BACKGROUND The 22q11.2 microdeletion syndrome (22q11.2 deletion syndrome -22q11.2DS) refers to congenital abnormalities, including primarily heart defects and facial dysmorphy, thymic hypoplasia, cleft palate and hypocalcaemia. Microdeletion within chromosomal region 22q11.2 constitutes the molecular basis of this syndrome. The 22q11.2 microdeletion syndrome occurs in 1/4000 births. The aim of ...

ease (RHD). Certain forms of congenital heart disease such as tetralogy of Fallot, small ventricular septal defect, and aortic stenosis are at particular risk for BE. Following BE, patients with ventricular septal defect and tetralogy of Fallot have less morbidity and higher survival rates than children with aortic outflow lesions. Over the entire time period, alpha Streptococcus is the most co...

OBJECTIVE To report the echocardiographic evaluation of 103 infants with presumed congenital Zika syndrome. METHODS An observational retrospective study was performed at Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Recife, Brazil. 103 infants with presumed congenital Zika syndrome. All infants had microcephaly and head computed tomography findings compatible with congenital ...

A 3-year-old Chinese boy was diagnosed with ipsilateral congenital malformations: right lung hypoplasia, dextroversion of heart, atrial septal defect, hepatic vein drainage directly into the right atrium, facial asymmetry, right microtia and congenital deafness, and indirect inguinal hernia. He underwent indirect inguinal hernia repair at the age of 2. Although without any facial plastic surger...

Background: Congenital hypothyroidism (CH) is a prevalent disorder, which is associated with several other congenital anomalies, especially cardiac diseases. The present study aimed to determine the prevalence of congenital heart disease (CHD) in the neonates with CH.Methods: This cross-sectional study was conducted on two groups of 79 subjects to compare the type and frequency of congenital ca...

Coronary artery anomalies include the anomalies of origin, termination, and structure or course. Coronary artery fistulas (CAFs) are classified as the anomalies of termination and are considered a major congenital anomaly and are in the subgroup of acyanotic heart disease.1 • Atrial septal defect • Ventricular septal defect • Patent ductus arteriosus • Aortic stenosis • Pulmonary stenosis • Par...

RATIONALE High take-off of the coronary arteries is a rare cardiac anatomic anomaly, which may occur independently or with other congenital heart defects. In the clinical setting, it is noteworthy as a cause of sudden cardiac death. Further, it is vital to identify such anomalies to avoid intraoperative catastrophes in surgeries for congenital heart defects. PATIENT CONCERNS A II/6 systolic h...

Congenital heart defects and skeletal malformation syndrome is very rare syndrome. Most of the patients had germline mutations in ABL1 gene. A 30-year-old gentleman presented with history congenital disease (ventricular septal defect) malformations which are typical CHDSKM. Patient also hemiplegia CHDSKMS. lactose intolerance since childhood. Patients were evaluated thoroughly to rule out other...

The incidence of major congenital defects is approximately 2.5% of total births. Congenital heart disease and neural tube defects each account for about onethird of all defects. From several studies in Europe and the United States it is estimated that the incidence of congenital heart disease is about seven cases per 1000 births (Lancet, 1975). As more than one cardiac lesion is sometimes prese...