BACKGROUND Kabuki syndrome (KS) is an entity of multiple congenital malformations with mental retardation with undetermined etiology. Congenital heart defects are one of the clinical manifestations of KS with insufficient elucidations. METHODS Literature of congenital heart defects associated with KS was comprehensively retrieved, collected and reviewed. The clinical features of the congenita...

OBJECTIVES To assess the proportion and pattern of extracardiac birth defects in children with congenital heart defects referred to a tertiary care institute. METHODS Cross-sectional observational study from January 2010 to June 2011. RESULTS Out of 560 children with congenital heart defects, 98 (17.5%) had extracardiac birth defects. Fifty-six had multiple congenital defects; 36 were syndr...

the majority of coronary artery fistulas (cafs) are congenital. the anomaly accounts for 0.4% of congenital heart defects and approximately 50% of pediatric coronary vasculature anomalies. twenty percent of people with congenital cafs have other concomitant cardiac anomalies, most frequently aortic and pulmonary atresia and patent ductus arteriosus. it is worthy of note that caf with the tetral...

Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital cardiac malformation. We report three cases of ALCAPA who survived to adulthood. The first case was a 51-year-old woman who complained of typical chest pain that was diagnosed with ALCAPA using cardiac catheterization and coronary computed tomographic angiography (CTA). The second case was a 30-...

congenital left ventricular diverticulum is a rare cardiac malformation. two categories of congenital ventricular diverticulum have been identified with regard to their localization: apical and non-apical. apical diverticula are always associated with midline thoraco-abdominal defects and other heart malformations. non-apical diverticula are always isolated defects. diagnosis is established by ...

In recent years, advances in transcatheter percutaneous closures for adults with congenital heart defects have paralleled technological improvements, including imaging, arrhythmia management, and percutaneous interventions. Indications for percutaneous closure of congenital heart defects have expanded with the widening range of device shapes and sizes. This review gives a brief outline of accom...

holt-oram syndrome is an autosomal dominant disorder, characterised by skeletal abnormalities of the upper limb associated with congenital heart defect, mainly atrial and ventricular septal defects. skeletal defects exclusively affect the upper limbs in the preaxial radial ray distribution and are bilateral and asymmetrical. they range from clinodactyly, absent or digitalised thumb, hypoplastic...

BACKGROUND Transforming growth factor-β receptor II (TGFBR2) is a key component of TGF-β signaling pathway. TGFBR2 can be detected in the generation of heart. The mouse embryos of TGFBR2 gene knockout exhibited congenital heart defects. METHODS We conducted a case-control study to investigate the association between TGFBR2 gene polymorphisms and congenital heart defects in Han Chinese populat...

Background Congenital heart disease (CHD) is the most common lethal congenital anomaly. Early diagnosis of CHD by fetal echocardiography based on maternal and fetal indications is important and lifesaving. The aim of study was to assess the referral aspects of pregnant women to pediatric cardiologist. Materials and Methods This was a retrospective cross-sectional study on 250 documents of refer...

OBJECTIVE To review the association between congenital heart defects and extracardiac malformations. DATA SOURCES Scientific articles were searched in the Medline, Lilacs, and SciELO databases, using the descriptors "congenital heart disease," "congenital heart defects," "congenital cardiac malformations," "extracardiac defects," and "extracardiac malformations." All case series that specific...