Familial visceral branch artery aneurysms in Loeys-Dietz syndrome.

Loeys-Dietz syndrome (LDS) is an autosomal dominant heritable disorder due to pathogenic variants in one of several genes involved in TGF-ß (transforming growth factor-beta) signalling. LDS is associated with aortic aneurysm and dissection. LDS may also lead to extra-aortic aneurysms, the majority of which occur in the head and neck vasculature. Visceral aneurysms are uncommon, and no cases of distal superior mesenteric artery (SMA) branch aneurysms in patients with LDS have been reported. Three related females with TGFBR1-related LDS developed distal SMA branch artery aneurysms involving the ileocolic and jejunal arteries. Endovascular or surgical intervention was performed in each. The presence and severity of arterial, craniofacial, and cutaneous features of LDS in these patients are variable. TGFBR1-related LDS may rarely lead to SMA branch artery aneurysms that can develop later in life. Surgical and endovascular procedures can successfully treat these aneurysms, but data to guide size thresholds and optimal treatment strategies are lacking.

Prioritization of industry level interventions to improve implementation of design for safety regulations.

INTRODUCTION: Many countries introduced mandatory Design for Safety (DfS) or Prevention through Design (PtD) requirements to reduce construction accident rates. However, there is a knowledge gap on the relative importance of industry level interventions to improve the implementation of DfS regulations. Thus, this study aims to identify and prioritize a set of industry level interventions to help regulators and industry associations understand the industry's perceptions and improve the implementation of mandatory DfS. METHOD: A mixed method approach consisting of 59 semi-structured interviews, four focus group discussions, and an online poll was implemented. RESULTS: Key challenges faced during DfS implementations were identified (lack of guidelines, lack of commitment towards DfS, the inadequate capability of DfS team, and limited effectiveness of DfS Professionals (DfSPs)). The study elicited eight industry level interventions to overcome these challenges and ranked them based on effectiveness and ease of implementation. The ranked industry level interventions in descending order are continuing training for DfSPs, samples and guidelines, DfS training for non-DfSPs, Building Information Modelling (BIM) for DfS review, strengthening DfSP as a profession, DfS awards for developers, third party audits for DfS reviews, and submission of DfS Risk Register to regulator. CONCLUSIONS: Identified interventions were classified into four intervention categories: (a) improving competency/ knowledge; (b) technological tools; (c) checks/ audits; and (d) recognitions/ certifications. The key contributions of this study are the identification and prioritization of industry level interventions for DfS, and the classification of safety interventions available to industry associations and regulators. PRACTICAL APPLICATIONS: Findings from this study help regulators and industry associations prioritize their resources to improve the implementation of mandatory DfS. Moreover, regulators and industry associations can also use the generic framework of industry level interventions to identify possible interventions to improve other mandatory WSH processes.

Late complication rates after aortic coarctation repair in patients with or without a bicuspid aortic valve.

OBJECTIVE: Patients with previously repaired aortic coarctation (CoA) are at risk of developing late surgical complications. Many patients with CoA also have a bicuspid aortic valve (BAV). We sought to determine in patients with repaired CoA whether the presence of BAV is associated with more cardiovascular reinterventions during follow-up. METHODS: Adults with previously repaired simple CoA were recruited from our Adult Congenital Heart Disease database (Sydney, Australia). The incidence of complications relating to the 'CoA-site' (descending aortic aneurysm or dissection, or recoarctation) and the 'AV/AscAo' (aortic valve or ascending aortic pathology) that required intervention was compared between those with BAV ('CoA-BAV') and without BAV ('CoA-only'). RESULTS: Of 146 patients with repaired CoA, 101 (69%) had BAV. Age at CoA repair was similar (median 6.0 (IQR 0.5-14.0) years vs 5.0 (IQR 0.5-11.0) years, p=0.44), as was the distribution of repair types, with end-to-end repair the most common in both groups (45.9% vs 45.6%). At a median of 28 years following initial repair, a significantly higher proportion of patients with CoA-BAV required cardiovascular reintervention (45.5% vs 20.0%, p=0.003). Whereas 'CoA-site' complications were more common than 'AV/AscAo' complications in patients with CoA only (13.3% and 0%, respectively), patients with CoA-BAV had a high prevalence of both 'CoA-site' as well as 'AV/AscAo' complications (19.8% and 21.8%, respectively). Overall survival was similar (p=0.42). CONCLUSION: In adults with repaired CoA, patients with CoA-BAV are more than twice as likely to require cardiovascular reintervention by early-to-mid-adult life compared with those with CoA alone. Despite this, no difference in survival outcomes was observed.

