Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto-Shinawi syndrome.

WAC-related intellectual disability, also known as DeSanto-Shinawi syndrome, is a rare autosomal dominant genetic disorder caused by pathogenic variants in WAC gene. This syndrome is characterized by developmental delay, intellectual disability, behavioral abnormalities, and dysmorphic facial features, including deep-set eyes, flat nasal bridge, bulbous nasal tip, and synophrys. Chromosomal deletions at 10p12p11 encompassing WAC gene have been described in patients with a similar phenotype, presenting with developmental delay, intellectual disability, visual impairments, abnormal behavior, and dysmorphic features. An important clinical difference between the two groups of patients, is that those with large deletions frequently present with congenital cardiac defects, which were rarely reported in patients with pathogenic variants in WAC. The genes underlying heart defects in patients with the deletion have not yet been fully clarified. Here, we describe two unrelated Portuguese patients with de novo pathogenic variants in WAC gene, previously unreported in the literature. Both patients present with microcephaly, developmental delay, intellectual disability, behavioral problems, and facial dysmorphisms. Interestingly, the youngest patient has a severe congenital cardiac malformation, showing that intragenic pathogenic WAC variants can also be associated with heart defects. Therefore, this report expands the phenotypic and genotypic spectrum of this rare syndrome and provides deeper insights by comparing the clinical features of our patients with previously reported cases.

Percutaneous patent ductus arteriosus closure: Twelve years of experience.

INTRODUCTION: Patent ductus arteriosus, a persistent communication between the descending thoracic aorta and the pulmonary artery, is one of the most common congenital heart defects. Transcatheter occlusion is an effective alternative to surgery and is currently standard of care for most patients. The authors present the results from a single center after twelve years of experience using this technique. METHODS: Retrospective analysis of medical records from all patients referred to a tertiary center for percutaneous ductus closure between January 2006 and September 2018. RESULTS: A total of 221 patients were referred, with a mean age of 5.5 years-old (16 patients were infants, with the youngest aged four months). A Nit-Occlud® coil was used 139 times (62.9%), an Amplatzer™ duct occluder 79 times (35.7%), and vascular plugs were used three times. Percutaneous closure was achieved in every treated patient, with 1.4% maintaining residual shunting. Although higher overall coil device implantation was noted, duct occluder usage has been greater since 2011. Of all the coils, 55% were either 4x4 or 5x4 mm, and 73% of all Amplatzer duct occluders were either 6x4 or 8x6 mm, which correlates to the majority of patients having a small to moderately sized ductus. No complications were noted during the procedure, with a 1.8% post-procedure complication rate (one device embolization after 48 hours and three cases of loss of arterial pulse). CONCLUSIONS: Percutaneous patent ductus arteriosus closure was safe and effective in this setting, with a low global complication rate and similar outcomes to most equivalent centers.

Coronary fistula to the right atrium: a challenge for the interventional cardiologist.

Congenital coronary fistulas are rare conditions, frequently diagnosed as an incidental finding when a patient is referred for cardiac surgery for another reason. Treatment can be conservative, surgical or more recently through transcatheter closure, depending on local experience and the morphology of the fistula. The authors present the case of a pediatric patient with a large coronary artery fistula from the aorta to the right atrium. Transcatheter closure with a 16 mm Amplatzer(®) vascular plug II and a 6 mm Amplatzer(®) duct occluder was performed, with complete occlusion.