Elastin-driven genetic diseases are a group of complex diseases driven by elastin protein insufficiency and dominant-negative production of aberrant protein, including supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. Here, a Chinese boy with a novel nonsense mutation in the ELN gene is reported.
We report a 1-year-old boy who presented with exercise intolerance, weight growth restriction with age, a 1-year history of heart murmur, and inguinal hernia. Gene sequencing revealed a novel nonsense mutation in the ELN gene (c.757 C > T (p.Gln253Ter), NM_000501.4). Due to severe branch pulmonary artery stenosis, the reconstruction of the branch pulmonary artery with autologous pericardium was performed. The inguinal hernia repair was performed 3 months postoperatively. After six months of outpatient follow-up, the child recovered well, gained weight with age, and had no special clinical symptoms.
We identified a de novo nonsense mutation in the ELN gene leading to mild SVAS and severe branch pulmonary artery stenosis. A new phenotype of inguinal hernia was also needed to be considered for possible association with the ELN gene. Still, further confirmation will be necessary.

UNASSIGNED: Maintaining adequate branch pulmonary arterial growth is critical in preventing early (<3 years) right ventricular outflow tract reoperation after the repair of truncus arteriosus. We hypothesized that a modified truncus arteriosus repair keeping the branch pulmonary arteries in situ would promote branch pulmonary arterial growth and limit early right ventricular outflow tract reoperation.
UNASSIGNED: For infants requiring repair for type I and II truncus arteriosus, the truncal root was septated through a hockey stick incision keeping the branch pulmonary arteries in situ, the ventricular septal defect was closed, and a short aortic homograft was used to reconstruct the right ventricular outflow tract. Echocardiograms measured preoperative and follow-up branch pulmonary artery diameter.
UNASSIGNED: Between 1998 and 2020, 41 infants were repaired using the modified approach (type I, 28; type II, 13). With a median follow-up of 11.6 (interquartile range, 3.1-15.5) years, there was no significant change between preoperative left pulmonary artery and right pulmonary artery Z-scores and their corresponding follow-up measurement (left pulmonary artery: 0.97, interquartile range, 0.6-1.6 vs left pulmonary artery: 1.4, interquartile range, -0.3 to 1.9) (right pulmonary artery: 0.6, interquartile range, -0.4 to 1.7 vs right pulmonary artery: 0.3 interquartile range, 0.5-0.9). Only 7.3% (n = 2) of follow-up right pulmonary artery Z-scores were less than 2.5 Z-scores below preoperative measurements. Four children (9.8%) required early right ventricular outflow tract reoperation. On multivariable analysis, larger conduit Z-scores were associated with greater time to right ventricular outflow tract reoperation (hazard ratio, 0.55, confidence interval, 0.307-0.984; P = .043).
UNASSIGNED: Maintaining the branch pulmonary arteries in situ at initial truncus arteriosus repair allows for branch pulmonary arterial growth, limiting early right ventricular outflow tract reoperation.

Access to complex stenotic pulmonary arteries can be challenging due to their anatomy or secondary to prior multiple surgeries and interventions. Two techniques have been previously described to address this issue: the telescopic catheter-in-long sheath parallel to a stiff guidewire technique and the use of a microcatheter in a telescopic scope. We integrated and modified these techniques creating a super telescopic system with a SuperCross® microcatheter-in-catheter-in-long sheath, parallel to a contralateral stiff guidewire to access a previously repaired and stented left pulmonary artery. The stiff wire support and the 90° flexiblity of the Supercross® microcatheter assembled coaxial to the diagnostic catheter and the long sheath contributed to the successful ballooning and stenting-in-stent of the pulmonary artery.

Branch pulmonary artery stenosis (PAS) commonly occurs in congenital heart disease and the pressure gradient over a stenotic PA lesion is an important marker for re-intervention. Image based computational fluid dynamics (CFD) has shown promise for non-invasively estimating pressure gradients but one limitation of CFD is long simulation times. The goal of this study was to compare accelerated predictions of PAS pressure gradients from 3D CFD with instantaneous adaptive mesh refinement (AMR) versus a recently developed 0D distributed lumped parameter CFD model. Predictions were then experimentally validated using a swine PAS model (n = 13). 3D CFD simulations with AMR improved efficiency by 5 times compared to fixed grid CFD simulations. 0D simulations further improved efficiency by 6 times compared to the 3D simulations with AMR. Both 0D and 3D simulations underestimated the pressure gradients measured by catheterization (- 1.87 ± 4.20 and - 1.78 ± 3.70 mmHg respectively). This was partially due to simulations neglecting the effects of a catheter in the stenosis. There was good agreement between 0D and 3D simulations (ICC 0.88 [0.66-0.96]) but only moderate agreement between simulations and experimental measurements (0D ICC 0.60 [0.11-0.86] and 3D ICC 0.66 [0.21-0.88]). Uncertainty assessment indicates that this was likely due to limited medical imaging resolution causing uncertainty in the segmented stenosis diameter in addition to uncertainty in the outlet resistances. This study showed that 0D lumped parameter models and 3D CFD with instantaneous AMR both improve the efficiency of hemodynamic modeling, but uncertainty from medical imaging resolution will limit the accuracy of pressure gradient estimations.

