Prenatally Diagnosed Interventricular Septal Aneurysm with Associated Ventricular Dysfunction.

Congenital interventricular septal aneurysms (IVSA) of the muscular septum are rare and can be associated with other familial abnormalities of the ventricular septum, arrhythmias, additional congenital heart disease, and chromosomal abnormalities. IVSA is also linked to ventricular dysfunction and non-compaction, although there are limited reports of this association presenting in utero. We describe a case of fetal ventricular septal aneurysm associated with ventricular dysfunction and pericardial effusion.

Total anomalous pulmonary venous connection (TAPVC): A familial cluster of 3 siblings.

Total anomalous pulmonary venous connection (TAPVC) is a rare form of cyanotic congenital heart disease (CHD) that occurs when the pulmonary veins drain into a site other than the morphologic left atrium. As with other forms of CHD, TAPVC has been shown to cluster in families and is known to have genetic association. We report on a case series of familial TAPVC in three consecutive siblings.

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by heterozygous point mutations or genomic deletion copy-number variants (CNVs) of FOXF1 or its upstream enhancer involving fetal lung-expressed long noncoding RNA genes LINC01081 and LINC01082. Using custom-designed array comparative genomic hybridization, Sanger sequencing, whole exome sequencing (WES), and bioinformatic analyses, we studied 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. We describe novel deletion CNVs at the FOXF1 locus in 13 unrelated ACDMPV patients.

Growth of the atrial septum after Amplatzer device closure of atrial septal defects in young children.

Background: Trans-catheter closure of atrial septal defects (ASD) with the Amplatzer Septal Occluder (ASO) device is safe and effective, but concern over erosions has increased. Devices are placed in growing children but septal growth after ASOs is ill-defined. Understanding the device relationship to cardiac structures as a child grows may help us understand erosions.

Reproducibility of tricuspid regurgitant jet velocity measurements in children and young adults with sickle cell disease undergoing screening for pulmonary hypertension.

The reproducibility of tricuspid regurgitant jet velocity (TRJV) measurements by Doppler echocardiography has not been subjected to systematic evaluation among individuals with sickle cell disease (SCD) undergoing screening for pulmonary hypertension. We examined sources of disagreement associated with peak TRJV in children and young adults with SCD. Peak TRJV was independently measured and interpreted a week apart by separate sonographers and readers, respectively, in 30 subjects (mean age, 15.