RESUMEN
Although several genes underlying occurrence of transposition of the great arteries have been found in the mouse, human genetics of the most frequent cyanotic congenital heart defect diagnosed in neonates is still largely unknown. Development of the outflow tract is a complex process which involves the major genes of cardiac development, acting on myocardial cells from the anterior second heart field, and on mesenchymal cells from endocardial cushions. These genes, coding for transcription factors, interact with each other, and their differential expression conditions the severity of the phenotype. A precise description of the anatomic phenotypes is mandatory to achieve a better comprehension of the complex mechanisms responsible for transposition of the great arteries.
Asunto(s)
Transposición de los Grandes Vasos , Humanos , Transposición de los Grandes Vasos/genética , Transposición de los Grandes Vasos/patología , Animales , Fenotipo , Factores de Transcripción/genética , Factores de Transcripción/metabolismo , Regulación del Desarrollo de la Expresión GénicaRESUMEN
During normal cardiovascular development, the outflow tract becomes septated and rotates so that the separate aorta and pulmonary trunk are correctly aligned with the left and right ventricles, respectively. However, when this process goes wrong, the aorta and pulmonary trunk are incorrectly positioned, resulting in oxygenated blood being directly returned to the lungs, with deoxygenated blood being delivered to the systemic circulation. This is termed transposition of the great arteries (TGA). The precise etiology of TGA is not known, but the use of animal models has elucidated that genes involved in determination of the left- embryonic body axis play key roles. Other factors such as retinoic acid levels are also crucial. This chapter reviews the animal models presenting with TGA that have been generated by genetic manipulation or with exogenous agents.
Asunto(s)
Modelos Animales de Enfermedad , Transposición de los Grandes Vasos , Animales , Transposición de los Grandes Vasos/genética , Humanos , Ratones , Transducción de Señal , Tretinoina/metabolismo , Tretinoina/farmacologíaRESUMEN
Este é um relato de caso com discussão dos desfechos materno-fetais de gestantes com transposição de grandes vasos congenitamente corrigida (TGVCC). Gestante com transposição de grandes artérias congenitamente corrigida TGACC, internada com 35 semanas de gestação por dispneia e cianose central, evoluindo para parto vaginal com fórcipe e recebendo alta com recém-nascido clinicamente estável. A mesma paciente é internada novamente após 1 ano, gestante e com as mesmas queixas, apresentando dor precordial no trabalho de parto. Foi indicada cesárea por desproporção cefalopélvica. Teve alta clinicamente estável. Os recém-nascidos não apresentaram malformações cardíacas. Em conclusão, gestantes portadoras de TGACC devem receber atenção multidisciplinar diferenciada devido à gestação de alto risco, tendo indicação de parto normal assistido e monitorado, visando diminuir a morbimortalidade materna.
Case report and discussion of maternal-fetal outcomes in pregnant patients with congenitally corrected transposition of the great vessels (CCTGV). A pregnant woman with CCTGV was hospitalized at 35 weeks of gestation for dyspnea and central cyanosis. Her baby was born via forceps delivery and was clinically stable when discharged from hospital. The patient returned to the hospital 1 year later. She was pregnant and presented the same complaints, with precordial pain during labor. Cesarean delivery was indicated due to dystocia. She was clinically stable when discharged from hospital. Both newborns did not have cardiac malformations. Pregnant patients suffering from CCTGV should receive multidisciplinary attention due to the high-risk pregnancy, with recommendation of assisted and monitored vaginal labor to reduce maternal morbidity and mortality.