Novel STAG1 Frameshift Mutation in a Patient Affected by a Syndromic Form of Neurodevelopmental Disorder.

The cohesin complex is a large evolutionary conserved functional unit which plays an essential role in DNA repair and replication, chromosome segregation and gene expression. It consists of four core proteins, SMC1A, SMC3, RAD21, and STAG1/2, and by proteins regulating the interaction between the complex and the chromosomes. Mutations in the genes coding for these proteins have been demonstrated to cause multisystem developmental disorders known as "cohesinopathies". The most frequent and well recognized among these distinctive clinical conditions are the Cornelia de Lange syndrome (CdLS, OMIM 122470) and Roberts syndrome (OMIM 268300). STAG1 belongs to the STAG subunit of the core cohesin complex, along with five other subunits. Pathogenic variants in STAG1 gene have recently been reported to cause an emerging syndromic form of neurodevelopmental disorder that is to date poorly characterized. Here, we describe a 5 year old female patient with neurodevelopmental delay, mild intellectual disability, dysmorphic features and congenital anomalies, in which next generation sequencing analysis allowed us to identify a novel pathogenic variation c.2769_2770del p.(Ile924Serfs*8) in STAG1 gene, which result to be de novo. The variant has never been reported before in medical literature and is absent in public databases. Thus, it is useful to expand the molecular spectrum of clinically relevant alterations of STAG1 and their phenotypic consequences.

Balloon angioplasty of aortic coarctation in critically ill newborns using axillary artery access.

Balloon angioplasty may be performed as the first treatment of aortic coarctation to stabilize newborns too sick for immediate surgery. The issue of vascular access is the key to the successful treatment of critical newborns. In our study, we argue that the lesser-known axillary access route is the safest and most effective route of vascular access for balloon angioplasty in infants with aortic coarctation. To support this argument, we present the case of eight unstable newborns with complex heart diseases, who were successfully treated with percutaneous intervention through the axillary artery. This case series is followed by an analysis of the greater efficacy of this technique compared to the more conventional femoral and carotid routes. We conclude by acknowledging the substantial advantages of this lesser-known vascular access and advocate its more widespread clinical implementation in the treatment of critical newborns.

Isolated persistence of the fifth aortic arch in an infant presenting with congestive heart failure.

The persistence of the fifth aortic arch (PFAA) in postnatal life is an extremely rare and controversial cardiovascular malformation. PFAA is defined as an extra-pericardial vessel arising from the ascending aorta proximal to the origin of the brachiocephalic arteries, terminating either in the dorsal aorta or in the pulmonary arteries through the persistently patent arterial duct. An isolated PFAA with systemic-to-pulmonary connection best fits this definition, while the vast majority of cases reported as PFAA may have alternative embryological explanations. We present a unique case of a 5-week-old patient with an isolated PFAA with systemic-to-pulmonary connection, who presented with congestive heart failure. A first differential diagnosis was made with distal aortopulmonary window and an atypical patent arterial duct. A careful analysis of the case and a systematic review of the literature made us conclude for an isolated PFAA, which is one of the only five cases ever reported.

Feasibility and safety of a new generation of gore septal occluder device in children.

AIM: Transcatheter closure of an ostium secundum atrial septal defect (ASD) is now considered the standard care for most of children with the appropriate anatomy, and is a relatively well-tolerated procedure to reduce the clinical sequelae of ASD, with a low complication rate. METHODS: The present case reports describe our clinical experience of the percutaneous closure of a secundum ASD in 10 children between December 2011 and November 2012, by means of a new generation of device, the GORE Septal Occluder device. RESULTS: The implantation was successful in all except two cases, the device being properly placed and deployed without malposition or embolization in the catheterization laboratory. No complications were related to the procedure. The successful implant was confirmed and no major adverse events were documented in the following 3-12 months. CONCLUSION: The new GORE Septal Occluder device appears to be a feasible, well-tolerated and successful tool for the closure of an ASD of 15 mm or less in childhood.

Double aneurysm of the left ventricular wall following cardiac perforation after aortic valvuloplasty.

In this report we present the case of a double aneurysm, which developed 1 week after pericardiocentesis because of cardiac perforation following aortic valvuloplasty in a newborn. The patient underwent successful surgical treatment through normothermic cardiopulmonary bypass with external plication of double aneurysm.

Percutaneous implantation of Edwards SAPIEN valve into pulmonary bioprosthesis (valve-in-valve).

We report the case of a 14-year-old boy affected by Tetralogy of Fallot and pulmonary atresia, who had already undergone multiple surgical procedures. He had later developed a steno-insufficiency of the pulmonary bioprosthesis. We performed a percutaneous pulmonary valve implantation (PPVI), which is a minimally invasive treatment, as effective as conventional valve surgery and associated with less morbidity and mortality. Up to now PPVI has been carried out in patients with chronic pulmonary vascular resistance (PVR) in the presence of a right ventricular outflow tract (RVOT) patch by prior deployment of an intravascular stent as an artificial conduit that makes subsequent valve implantation possible. The peculiarity of our procedure was that we implanted the valve directly on to the annulus of the bioprosthesis (valve-in-valve), without performing a prestenting of the prosthetic valve.