First antenatally confirmed case of arterial tortuosity syndrome.

Arterial tortuosity syndrome (ATS) is a rare, autosomal recessive, connective tissue disorder. It predominantly involves the arterial tree with clinical features reflecting the systems involved. There have been few cases of ATS suspected during antenatal screening ultrasound in high-risk families, but none confirmed. We present the first case of ATS confirmed antenatally in the fetus with cascade testing, detecting the disease in the mother as well.

Levoatriocardinal vein in D-transposition of the great arteries.

The levoatriocardinal vein is the embryological remnant of the connection between the pulmonary and systemic venous systems. It is a rare lesion that usually occurs in the presence of left-sided obstruction, developing as a pathway for decompression of the pulmonary veins. We report the first case of a levoatriocardinal vein in a patient with D-transposition of the great arteries.

Postnatal outcome in patients with fetal tachycardia.

The diagnosis and management of prenatal tachyarrhythmias is well established; however, the postnatal course and outcomes are not. The purpose of our study was to review the natural history of patients with fetal tachycardia, determine the incidence of postnatal arrhythmias, and determine whether there are factors to predict which fetuses will develop postnatal arrhythmias. A retrospective chart review of patients with fetal tachyarrhythmias investigated at British Columbia Children's and Women's Hospitals between 1983 and 2010 was conducted. Sixty-nine mother-fetus pairs were eligible for the study. Fifty-two had fetal supraventricular tachycardia, and 17 had fetal atrial flutter. Conversion to sinus rhythm occurred prenatally in 52 % of patients. Postnatal arrhythmia occurred in two thirds of patients, with 82 % of those cases occurring within the first 48 h of life. Hydrops fetalis, female sex, and lack of conversion to sinus rhythm was predictive of postnatal arrhythmia (P = 0.01, P = 0.01, and P = 0.001, respectively). Conversion to sinus rhythm prenatally did not predict postnatal arrhythmia. Median duration of treatment was 9 months. Two postnatal deaths of unknown etiology occurred. Two thirds of all patients with prenatal tachycardia will develop postnatal arrhythmia. Prenatal factors that predict postnatal arrhythmia include hydrops, sex, and whether or not conversion to sinus rhythm occurred prenatally. The majority of patients with postnatal arrhythmia present within 48 h of life, which has clinical implications for monitoring. Postnatal outcome is generally very good with most patients being weaned off medication in 6-12 months.

Left ventricular dysfunction in the immediate post-natal period.

Background: Our objective was to examine the clinical presentation, echocardiographic findings, and outcomes of newborns presenting with left ventricle (LV) dysfunction in the first 48 hours of life without perinatal asphyxia or structural heart disease. We hypothesize that LV dysfunction may occur due to maladaptation to extrauterine life. Methods: This is a retrospective cohort analysis including infants born in a quaternary perinatal centre. Late preterm and term neonates who were diagnosed with left ventricular dysfunction at less than 48 hours of life were identified using an echocardiography clinical laboratory's database and extracorporeal life support database. LV dysfunction was defined as m-mode fractional shortening (FS) <28% or ejection fraction (EF) <50% on echocardiography or reduced function reported by a cardiologist. Data extracted included patient & maternal demographics, echocardiogram parameters, clinical status, and medications. The primary outcome measure was time to recovery of LV function based on echocardiography. Results: Of the 69 patients identified, 19 patients were included in the final analysis. The mean gestational age was 38 weeks. Thirteen (68%) infants did not have an underlying cause identified despite extensive work-up. Four (21%) infants had exposure to maternal illicit drug use during pregnancy. Three infants died, and all infants without identifiable etiologies had recovery of LV function within 14 days of life. Conclusions: LV dysfunction can occur during the abrupt transition from fetal to neonatal circulation and can be associated with maternal illicit drug use.

Replicating Anatomical Teaching Specimens Using 3D Modeling Embedded Within a Multimodal e-Learning Course: Pre-Post Study Exploring the Impact on Medical Education During COVID-19.

