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Objective: Vascular Ehlers-Danlos syndrome (vEDS) is a rare disorder and 1 of 13 types of EDS. The syndrome results in aortic and arterial aneurysms and dissections at a young age. Diagnosis is confirmed with molecular testing via skin biopsy or genetic testing for COL3A1 pathogenic variants. We describe a multi-institutional experience in the diagnosis of vEDS from 2000 to 2015. Methods: This is a multi-institutional cross-sectional retrospective study of individuals with vEDS. The institutions were recruited through the Vascular Low Frequency Disease Consortium. Individuals were identified using the International Classification of Diseases-9 and 10-CM codes for EDS (756.83 and Q79.6). A review of records was then performed to select individuals with vEDS. Data abstraction included demographics, family history, clinical features, major and minor diagnostic criteria, and molecular testing results. Individuals were classified into two cohorts and then compared: those with pathogenic COL3A1 variants and those diagnosed by clinical criteria alone without molecular confirmation. Results: Eleven institutions identified 173 individuals (35.3% male, 56.6% Caucasian) with vEDS. Of those, 11 (9.8%) had nonpathogenic alterations in COL3A1 and were excluded from the analysis. Among the remaining individuals, 86 (47.7% male, 68% Caucasian, 48.8% positive family history) had pathogenic COL3A1 variants and 76 (19.7% male, 19.7% Caucasian, 43.4% positive family history) were diagnosed by clinical criteria alone without molecular confirmation. Compared with the cohort with pathogenic COL3A1 variants, the clinical diagnosis only cohort had a higher number of females (80.3% vs 52.3%; P < .001), mitral valve prolapse (10.5% vs 1.2%; P ¼ .009), and joint hypermobility (68.4% vs 40.7%; P < .001). Additionally, they had a lower frequency of easy bruising (23.7% vs 64%; P < .001), thin translucent skin (17.1% vs 48.8%; P < .001), intestinal perforation (3.9% vs 16.3%; P ¼ .01), spontaneous pneumothorax/hemothorax (3.9% vs 14%, P.03), and arterial rupture (9.2% vs 17.4%; P ¼ .13). There were no differences in mortality or age of mortality between the two cohorts.

In patients with suspected genetically triggered vascular disease, the yield of clinical vascular genetic testing is reasonable when selective genetic testing is performed on the basis of personal or family history. These tests should be obtained with appropriate expertise in genetic counseling and interpretation of genetic testing results. Negative genetic test results in the setting of a positive family history demonstrate the limits of testing and known mutations leading to genetically triggered aortic and arterial aneurysms and dissections and support the need for novel gene discovery.

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Objectives:Determine the differences in presentation of intracanalicular and intralabyrinthine schwannomas.Study Design:Retrospective chart review at a single center.Setting:Tertiary academic referral center.Patients:Eighteen subjects with an intralabyrinthine schwannoma (ILS) and 216 patients with an intracanalicular vestibular schwannoma (VS).Main Outcome Measures:Variables collected included age at diagnosis, gender, presenting signs and symptoms, imaging findings, treatment modality, pure-tone average (PTA), and word recognition scores (WRS) at presentation and at follow-up visits.Results:Incidence of subjective hearing loss was 100% in the ILS group and 80.6% in the intracanalicular VS group. The degree of hearing loss was significantly worse in the ILS group (average PTA of 83.9 dB; average WRS of 46.9%) compared with the VS group (average PTA of 38.7 dB; average WRS of 71.8%) (PTA p = 0.000006; WRS p = 0.007). Other subjective signs and symptoms, including vestibular symptoms, did not differ significantly between the two groups. Approximately one-third of both groups underwent microsurgical resection. 22.2% of ILSs were missed on initial imaging by radiologists.Conclusion:Intralabyrinthine schwannomas differ from intracanalicular schwannomas in the severity of hearing loss at presentation. Otherwise, these two tumors present in a very similar fashion—age at presentation, presenting signs and symptoms—and are treated comparably. Otolaryngologists should maintain a high degree of suspicion for ILS in patients presenting with an asymmetric hearing loss, vertigo, and tinnitus.