Rastreio de mutações do gene NKX2-5 em pacientes portadores de cardiopatia congênita associada à defeitos de morfogênese ou função tireoidiana

Abstract

NKX2-5 GENE MUTATION IN PATIENTS WITH CONGENITAL CARDIOPATHY ASSOCIATED WITH MORPHOGENESIS DEFECTS OR TIREOIDAL FUNCTION. Genetic and molecular studies suggest the essential involvement of the NKX2-5 transcription factor in the thyroid and cardiac embryonic development. Mutations in this gene have repercussions on cardiac organogenesis and, possibly, on the thyroid primordium, corroborating the major finding of association of congenital heart disease and Thyroid Dysgenesis. Objectives: Analyzing genetic alterations in the NKX2-5 gene in adult patients with congenital heart disease associated with morphological alterations and / or non autoimmune thyroid dysfunction. Methodology: Cohort analysis of patients with CC: a) Thyroid ultrasound; B) laboratory tests to evaluate thyroid function and presence of autoimmunity (ATPO and TSH). Determination of weight, height and Body Surface [SC(m 2 ) = weight(kg) 0,425x heigth(cm) 0,725 x 71,84 x 10-4 ]. Genetic evaluation: 5 ml of blood for extraction of genomic DNA; Polymerase Chain Reaction (PCR) and direct sequencing of the coding region of the NKX2.5 gene. Ethical aspects: This study is a subproject of "Gene mutation research implicated in thyroid and cardiovascular morphogenesis: a clinical and molecular study in cohorts of patients with thyroid dysgenesis and congenital heart disease" funded by FAPESB (grant term RED 0014/2012) and Approved by the Research Ethics Committee Dr. Celso Figuerôa and by the Research Committee of the Hospital Universitário Professor Edgard Santos.