics, clinical characteristics, and operative outcomes. Standard statistical tests were used. RESULTS: A total of 3381 patients underwent FO during this period of which 1482 (44%) were EF. The mean ages of the EF and LF were 1.6 and 4.3, respectively (p < .001). LF were more likely to be non-White, female, and have Heterotaxy syndrome. HLHS was more common in EF. There was no difference in the discharge mortality, length of stay, disposition (majority went home), and mean total charges incurred. The overall discharge mortality was low at 0.7% (24/3381). In multivariate analysis: cardiac arrest, acute kidney injury, mechanical ventilation >96 h, endocardial cushion defect and non-White ethnicity were predictors of a mortality and not age. CONCLUSION: Contemporary outcomes for FO are excellent with equivalent short-term outcomes in both the age groups. Occurrence of postoperative complications, non-White ethnicity and endocardial cushion defect diagnosis were predictive of a negative outcome.

ERBB3-dependent AKT and ERK pathways are essential for atrioventricular cushion development in mouse embryos.

ERBB family members and their ligands play an essential role in embryonic heart development and adult heart physiology. Among them, ERBB3 is a binding partner of ERBB2; the ERBB2/3 complex mediates downstream signaling for cell proliferation. ERBB3 has seven consensus binding sites to the p85 regulatory subunit of PI3K, which activates the downstream AKT pathway, leading to the proliferation of various cells. This study generated a human ERBB3 knock-in mouse expressing a mutant ERBB3 whose seven YXXM p85 binding sites were replaced with YXXA. Erbb3 knock-in embryos exhibited lethality between E12.5 to E13.5, and showed a decrease in mesenchymal cell numbers and density in AV cushions. We determined that the proliferation of mesenchymal cells in the atrioventricular (AV) cushion in Erbb3 knock-in mutant embryos was temporarily reduced due to the decrease of AKT and ERK1/2 phosphorylation. Overall, our results suggest that AKT/ERK activation by the ERBB3-dependent PI3K signaling is crucial for AV cushion morphogenesis during embryonic heart development.

Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect.

Morbidity and mortality in Down syndrome (DS) are mainly related to congenital heart defects (CHDs). While CHDs with high prevalence in DS (typical CHDs), such as endocardial cushion defects, have been extensively described, little is known about the impact of less common CHDs (atypical CHDs), such as aortic coarctation and univentricular hearts. In our single-center study, we analyzed, in observational, retrospective manner, data regarding cardiac features, surgical management, and outcomes of a cohort of DS patients. Literature review was performed to investigate previously reported studies on atypical CHDs in DS. Patients with CHDs were subclassified as having typical or atypical CHDs. Statistical analysis was performed for comparison between the groups. The study population encompassed 859 DS patients, 72.2% with CHDs, of which 4.7% were atypical. Statistical analysis showed a significant excess in multiple surgeries, all-cause mortality and cardiac mortality in patients with atypical CHDs (p = .0067, p = .0038, p = .0001, respectively). According to the Kaplan-Meier method, survival at 10 and 40 years was significantly higher in typical CHDs (99 and 98% vs. 91 and 84%, log rank <0.05). Among atypical CHDs, it seems that particularly multiple complex defects in univentricular physiology associate with a worse outcome. This may be due to the surgical difficulty in managing univentricular hearts with multiple defects concurring to the clinical picture or to the severity of associated defects themselves. Further studies need to address this specific issue, also considering the higher pulmonary pressures, infective complications, and potential comorbidities in DS patients.

FRS2α-dependent cell fate transition during endocardial cushion morphogenesis.

Atrioventricular valve development requires endothelial-to-mesenchymal transition (EndMT) that induces cushion endocardial cells to give rise to mesenchymal cells crucial to valve formation. In the adult endothelium, deletion of the docking protein FRS2α induces EndMT by activating TGFß signaling in a miRNA let-7-dependent manner. To study the role of endothelial FRS2α during embryonic development, we generated mice with an inducible endothelial-specific deletion of Frs2α (FRS2αiECKO). Analysis of the FRS2αiECKO embryos uncovered a combination of impaired EndMT in AV cushions and defective maturation of AV valves leading to development of thickened, abnormal valves when Frs2α was deleted early (E7.5) in development. At the same time, no AV valve developmental abnormalities were observed after late (E10.5) deletion. These observations identify FRS2α as a pivotal controller of cell fate transition during both EndMT and post-EndMT valvulogenesis.

