A Case Report: Is the Lack of Sufficient Radial Force Unfreezing the “Frozen Elephant Trunk”?

The “frozen elephant trunk” is a hybrid technique to treat aortic arch and proximal descending aortic pathologies in a single step. Despite its encouraging early and long-term results, some stent-graft-related adverse events have been reported. Here, we describe a possible treatment option to "re-freeze" the FET in case of loss of landing zone. We report a patient who developed significant kinking of the FET over the course of the first 2 postoperative years. The 1-year follow-up computed tomography angiography (CTA) showed significant kinking and proximal migration of the endograft portion of the FET, resulting in new thrombus formation. Due to kinking and thrombus progression in subsequent CTA follow-ups (2 years and 2½ years) with risk for peripheral embolization, a secondary endovascular repair was indicated. Transfemoral relining of the stent component with a thoracic aortic endovascular repair (Zenith®TX2®30142) stent-graft was performed. In the context of postoperative aneurysm sac shrinkage, the low radial force and lack of longitudinal stiffness of the hybrid graft may lead to proximal migration, thus secondary kinking, emphasizing the importance of an adequate degree of oversizing of the primary graft and an appropriate follow-up. Selection of a suitable graft for a particular pathology concerning the radial force and longitudinal stiffness is furthermore important

Genetic Diagnostic Elucidation of a Patient With Multiorgan Granulomas, Facial Peculiarities, and Psychomotor Retardation

We report the case of a 19-years-old patient who presented with a perplexing variety of symptoms which included remarkable facial features, intellectual disability, granulomatous upper lip swelling (previously diagnosed as Melkersson–Rosenthal syndrome), Crohn’s-like disease, non-productive cough, and a granulomatous mass localized in the left lung. Chronic granulomatous disease (CGD) was diagnosed using dihydrorhodamine 123 assay that showed low levels of phagocytic NADPH-oxidase. DNA sequencing revealed a heterozygous mutation in the NCF-1 gene on chromosome 7. As remarkable facial features and psychomotor retardation are not associated with CGD, a more detailed genetic work-up using fluorescence in situ hybridization was performed. A microdeletion in 7q11.23 on one allele indicated Williams–Beuren syndrome (WBS). The NCF-1 gene and its two pseudogenes are part of a highly repetitive region within 7q11.23 and are prone to recombination events and deletions. Such deletions can involve both the WBS critical region and the NCF-1 wildtype gene, as was the case for our patient. The second allele of the NCF-1 gene was affected by the frequent c.75.76delGT mutation that stems from a recombination of the NCF-1 wildtype gene with one of its pseudogenes. In conclusion, patients with NCF-1-deficient CGD may also harbor microdeletions that result in WBS or other hereditary disorders; therefore, it is important to perform a thorough genetic analysis in order to initiate appropriate therapy for these patients