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.

Transcatheter closure of patent ductus arteriosus (PDA) is now the standard of care with some exceptions. Best treatment for peripheral pulmonary artery (PA) stenosis in small children is still debatable. Surgical augmentation, balloon dilatation, and stenting are the available options with each having its own risks and limitations. Here, we are reporting complete transcatheter management of three cases of congenital rubella syndrome who had PDA and left branch PA stenosis by device closure and stent placement, with successful outcome in two cases and complication, leading to surgery in one. We also share our understanding of case selection for a better outcome.

UNASSIGNED: Coronavirus disease 2019 (COVID-19) continues to be a pandemic worldwide. Lung transplantation is the last option to increase life expectancy of end-stage COVID-19 patients. Branch pulmonary artery stenosis (PAS) is a rare complication after lung transplantation with an extremely poor prognosis. The current trend in the management of branch PAS is percutaneous balloon angioplasty and/or stent implantation, rather than high-risk reoperation with a lower success rate.
UNASSIGNED: The subject was a 54-year-old male with severe acute respiratory syndrome coronavirus 2 infection who underwent a double-lung transplantation. He suffered hypoxaemia and right heart dysfunction following the operation. Right cardiac catheterization and pulmonary angiography examination revealed severe stenosis of the right branch pulmonary artery. Due to immunosuppression and reduced coagulation function, the patient underwent pulmonary artery balloon dilatation and stent implantation, and ultimately recovered well.
UNASSIGNED: The combination of balloon dilatation and stent implantation is a good alternative to reoperation for patients with COVID-19.

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.

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.