Further Evidence for RFWD3 Gene Causing Fanconi Anemia Complementation Group W: Detailed Clinical Report of the Second Case in the Literature.

Introduction: Fanconi anemia (FA) is a heterogeneous genetic disorder that is characterized by progressive bone marrow failure, congenital malformations, predisposition to malignancy, and short stature. The RFWD3 gene was recently associated with FA complementation group W, and only 1 patient is reported in the literature so far. Case Presentation: Here, we report the second patient, a 10-year-old male, who has failure to thrive, central nervous system abnormalities, bilateral radial ray defects, urogenital anomalies, facial dysmorphism, and thrombocytopenia. The patient was suspected to have FA according to the aforementioned findings, and the homozygous c.1501C>T variant in the RFWD3 gene was detected by whole-exome sequencing. The diepoxybutane test and mitomycin C-induced peripheral blood cultures revealed 0.46 and 0.90 chromosomal breaks, respectively. Conclusion: In this article, clinical findings of the second patient with FA complementation group W are discussed in detail, aiming to expand the clinical and molecular spectrums of the disease.

Safety and efficacy of Amplatzer duct occluder II and konar-MF™ VSD occluder in the closure of perimembranous ventricular septal defects in children weighing less than 10†kg.

Introduction: Device closure of perimembranous ventricular septal defects (pmVSD) is a successful off-label treatment alternative. We aim to report and compare the outcomes of pmVSD closure in children weighing less than 10 kg using Amplatzer Duct Occluder II (ADOII) and Konar-MF VSD Occluder (MFO) devices. Methods: Retrospective clinical data review of 52 children with hemodynamically significant pmVSD, and sent for transcatheter closure using ADOII and MFO, between January 2018 and January 2023. Baseline, procedural, and follow-up data were compared according to the implanted device. Results: ADOII devices were implanted in 22 children with a median age of 11 months (IQR, 4.1-14.7) and weight of 7.4 kg (IQR, 2.7-9.7). MFO devices were implanted in 30 children with a median age of 11 months (IQR, 4.8-16.6) and weight of 8 kg (IQR, 4.1-9.6). ADOII were implanted (retrograde, 68.1%) in defects with a median left ventricular diameter of 4.6 mm (IQR, 3.8-5.7) and right ventricular diameter of 3.5 mm (IQR, 3.1-4.9) while MFO were implanted (antegrade, 63.3%) in defects with a median left ventricular diameter of 7 mm (IQR, 5.2-11.3) (p > 0.05) and right ventricular diameter of 5 mm (IQR, 2.0, 3.5-6.2) (p < 0.05). The procedural and fluoroscopy times were shorter with the MFO device (p < 0.05). On a median follow-up of 41.2 months (IQR, 19.7-49.3), valvular insufficiency was not observed. One 13-month-old child (6.3 kg) with ADOII developed a complete atrioventricular heart block (CAVB) six months postoperative and required pacemaker implantation. One 11-month-old child (5.9 kg) with MFO developed a CAVB 3 days postoperative and the device was removed. At 6 months post-procedure, only one child with MFO still experiences a minor residual shunt. There was one arterio-venous fistula that resolved spontaneously. Conclusion: Both the MFO and ADOII are effective closure devices in appropriately selected pmVSDs. CAVB can occur with both devices. The MFO is inherently advantageous for defects larger than 6 mm and subaortic rims smaller than 3 mm. In the literature, our series represents the first study comparing the mid-term outcomes of MFO and ADOII devices in children weighing less than 10 kg.