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 Adults with an atrial septal defect (ASD) frequently develop late atrial arrhythmias. We sought to characterize the pattern and persistence of atrial electrical remodeling caused by chronic right atrial (RA) stretch in this group. METHODS AND RESULTS Thirteen ASD patients without atrial arrhythmia (42+/-10 years old; RA volume, 65+/-16 mL) and 17 normal control subjects (44+/-11 ye...

Swiss-cheese atrial septal defect (ASD) is a malformation characterized by multi-fenestrated interatrial defects. Here, we describe vignette of 23-year-old man with Swiss-Cheese ASD two defects areas 0.74 cm2 and 0.44 cm2, complicated an aneurysm successfully repaired cribriform amplatzer occluder (ASO) via the percutaneous transcatheter approach. This case emphasizes importance attaining clear...

Patients with an atrial septal defect (ASD) have a left to right shunt with associated complications. Currently, various imaging modalities, including echocardiography and invasive cardiac catheterization, are utilized in the management of these patients. Cardiac magnetic resonance (CMR) imaging provides a novel and non-invasive approach for imaging patients with ASDs. A study of vortices gener...

We present the case of a patient who underwent a percutaneous secundum atrial septal defect (ASD II) closure with an undersized septal occluder device. One week and one month later she experienced two transient ischemic attacks. Three-dimensional transesophageal echocardiography (TEE) revealed a residual patent foramen ovale (PFO) with a positive Valsalva bubble test. She underwent a second pro...

We read with great interest the recently published case report by Alsaileek et al. in the European Journal of Echocardiography on laceration of atrial septum during balloon sizing. We had already reported about tear of atrial septum during balloon sizing of atrial septal defect (ASD) in a 20year-old female. Balloon sizing was attempted with Amplatzer sizing balloon (Amplatzer sizing Balloon, AG...

Analysis of large scale human genomic data has yielded unexplained mutations known to cause severe disease in healthy individuals. Here we report the unexpected recovery a rare dominant lethal mutation TPM1, sarcomeric actin-binding protein, 8 individuals with atrial septal defect (ASD) 5-generation pedigree. Mice TPM1 exhibited early embryonic lethality disrupted myofibril assembly and no hear...

A recent genome-wide association study (GWAS) has identified a new subset of susceptibility loci of Tetralogy of Fallot (TOF), one form of cyanotic congenital heart disease (CHD), on chromosomes 10p11, 10p14, 12q24, 13q31, 15q13 and 16q12 in Europeans. In the current study, we conducted a case-control study in a Chinese population including 1,010 CHD cases [atrial septal defect (ASD), ventricul...

Heterozygous mutations in the cardiac homeobox gene, NKX2-5, underlie familial cases of atrial septal defect (ASD) with severe atrioventricular conduction block. In this study, mice heterozygous for Nkx2-5-null alleles were assessed for analogous defects. Although ASD occurred only rarely, atrial septal dysmorphogenesis was evident as increased frequencies of patent foramen ovale and septal ane...