BACKGROUND: The COVID-19 pandemic has had significant effects on anatomy education. During the pandemic, students have had no access to cadavers, which has been the principal method of learning anatomy. We created and tested a customized congenital heart disease e-learning course for medical students that contained interactive 3D models of anonymized pediatric congenital heart defects. OBJECTIVE: The aim of this study is to assess whether a multimodal e-learning course contributed to learning outcomes in a cohort of first-year undergraduate medical students studying congenital heart diseases. The secondary aim is to assess student attitudes and experiences associated with multimodal e-learning. METHODS: The pre-post study design involved 290 first-year undergraduate medical students. Recruitment was conducted by course instructors. Data were collected before and after using the course. The primary outcome was knowledge acquisition (test scores). The secondary outcomes included attitudes and experiences, time to complete the modules, and browser metadata. RESULTS: A total of 141 students were included in the final analysis. Students' knowledge significantly improved by an average of 44.6% (63/141) when using the course (SD 1.7%; Z=-10.287; P<.001). Most students (108/122, 88.3%) were highly motivated to learn with the course, and most (114/122, 93.5%) reported positive experiences with the course. There was a strong correlation between attitudes and experiences, which was statistically significant (rs=0.687; P<.001; n=122). No relationships were found between the change in test scores and attitudes (P=.70) or experiences (P=.47). Students most frequently completed the e-learning course with Chrome (109/141, 77.3%) and on Apple macOS (86/141, 61%) or Windows 10 (52/141, 36.9%). Most students (117/141, 83%) had devices with high-definition screens. Most students (83/141, 58.9%) completed the course in <3 hours. CONCLUSIONS: Multimodal e-learning could be a viable solution in improving learning outcomes and experiences for undergraduate medical students who do not have access to cadavers. Future research should focus on validating long-term learning outcomes.

Echocardiography-Derived Left Ventricular Outflow Tract Gradient and Left Ventricular Posterior Wall Thickening Are Associated with Outcomes for Anatomic Repair in Congenitally Corrected Transposition of the Great Arteries.

BACKGROUND: Congenitally corrected transposition of the great arteries is a rare form of congenital heart disease. Management is controversial; options include observation, physiologic repair, and anatomic repair. Assessment of morphologic left ventricle preparedness is key in timing anatomic repair. This study's purpose was to review the modalities used to assess the morphologic left ventricle preoperatively and to determine if any echocardiographic variables are associated with outcomes. METHODS: A retrospective review of patients with congenitally corrected transposition of the great arteries eligible for anatomic repair at Lucile Packard Children's Hospital from 2000 to 2016 was conducted. Inclusion criteria were (1) presurgical echocardiography, magnetic resonance imaging, and cardiac catheterization and (2) clinical follow-up information. Echocardiographic measurements included left ventricular (LV) single-plane Simpson's ejection fraction, LV eccentricity index, LV posterior wall thickening, pulmonary artery band (PAB)/LV outflow tract (LVOT) pressure gradient, and LV and right ventricular strain. Magnetic resonance imaging measurements included LV mass, ejection fraction, eccentricity index, and LV thickening. LV pressure, PAB/LVOT gradient, right ventricular pressure, pulmonary vascular resistance, and Qp/Qs constituted catheterization data. Outcomes included achieving anatomic repair within 1 year of assessment in patients with LVOT obstruction or within 1 year of pulmonary artery banding and freedom from death, transplantation, or heart failure at last follow-up. RESULTS: Forty-one patients met the inclusion criteria. PAB/LVOT gradients of 85.2 ± 23.4 versus 64.0 ± 32.1 mm Hg (P = .0282) by echocardiography and 60.1 ± 19.4 versus 35.9 ± 18.9 mm Hg (P = .0030) by catheterization were associated with achieving anatomic repair and freedom from death, transplantation, and heart failure. Echocardiographic LV posterior wall thickening of 35.4 ± 19.8% versus 20.6 ± 15.0% (P = .0017) and MRI LV septal wall thickening of 37.1 ± 18.8% versus 19.3 ± 18.8% (P = .0306) were associated with achieving anatomic repair. Inter- and intraobserver variability for echocardiographic measurements was very good. CONCLUSIONS: PAB/LVOT gradient and LV posterior wall thickening are highly reproducible echocardiographic measurements that reflect morphologic LV performance and can be used in assessing patients with congenitally corrected transposition of the great arteries undergoing anatomic repair.