Genetic Variants at the rs4720169 Locus of TBX20 and the rs12921862 Locus of AXIN1 May Increase the Risk of Congenital Heart Defects in the Mexican Population: A Pilot Study.

Background: Congenital heart defects (CHDs) are the most common type of birth defects and a major cause of infant mortality. Although knowledge of genetic risk variants for CHDs is scarce, most cases of CHDs are considered to be due to multifactorial inheritance. Objective: To analyze the association of 14 single nucleotide polymorphic variants previously associated with a risk of CHDs in a Mexican population with isolated CHDs. Materials and Methods: DNA samples obtained from healthy subjects and from subjects with isolated atrial, ventricular, or atrioventricular septal defects living in Northeastern Mexico were analyzed by real time-polymerase chain reaction for allelic discrimination of genetic variants of the genes TBX1, TBX20, ASTX-18-AS1, AXIN1, MTHFR, NKX2.5, BMP4, and NFATc1. The odds ratios (ORs) for allele and genotype frequencies and inheritance models were obtained. Results: Forty-two patients and 138 controls were included. Two variants were found to confer a risk of CHDs: variant rs4720169 of TBX20 in which the OR for the heterozygous state was 1.88 (95% confidence interval [CI]: 1.12-3.14, p = 0.010), whereas the OR for the homozygous state was 3.82 (95% CI: 1.18-12.3, p = 0.010); and variant rs12921862 of AXIN1 in which the OR for the heterozygous state was 4.15 (95% CI: 2.42-7.10; p ≤ 0.001), whereas the OR for the homozygous state was 9.2 (95% CI: 1.31-64.7, p = 0.008) for allele A. Conclusion: Genetic variants of the TBX20 and AXIN1 genes confer a significantly increased risk of congenital septal heart defects in a population from Northeastern Mexico.

Evolution of the fetal atrioventricular interval from 6 to 40 weeks of gestation

Doppler-based methods of estimating the atrioventricular interval are commonly used as a surrogate for the electrical PR in fetuses at risk of conduction abnormalities; however, to date, normal values for the fetal atrioventricular interval and an understanding of the evolution of its components in the late first trimester are lacking. We sought to investigate changes in the fetal atrioventricular interval from the first trimester to 40 weeks gestational age, and to explore functional and electrophysiological events that potentially impact its evolution. We prospectively examined healthy pregnancies by fetal echocardiography from 6 to 40 weeks' gestational age. The atrioventricular interval, heart rate, isovolumic contraction time, and A-wave duration were measured from simultaneous ventricular inflow-outflow Doppler tracings. Regression analysis was used to examine relations with gestational age, and linear relations with heart rate were assessed by Pearson's correlation coefficient. Data were collected in 305 fetuses from 279 pregnancies. Atrioventricular interval demonstrated an inverse relation with heart rate (r = -0.45, p <0.0001), dramatically decreasing before 10 weeks and slowly increasing thereafter. Between 6 and 9 weeks, isovolumic contraction time acutely decreasedapproaching 0, thereafter minimally increasing to term. In contrast, from 6 weeks, the A-wave duration linearly increased through gestation, and negatively correlated with heart rate (r = -0.62, p <0.0001). In conclusion, we have established normal measures of the atrioventricular interval from 6 to 40 weeks' gestational age. Before 10 weeks, a prolonged atrioventricular interval in healthy fetuses largely reflects the lengthened isovolumic contraction time which is likely influenced by the evolution of ventricular function and afterload. (AU)

Respuesta al ECG de marzo de 2019 / Response to ECG, March 2019

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Cierre transcatéter de la ventana aortopulmonar. ¿Vale la pena un método de cierre alternativo a la cirugía? / Transcatheter device closure of aortopulmonary window. Is there a need for an alternative strategy to surgery?

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Caracterización de las enfermedades valvulares congénitas en la edad pediátrica / Characterization the pediatric patients with diagnostic of illnesses congenital valvulares

