Resumo:
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.
