OBJECTIVE The splotch (Sp2h) mutation disrupts the Pax3 gene and is lethal in homozygotes. The aim of the present study was to investigate the cause of lethality. METHODS AND RESULTS Using the splotch (Sp2H) mouse mutant, we demonstrated that approximately 60% of Sp2H homozygotes die in utero at 13.5-14.5 days of gestation. All these embryos have cardiac malformations involving partial or com...

OBJECTIVE To report the uncommon association between neurofibromatosis type 1 (NF1) and unroofed coronary sinus. CASE DESCRIPTION Girl with four years and six months old who was hospitalized for heart surgery. The cardiac problem was discovered at four months of life. On physical examination, the patient presented several café-au-lait spots in the trunk and the limbs and freckling of the axil...

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...

Residual atrial septal defect (ASD) is a rare complication after percutaneous closure of an ostium secundum in eligible patients. Cardiac imaging, mainly transthoracic and transesophageal echocardiography essential to establish the diagnosis. Surgical therapeutic strategy choice. We present case 54-year-old woman who presented with residual left-to-right shunt four years ASD secundum.

Three dimensional models can be a valuable tool for surgeons as they develop surgical plans and medical fellows learn about complex cases. In particular, 3D play an important role in the field of cardiology, where congenital heart diseases occur. While many printers provide anatomically correct detailed models, existing printing materials fail to replicate myocardial tissue properties extremely...

BACKGROUND: It is known that 22q11.2 microdeletion is a submicroscopic chromosomal anomaly with cardiac and extra-cardiac manifestations. The prevalence and manifestations in north India have not been well characterized. OBJECTIVES: This study was designed to determine the prevalence of 22q11.2 microdeletion in congenital cardiac malformation cases referred for surgery from north India and to a...

This review contains material sourced from Med-Line and Pub-Med, search year 2002-2004. Material selected was pertaining to common cardiac ailments in pregnancy. Congenital cardiac problems i.e. Tetralogy of Fallot (TOF), Atrial Septal Defect (ASD), Ventricular Septal Defect (VSD), Eisenmengers syndrome, valvular heart disease, i.e. mitral stenosis, mitral regurgitation, aortic stensois and aor...

Thoracopagus is the most common form of conjoined twins. Cardiovascular evaluation is necessary to establish the existence of 2 separate hearts before planning surgical separation of the twins. This is usually done by cardiac ultrasound, cardiac catheterization, documenting 2 separate pulse rates on physical examination, and the presence of 2 independent QRS complexes on simultaneously recorded...

background: congenital heart disease (chd) is the most common congenital anomaly in newborns. this study was performed to determine the live birth incidence of chd by ethnicity and sex in gorgan, northern iran. methods: in this longitudinal, hospital-based study, 18162 live births in dezyani hospital in gorgan, north of iran, were screened for chd, from 2007 through 2009. clinical examination, ...

Inherited long QT syndrome is most frequently associated with mutations in KCNQ1, which encodes the primary subunit of a potassium channel. Patients with mutations in KCNQ1 may show only the cardiac defect (Romano-Ward syndrome or RWS) or may also have severe deafness (Jervell and Lange-Nielsen syndrome or JLNS). Targeted disruption of mouse Kcnq1 models JLNS in that mice are deaf and show abno...