Introducción: Las valvulopatías congénitas son un grupo de entidades en las cuales la principal alteración anatomofuncional está en las válvulas cardiacas. Objetivo: Caracterizar los pacientes pediátricos nacidos vivos con diagnósticos de valvulopatías congénitas. Métodos: Se realizó una investigación descriptiva retrospectiva a partir de los registros de valvulopatías congénitas del Servicio de Cardiología del Hospital Pediátrico Universitario José Luis Miranda en Santa Clara, Cuba, en el periodo de 2005 a 2016. La población estuvo conformada por los 147 niños nacidos vivos con diagnóstico de valvulopatías congénitas. Se empleó un muestreo no probabilístico intencional por criterios y la muestra quedó conformada por 143. La recogida de la información se realizó a través de la revisión documental de las historias clínicas. Resultados: La tasa de incidencia de la valvulopatías congénitas fue de 1,5 x 1 000 nacidos vivos, predominó la estenosis pulmonar que agrupó el 70,6 por ciento de los diagnosticados. Se encontró predominio del sexo masculino con 50,3 por ciento, se determinó que 45,5 por ciento de los casos se diagnosticaron antes de los 29 días de nacido, período que incluye un diagnóstico prenatal. Conclusiones: El desarrollo del diagnóstico prenatal de las cardiopatías congénitas ha posibilitado la disminución de la incidencia de las malformaciones más complejas. El conocimiento de las enfermedades congénitas del corazón contribuye a operar de forma segura y con resolución anatómica completa a muchos de estos niños en el período prenatal o cuando son lactantes pequeños, para evitar el deterioro global de estos cuando la cardiopatía no está resuelta(AU)

Introduction: The congenital valvulopatías is a group of entities in which the main alteration anatomofuncional is in the heart valves. Objective: To characterize the pediatric patients with diagnostic of born congenital valvulopatías. Methods: He/she was carried out a retrospective descriptive investigation starting from the registrations of congenital valvulopatías of the service of Cardiology of the Hospital Pediatric University student José Luis Miranda in the period of 2005 at the 2016. The population was conformed by the 147 alive born children with diagnostic of congenital valvulopatías, a sampling was not used intentional probabilístico by approaches, being conformed the sample by 143. The collection of the information was carried out through the documental revision of the clinical histories. Results: The rate of incidence of the congenital valvulopatías was of 1,5 x 1000 born alive, the lung estenosis prevailed containing to 70,6 percent of those diagnosed he/she was prevalence of the masculine sex in 50,3 percent, it was determined that 45,5 percent of the cases was diagnosed before the 29 days where a prenatal diagnosis is included. Conclusions: The development of the prenatal diagnosis of the congenital cardiopatías has facilitated the decrease of the incidence of the most complex malformations. The knowledge of the congenital illnesses of the heart contributes to operate in a sure way and with complete anatomical resolution to many of these children in the prenatal period or when they are small nurslings, to avoid the global deterioration of these when the cardiopatía is not resolved(AU)

Parámetros clínicos, ecocardiográficos y analíticos en pacientes con defecto del septo auriculoventricular con y sin síndrome de Down / Clinical, echocardiographic and analytical parameters in patients with atrioventricular septal defect with and without Down syndrome

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Waiting for Cardiac Procedure in Congenital Heart Disease: Portrait of an a Hospital in the Amazonian Region / Fila de Espera para Tratamento de Pacientes com Cardiopatia Congênita: Retrato de um Centro de Referência Amazônico

Congenital heart disease is an important cause of morbidity and mortality in childhood, and in 50% of cases, surgery is required in the first year of life. A high deficit of surgical procedures is estimated in Northern Brazil. Objective: To analyze the waiting time for elective surgical treatment and/ or intervention in children with congenital heart disease in a Cardiology referral center, and to make considerations about heart diseases and forms of treatment in that institution. Methods: A cross-sectional study of all patients aged less than 14 years, with a diagnosis of congenital heart disease that were waiting for elective surgical or percutaneous cardiac treatment. Results: Among the 407 children with congenital heart defects, the most prevalent age group was > 2 to 6 years (34.0%). The average waiting time was 23.1 ± 18.3 months, with a median of 19. The most frequent heart disease was ventricular septal defect (28.98%), patent ductus arteriosus (18.42%) and atrial septal defect (11.05%). Most children (63.4%) were not from the metropolitan area. The percutaneous interventions represented only 27.84% of the catheterization procedures and 14,85% of all heart treatments. Approximately 60% of the pediatric surgeries occurred in children who were not previously registered due to urgency cases. Conclusion: Most of the children waiting for a cardiac procedure were not from the metropolitan area and had malformations potentially treatable by catheterization. It is necessary to increase the capacity of the single referral center in the state of Pará, as well as decentralize the high-complexity cardiological care in the metropolitan region

