Meike Rybczynski

BACKGROUND: Heterozygous pathogenic variants in the central region (exon 23–34) of FBN2 cause a hereditary connective tissue disorder named congenital contractural arachnodactyly, which presents with obligatory skeletal features but rarely with vascular manifestations. Scarce data exist on the association between FBN2 variants and aortic disease. This study aimed to investigate whether the location of FBN2 variants correlates with distinct clinical features, including aortic disease. METHODS: In this case-controlled cohort study, we ascertained clinical features, sequenced 62 (candidate) disease genes, and classified variants according to the American College of Medical Genetics and Genomics/Association for Molecular Pathology guidelines in 392 patients with suspected connective tissue or thoracic aortic diseases. We summarized our results and published data and compared clinical manifestations between patients with variants outside and within the central region of FBN2 . RESULTS: Heterozygous FBN2 variants outside the central region were identified in 10 patients from 5 families. Two variants were of uncertain significance, 1 was likely pathogenic, and 2 were pathogenic. A total of 60% of these patients had thoracic aortic disease, but only 20% were diagnosed with congenital contractural arachnodactyly according to an established clinical scoring system. Combined data from the literature and this study revealed that patients with FBN2 variants outside the central region presented with aortic dilatation (55.0% versus 9.9%; P P =0.011) compared with those with central region variants. CONCLUSIONS: Our results suggest that heterozygous FBN2 variants outside the central region predispose individuals to thoracic aortic disease and are less associated with the typical clinical presentation of congenital contractural arachnodactyly than pathogenic variants in the FBN2 central region.

Background: Postoperative physical recovery is a crucial outcome determinant in young patients undergoing aortic valve (AV) surgery. However, such functional parameters have not been well evaluated in patients with predominant aortic regurgitation, particularly with respect to different AV procedures. Thus, we aimed to compare exercise capacity after AV repair vs. replacement (AVR) in nonelderly adults during the first postoperative year. Method: Patients with isolated severe aortic regurgitation scheduled for AV surgery at our institution were prospectively included in our study from November 2018 to August 2020. Exercise capacity was evaluated upon admission, at 3 months and at 1 year postoperatively using the 6-minute walk test (6MWT) and cardiopulmonary exercise testing. Results: A total of 45 patients (mean age: 44 ± 14 years, 93% male) were prospectively included: 28 patients underwent AV repair and 17 patients underwent AVR. Comparison of baseline to 1-year follow-up exercise capacity parameters showed a significantly increased 6MWT distance (mean increase: AV repair: +61 m, p < 0.001; AVR: +31 m, p = 0.022) and maximal work rate (WR) (mean increase: AV repair: +38 W, p < 0.001; AVR: +20 W, p = 0.019) in both groups. Significant improvements in maximal oxygen uptake (VO₂max) were only seen after AV repair (mean increase: VO₂max: +0.3 L/min, p < 0.001; VO₂max/kg: +3.14 (mL/min)/kg, p = 0.001). Although AV repair patients already showed a significantly higher preoperative WR (186 ± 64 vs. 135 ± 66 W, p = 0.014) and VO₂max (2.17 ± 0.63 vs. 1.59 ± 0.74 L/min, p = 0.008) compared with the AVR cohort, these differences were even more pronounced at 1-year follow-up (WR: 214 ± 53 vs. 144 ± 68 W, p = 0.002; VO₂max: 2.36 ± 0.56 vs. 1.71 ± 0.60 L/min, p = 0.003), indicating better functional improvement after AV repair. 6MWT distance at 1-year follow-up was also significantly greater after AV repair (648 ± 75 vs. 555 ± 118 m, p = 0.025). Conclusion: Physical recovery in terms of significantly improved exercise capacity parameters was seen in AV repair as well as AVR patients during the first year after surgery for aortic regurgitation. However, significant improvements in VO2max and VO2max/kg were only found in the AV repair group. Most functional parameters were also significantly better at 1-year follow-up after AV repair versus AVR. Publication Date: 03 February 2022 (online) © 2022. Thieme. All rights reserved. Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, Germany

Background: Transthoracic echocardiography (TTE) is the standard procedure to distinguish tricuspid aortic valve (TAV) from bicuspid aortic valve (BAV). Published studies assessed the accuracy of TTE for BAV under ideal conditions. Conversely, we aimed at assessing accuracy of TTE for BAV under routine conditions. Methods: This retrospective, cross-sectional study of 216 adults included 132 men aged 62±14 years. Of these, 108 had BAV and 108 were age-matched individuals with TAV. All diagnoses were confirmed at surgery. We assessed TTE in two patient groups. First, in the (I) group of all 216 individuals, where we assessed accuracy for BAV according to the original diagnoses as documented by the primary investigators during original TTE examination. Second, we assessed accuracy for BAV according to expert re-evaluation in (II) all 158 TTE with availability of original recordings. Third, we performed a meta-analysis of published results on the accuracy of TTE for BAV according to PRISMA standards. Results: Sensitivity, specificity and accuracy of (I) primary investigators was 46.3%, 97.2, and 71.8% as compared to (II) expert re-evaluation with 59.7%, 93%, and 77.8%, respectively. Sensitivity was significantly higher at re-evaluation (PConclusions: The current study shows that TTE yields almost ideal diagnostic accuracy when ideal investigators examine ideal patients. However, the study also shows that TTE yields suboptimal diagnostic accuracy under routine conditions. TTE in non-tertiary care settings, concomitant aortic aneurysm, and presence of severe aortic valve calcification predict an inaccurate diagnosis of BAV.

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Objectives Mitral valve (MV) regurgitation is a common manifestation in patients with Marfan syndrome (MFS) and is age dependent. Valve pathology shares some features with myxomatous MV disease. Surgical treatment is still being debated and not well characterized in patients with MFS. Patients and Methods We retrospectively evaluated the results of mitral valve repair (MVR) of symptomatic patients with MFS who underwent surgery between January 2004 and April 2011. MFS was diagnosed following the Ghent criteria. MVR was performed in 12 patients. Three patients underwent minimally invasive MVR despite severe thorax deformities. Mean follow-up was 60.1 months (95% CI: 48–72) and was complete. Results Thirty-day mortality was 0%. One patient died because of arrhythmia 66 months after MVR. Transthoracic echocardiography at last visit showed mild mitral regurgitation in one patient (8.3%) and no mitral regurgitation in the remaining patients (91.7%). Conclusion MVR was associated with excellent survival and a low rate of complications. Transthoracic echocardiography showed good results of the repaired valves even years later. Minimally invasive repairs are feasible even in deformed thoraces, lowering the risk for future aortic surgery. Because of excellent mid-term to long-term results, MVR may also be justified in asymptomatic Marfan patients.