Aneurysm and pseudoaneurysm development is a known, albeit uncommon, complication after right ventricular outflow tract surgical reconstruction. Large right ventricular outflow tract aneurysms and pseudoaneurysms have not been extensively described in recent literature and we report our experience with this unusual complication in five patients at our institution over the last 8 years. Although uncommon, this complication has potentially important clinical implications. Thus, clinicians should be aware of its potential, particularly in certain anatomic conditions.

Define outcomes of premounted stent implantation (PMS) for branch pulmonary artery stenosis (BPAS).
PMS for BPAS in children raises concern of long term viability, with limited maximal expansion.
We reviewed our cardiac database over an 11-year period ending in 2013. Primary endpoint was need for surgical stent intervention (SSI). Other endpoints included acute results and repeat interventions (RI).
82 PMS were implanted in 60 children for BPAS. Median weight was 6.3 (25th -75th 4.6-9.8) kg. Median stent diameter was 6 (range 4-9) mm. Acutely, vessel diameter improved from 2.0 (25th -75th 1.6-3.4) to 5.0 (25th -75th 4.2-5.9) mm (p < 0.001), pressure gradient decreased from 41 (25th -75th 29-50) to 11 (25th -75th 7-18) mmHg (n = 47, p < 0.001), RV:Ao pressure ratio decreased from 100% (25th -75th 85-110%) to 59% (25th -75th 49-74%) (n = 40, p < 0.001). Freedom from SSI was 81% at 1 year and 35% at 5 years. Freedom from RI was 50% at 1 year and 14% at 5 years. 86% of PMS underwent SSI during a concomitant planned cardiac surgery. 45% patients had stent redilation, improving stent diameter from 4.6 (25th -75th 4.1-5.4) to 5.7 (25th -75th 4.9-7) mm (p < 0.001). 1 stent (3%) was able to be fractured longitudinally.
PMS is an effective short term solution for BPAS in children. PMS is associated with expected early need for transcatheter reintervention to accommodate for growth, but also has high rates of SSI.

Patent ductus arteriosus (PDA) stenting has gained acceptance for palliation in cyanotic congenital heart disease. The PDA in tetralogy of Fallot with pulmonary atresia (ToF-PA) arises, in the left aortic arch, from underneath the arch and connects to the proximal left pulmonary artery, often resulting in stenosis. The PDA is usually elongated and tortuous, making stent implantation challenging. Shorter duration of palliation, aggravation of branch pulmonary artery stenosis resulting in poor growth and difficulty at surgery makes ductal stenting controversial. Access via the carotid and axillary artery reduces complexity of the procedure and improves success, with recent data demonstrating good pulmonary artery growth. Advances in bioresorbable stents offer future promise and will likely resolve some controversies surrounding PDA stenting in ToF-PA.

Stenting of patent ductus arteriosus (PDA) is an attractive alternative to the surgical aortopulmonary shunt in the palliation of cyanotic congenital heart disease. However, the diverse morphology of PDA in this setting limits its role, as stenting an overly tortuous duct may not be feasible, and in a significant number of patients, ductus-related pulmonary artery stenosis contraindicates this procedure. The major acute complications are stent migration, thrombosis, and cardiac failure. Early failure of palliation caused by in-stent stenosis is another limitation of this procedure.

OBJECTIVE: The pathophysiology of branch pulmonary artery (PA) stenosis after the arterial switch operation, most commonly on the left, is incompletely understood. This study examines factors associated with left PA (LPA) obstruction.
RESULTS: Cardiac magnetic resonance (CMR) imaging studies performed in patients after arterial switch operation (ASO) were retrospectively analysed. Blood flow was measured in both branch PAs and neo-pulmonary root position in relation to the aorta was expressed as an angle, relative to a line connecting the sternum and the spine. Sixty-six patients were included for analysis. Seventy per cent (n = 46) had balanced pulmonary blood flow, 28% (n = 18) had decreased flow to the left, and 2% (n = 2) had decreased flow to the right lung. LPA area indexed to body surface area (BSA) was smaller than RPA area (62 ± 37 vs. 120 ± 64 mm2/m2, P < 0.0001). Patients with reduced LPA flow were more likely to have required pulmonary arterioplasty at the time of ASO (17 vs. 2%, P = 0.04) and had a larger aortic root diameter (25 ± 7 vs. 22 ± 5 mm2/m2, P = 0.01). Greater rightward orientation of the neo-pulmonary root correlated inversely with LPA cross-sectional area (r = -0.39, P = 0.001) but not with LPA flow. Aortic root diameter correlated inversely with LPA flow (r = -0.43, P = 0.0004) but not with LPA cross-sectional area (P = 0.32). Patients with a rightward neo-pulmonary root and/or a dilated aortic root in the upper quartile range had a smaller LPA area (53 vs. 73 mm2/m2, P = 0.04) and less pulmonary blood flow (41 vs. 46%, P = 0.02) compared with patients without those risk factors.
CONCLUSIONS: Neo-pulmonary to neo-aortic geometry as well as post-operative compression of the LPA by an enlarged aorta impact LPA size and perfusion of the left lung.