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. A combination of fetal echocardiography, transthoracic echocardiography, as well as cross-sectional imaging was utilized in the diagnosis as well as management of each sibling. The third sibling was subsequently found to have a partial deletion in chromosome 15q13.3, which has been rarely associated with other forms of congenital heart disease.

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. OBJECTIVE: To define (1) how preprocedural septal measurements change after ASO and (2) the effect of somatic growth on these dimensions. METHODS: Data were collected retrospectively. Echocardiograms were reviewed and rims measured prior to ASO, immediately after ASO, and at follow-up. Demographic, procedural and device data were collected. RESULTS: Thirty-three patients were enrolled; mean age 5.2 ± 3.2 years with 4.0 ± 2.2 years follow-up. All septal measurements decreased after ASO. Thirty-one of 33 devices (94%) contacted the aortic root after ASO; all remained in contact at follow-up with only the IVC rim growing significantly over time. Change in BSA predicted an asymmetric septal growth with increases in superior (P = 0.01) and IVC (P = 0.005) rims and no increase in aortic or AVV rims. No episodes of erosion occurred. CONCLUSIONS: ASDs in young children are not central in the septum, but proximate to the aorta. After ASO, the device remains in close proximity to the aorta. With somatic growth, the septum grows asymmetrically, and device position relative to the aorta is constant. Our study was not powered to detect rare serious adverse events such as erosion, but aortic rims were consistently zero and yet no events occurred.

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, 15.8 ± 3.3 years) who provided 120 observations. We assessed intra-/inter-reader, intra-/inter-sonographer, sonographer-reader, and within subject agreement using Intraclass Correlation Coefficient (ICC) and Cohen's kappa (κ). Agreement was examined graphically using Bland-Altman plots. Although sonographers could estimate and measure peak TRJV in all subjects, readers designated tricuspid regurgitation nonquantifiable in 10-17% of their final interpretations. Intra-reader agreement was highest (ICC = 0.93 [95% CI 0.86, 0.97], P = 0.0001) and within subject agreement lowest (ICC = 0.36 [95% CI 0.02, 0.64], P = 0.021) for single TRJV measurements. Similarly, intra-reader agreement was highest (κ = 0.74 [95% CI 0.53, 0.95], P = 0.0001) and within subject lowest (κ = 0.14 [95% CI -0.17, 0.46], P = 0.38) when sonographers and readers categorized TRJV measurements. On Bland-Altman plots, absolute differences in observations increased with higher mean TRJV readings for intra-/inter-reader agreement. Peak TRJV measurements in individual children and young adults with SCD are affected by several sources of disagreement, underscoring the need for methodological improvements that ensure reproducibility of this screening modality for making clinical decisions in this population.