As cardiopatias congênitas são importantes causas de morbimortalidade infantil e, em cerca de 50% dos casos, é necessária a intervenção cirúrgica no primeiro ano de vida. Estima-se alto défice de procedimentos na Região Norte do Brasil. Objetivo: Analisar o tempo de espera para realização de tratamento eletivo cirúrgico e/ou intervencionista de crianças portadoras de cardiopatias congênitas em um centro de referência cardiológico, e fazer considerações sobre as cardiopatias e suas formas de tratamento na referida instituição. Método: Estudo analítico, de caráter transversal do período de janeiro de 2012 a outubro de 2014, de pacientes com idade igual ou inferior a 14 anos diagnosticados com cardiopatias congênitas que estavam na fila de tratamento cardíaco eletivo cirúrgico ou percutâneo. Resultados: Das 407 crianças que aguardavam por tratamento, a faixa etária mais prevalente foi a de > 2 a 6 anos (34,0%). O tempo médio de espera, em meses, foi 23,1 ± 18,3, com mediana de 19. As cardiopatias mais frequentes foram comunicação interventricular (28,98%), persistência do canal arterial (18,42%) e comunicação interatrial (11,05%). A maioria das crianças (63,4%) não pertencia à região metropolitana. As intervenções percutâneas representaram somente 27,84% do total de cateterismos e 14,85% de todos os tratamentos cardíacos. Cerca de 60% do volume de cirurgias pediátricas ocorreu em crianças sem cadastro prévio no sistema, devido ao caráter de urgência. Conclusão: Grande parte das crianças que aguardam por procedimento cardíaco é procedente de fora da região metropolitana e tem malformações potencialmente tratáveis por cateterismo. É necessário aumentar a capacidade operacional do único centro de referência público do Estado, além de descentralizar o atendimento em alta complexidade cardiológica da região metropolitana

Fila de espera para tratamento de pacientes com cardiopatia congênita: relato de um Centro de Referência Amazônico / Waiting for cardiac procedure in congenital heart disease: portrait of an Amazonian Hospital

As cardiopatias congênitas são importantes causas de morbimortalidade infantil e, em cerca de 50% dos casos, é necessária a intervenção cirúrgica no primeiro ano de vida. Estima-se alto défice de procedimentos na Região Norte do Brasil.Analisar o tempo de espera para realização de tratamento eletivo cirúrgico e/ou intervencionista de crianças portadoras de cardiopatias congênitas em um centro de referência cardiológico, e fazer considerações sobre as cardiopatias e suas formas de tratamento na referida instituição. Estudo analítico, de caráter transversal do período de janeiro de 2012 a outubro de 2014, de pacientes com idade igual ou inferior a 14 anos diagnosticados com cardiopatias congênitas que estavam na fila de tratamento cardíaco eletivo cirúrgico ou percutâneo. Das 407 crianças que aguardavam por tratamento, a faixa etária mais prevalente foi a de > 2 a 6 anos (34,0%). O tempo médio de espera, em meses, foi 23,1 ± 18,3, com mediana de 19. As cardiopatias mais frequentes foram comunicação interventricular (28,98%), persistência do canal arterial (18,42%) e comunicação interatrial (11,05%). A maioria das crianças (63,4%) não pertencia à região metropolitana. As intervenções percutâneas representaram somente 27,84% do total de cateterismos e 14,85% de todos os tratamentos cardíacos. Cerca de 60% do volume de cirurgias pediátricas ocorreu em crianças sem cadastro prévio no sistema, devido ao caráter de urgência. Grande parte das crianças que aguardam por procedimento cardíaco é procedente de fora da região metropolitana e tem malformações potencialmente tratáveis por cateterismo. É necessário aumentar a capacidade operacional do único centro de referência público do Estado, além de descentralizar o atendimento em alta complexidade cardiológica da região metropolitana

Congenital heart disease is an important cause of morbidity and mortality in childhood, and in 50% of cases, surgery is required in the first year of life. A high deficit of surgical procedures is estimated in Northern Brazil. To analyze the waiting time for elective surgical treatment and/or intervention in children with congenital heart disease in a Cardiology referral center, and to make considerations about heart diseases and forms of treatment in that institution. A cross-sectional study of all patients aged less than 14 years, with a diagnosis of congenital heart disease that were waiting for elective surgical or percutaneous cardiac treatment. Among the 407 children with congenital heart defects, the most prevalent age group was > 2 to 6 years (34.0%). The average waiting time was 23.1 ± 18.3 months, with a median of 19. The most frequent heart disease was ventricular septal defect (28.98%), patent ductus arteriosus (18.42%) and atrial septal defect (11.05%). Most children (63.4%) were not from the metropolitan area. The percutaneous interventions represented only 27.84% of the catheterization procedures and 14,85% of all heart treatments. Approximately 60% of the pediatric surgeries occurred in children who were not previously registered due to urgency cases. Most of the children waiting for a cardiac procedure were not from the metropolitan area and had malformations potentially treatable by catheterization. It is necessary to increase the capacity of the single referral center in the state of Pará, as well as decentralize the high-complexity cardiological care in the metropolitan region

[Prenatal diagnosis and genetic analysis of a fetus with endocardial cushion defects].

