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.

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.

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.