Abstract Background Some syndromes have specific and easily recognizable features, while others may be more complex to identify and may present different phenotypic manifestations, for example. An etiological diagnosis is important to understand the nature of the disease, to establish the prognosis and to start the treatment, allowing the inclusion of patients in society and reducing the financial cost of such diseases. Objective The initial proposal of this study was cytogenetic screening for the detection of the 22q11.2 deletion syndrome […]

Introduction Anomalous origin of the left circumflex coronary artery (LCx) from the right pulmonary artery (PA) is an extremely rare coronary anomaly. Although the clinical course may be silent, the risk of sudden cardiac death is increased. The symptoms are related to collateralization and amount of myocardium that it supplies, and some patients need surgical treatment., […]

Abstract Background In 2015, the number of infants with congenital malformations (CMs) per 100 000 live births (LBs) was 2368 (7.6%) worldwide, of whom 10.6% died in the first year of life, 43% due to malformations of the circulatory system (MCSs), a scenario similar to what occurs in Brazil. Objective To assess, per Brazilian macroregion, whether diagnosis of MCS at birth and death due to MCS in the first year of life associate with human development index (HDI) and with […]

Complementary examinations Electrocardiogram showed sinus rhythm and no signs of cavitary overload. The QRS complex had RS morphology in V1, qRs in V6. AP: +50°, AQRS: +80°, AT: +40°. Chest X-ray showed normal cardiac area (cardiothoracic index: 0.46). The pulmonary vascular net was normal and the medial arch was rectified. […]