OBJECTIVE: To perform prenatal diagnosis for a fetus with endocardial cushion defect and explore its mechanism. METHODS: The karotypes of the fetus and its parents were analyzed by routine G-banding. Their genomic DNA was also analyzed by array comparative genomic hybridization (aCGH). RESULTS: The fetus and its mother were found to have a karyotype of 46, XX, inv(8)(p21q24.1), while no karyotypic abnormality was detected for the father. aCGH has detected a 15.14 Mb deletion at 8p23.3-p22 and a 6.87 Mb duplication at 8q24.23-q24.3 in the fetus. CONCLUSION: The fetus was diagnosed with Rec8 syndrome. Its abnormal chromosomes have derived from the inv(8) carried by its mother. GATA4 and SOX7 may be the key genes for the endocardial cushion defect found in the fetus.

Marcadores ecográficos en la detección del síndrome de Down / Ultrasound markers in the detection of Down's s yndrome

Introducción: el síndrome de Down es el resultado de la triplicación del material genético derivado del cromosoma 21. Aproximadamente 94 por ciento de los casos se originan a partir de la ausencia de disyunción en la primera meiosis. En los últimos años el desarrollo tecnológico de la ultrasonografía de alta resolución y su empleo en el examen de la anatomía fetal han permitido describir múltiples marcadores genéticos de cromosomopatías en el feto, especialmente la trisomía 21.Objetivo: presentar un caso que ilustra la utilidad de la detección prenatal de marcadores ecográficos del síndrome de Down.Presentación del caso: paciente de 35 años y 20 semanas de gestación a cuyo feto se le detectó, en el ultrasonido prenatal, cardiopatía grave, enfermedad que afecta a 40-50 por ciento de los fetos con trisomía 21. Por ello se procedió a la búsqueda ultrasonográfica de otros marcadores ecográficos del síndrome de Down. De acuerdo a los hallazgos ultrasonográficos identificados y los criterios diagnósticos la pareja recibió asesoría multidisciplinaria en el Centro Provincial de Genética Médica, y decidió la interrupción electiva de la gestación. Mediante el examen anatomopatológico del feto se confirmó la presencia de los hallazgos identificados en el ultrasonido prenatal.Conclusiones: aunque el estudio citogenético se considera el método definitivo para el diagnóstico prenatal de cromosomopatías, la alta sensibilidad de la ecografía permite detectar marcadores consistentes con síndrome de Down. Esta pudiera ser una alternativa para evitar la realización de procedimientos invasivos como la amniocentesis genética o biopsia corial en embarazadas de alto riesgo(AU)

Introduction: Down syndrome is the result of the triplication of genetic material derived from chromosome 21. Approximately 94 percent of the cases originate from the absence of disjunction in the first meiosis. In recent years the technological development of high resolution ultrasonography and its use in the examination of fetal anatomy have allowed the description of multiple genetic markers of chromosomal abnormalities in the fetus, especially trisomy 21.Objective: to present a case that illustrates the usefulness of prenatal detection of echographic markers of Down syndrome.Case presentation: a patient aged 35 years and 20 weeks gestation whose fetus was detected in prenatal ultrasound, severe heart disease, a disease that affects 40-50 percent of fetuses with trisomy 21. Therefore, ultrasonographic search of other echographic markers of Down syndrome was carried out. According to the identified ultrasonographic findings and the diagnostic criteria, the couple received multidisciplinary advice at the Provincial Center of Medical Genetics, and decided on the elective interruption of the pregnancy. The anatomopathological examination of the fetus confirmed the presence of the findings identified in the prenatal ultrasound.Conclusions: although the cytogenetic study is considered the definitive method for the prenatal diagnosis of chromosomopathies, the high sensitivity of the ultrasound allows the detection of markers consistent with Down syndrome. This could be an alternative to avoid carrying out invasive procedures such as genetic amniocentesis or corial biopsy in pregnant women at high risk(AU)