A bimonthly publication part of the Brazilian Society of Cardiology portfolio of journals connected with ABC Cardiol publishing national and international scientific production in the field of cardiovascular sciences.
ISSN 2359-4802
eISSN 2359-5647
Marlene Viviane Pires Fernandes Santos, Bruno Faulin Gamba, Stefany Lucas Lopes Empke, Camila Cristina de Oliveira Alves, Nádia Aparecida Bérgamo, [...]
Marlene Viviane Pires Fernandes Santos, Bruno Faulin Gamba, Stefany Lucas Lopes Empke, Camila Cristina de Oliveira Alves, Nádia Aparecida Bérgamo, [...]
Congenital heart defects are the most common birth defects and the leading cause of mortality in the first year of life. It is well known that the 22q11 deletion syndrome (22q11DS) is the most common microdeletion syndrome in humans and that congenial heart diseases (CHDs) are one of the most common phenotypic manifestations. However, it should be noted that the 22q11 deletion was also found in a significant number of patients with isolated CHD. The 22q11DS phenotype may include cardiovascular […]
Keywords: Congenital Heart Disease/genetics; Face/abnormalities/ genetics; DiGeorge Syndrome/genetics; Chromosomes, Human, Pair 22/genetics; Chromosome Deletion