BACKGROUND Mutations of the transcription factor Nkx2-5 cause pleiotropic heart defects with incomplete penetrance. This variability suggests that additional factors can affect or prevent the mutant phenotype. We assess here the role of genetic modifiers and their interactions. METHODS AND RESULTS Heterozygous Nkx2-5 knockout mice in the inbred strain background C57Bl/6 frequently have atrial...

Background—Mutations of the transcription factor Nkx2-5 cause pleiotropic heart defects with incomplete penetrance. This variability suggests that additional factors can affect or prevent the mutant phenotype. We assess here the role of genetic modifiers and their interactions. Methods and Results—Heterozygous Nkx2-5 knockout mice in the inbred strain background C57Bl/6 frequently have atrial a...

absence of the sternum or asterniais the rarest developmental anomaly of the stern um. a female newborn is presented with asternia and asd.

acute left atrial thrombosis at the site of the resection of the primary cribriform septum is an exceedingly rare and important complication after atrial septal defect (asd) closure with a pericardial or synthetic patch. this case report presents a mobile thrombus noted on the left atrium at the raw surface site of a resected cribriform primary septum that was not caught in the suture line with...

It is well known that there is a very high mortality in children with ventricular septal defect, who develop heart failure in early infancy (Marquis, 1950; Boesen and Vendel, 1955). Morgan, Griffiths, and Blumenthal (1960) reviewed 125 children up to 14 years of age with ventricular septal defect. Of these, 17 developed heart failure in the first six months of life, 10 dying before their first ...

OBJECTIVE The state of pulmonary vascular bed in congenital heart disease is the predictor of the patients clinical condition, prognosis and outcome of surgical intervention. This study aims to investigate the condition of pulmonary vascular bed analyzing pulmonary artery stiffness by means of Doppler echocardiography. METHODS Thirty-three patients (16 females, mean age 26+/-15 years) with va...

Rupture of the heart as a complication of myocardial infarction is one of the most common causes of in-hospital mortality. Rupture of the free wall of the ventricle or interventricular septum has a poor prognosis when treated conservatively. So, rupture of the heart after infarction requires prompt diagnosis and early surgical repair despite the high overall incidence of early operative mortali...

Common arterial trunk (persistent truncus arteriosus) is a rare, congenital heart anomaly and characterized by Ventricular Septal Defect (VSD), single truncal valve, common ventricular outflow tract. We reported case of arteriosus type 1 in the fetus 28 years-old G2-P1-L1 pregnant female at 24 weeks gestational age with large sub truncul VSD, overriding, main pulmonary artery bifurcation to rig...

We report the case of a patient with known Eisenmenger syndrome due to congenital ventricular septal defect, who developed pulmonary artery dissection. The patient was successfully treated with heart and lung transplantation.