Characteristics of Bicuspid Aortic Valve Disease and Stenosis: The National Echo Database of Australia.

Background Bicuspid aortic valve (BAV) is the most common congenital heart disease in adults but is clinically heterogeneous. We aimed to describe the echocardiographic characteristics of BAV and compare patients with BAV with moderate-to-severe aortic stenosis (AS) with those with tricuspid aortic valve (TAV) stenosis. Methods and Results Using the National Echo Database of Australia, patients in whom BAV was identified were studied. Those with moderate-to-severe AS (mean gradient >20 mm Hg [BAV-AS]) were compared with those with TAV and moderate-to-severe AS (TAV-AS). Of 264 159 adults whose aortic valve morphology was specified, 4783 (1.8%) had confirmed BAV (aged 49.6±17.4 years, 69% men). Of these, 42% had no AS, and 46% had no aortic regurgitation. Moderate-to-severe AS was detected in a greater proportion of patients with BAV with a recorded mean gradient (n=1112, 34%) compared with those with TAV (n=4377, 4%; P<0.001). Patients with BAV-AS were younger (aged 55.3±16.7 years versus 77.3±11.0 years; P<0.001), and where measured had larger ascending aortic diameters (37±8 mm versus 35±5 mm; P<0.001). Age and sex-adjusted mortality risk was significantly lower in patients with BAV-AS (hazard ratio, 0.53; 95% CI, 0.45-0.63; P<0.001). Conclusions In this large study of patients across the spectrum of BAV disease, the largest proportion had no significant valvulopathy or aortopathy. Compared with those with TAV-AS, patients with BAV were more likely to have moderate-to-severe AS, have larger ascending aortas, and were over 2 decades younger at the time of AS diagnosis. Despite this, patients with BAV appear to have a more favorable prognosis when AS develops, compared with those with TAV-AS. Registration URL: www.anzctr.org.au/; Unique identifier: ACTRN12617001387314.

Bicuspid aortic valve disease - the influence of valve morphotype on age at and types of surgical treatment.

BACKGROUND: Patients with bicuspid aortic valve (BAV) with zero or two raphes have been under-represented in previous studies. Whether these patients have unique clinical courses remains unclear. We describe the indications for and types of surgery in patients with BAV, and describe differences between valve morphotypes. METHODS: Adults who had undergone aortic and/or aortic valve surgery for BAV disease at our centres were identified and classified according to the Sievers definitions. RESULTS: 317 patients were included (74.4% male, median age at surgery 62 years). Of these, 187 (59.0%) had aortic valve surgery, 7 (2.2%) aortic surgery, 120 (37.9%) combined valve and aortic surgery and 3 had a Ross procedure. Most patients had aortic stenosis (71.9%), followed by aortic regurgitation (16.7%). 30-day mortality was low (1.6%).The commonest valve morphology was type-1 (one raphe) in 89.6%; type-0 (no raphes) occurred in 7.9% and type-2 (two raphes) in 2.5%. Patients with type-2 valves were substantially younger at time of surgery than type-1 patients (median 36 vs 63 years, p = 0.008). A higher proportion of patients with type-0 valves required aortic surgery than those with type-1 (68.0% vs 37.3%, p = 0.007). There were no differences between groups for the indication for surgery, valvular abnormality or 30-day mortality. CONCLUSIONS: The number of BAV raphes was independently and significantly associated with age at surgery and the need for aortic intervention. Patients with type 0 and type 2 valves are a small but important proportion of the BAV population, potentially requiring different clinical surveillance and management.

Bicuspid aortic valve: different clinical profiles for subjects with versus without repaired aortic coarctation.

OBJECTIVES: A small proportion of patients undergoing bicuspid aortic valve (BAV) intervention have had prior repair of aortic coarctation (CoA). We aimed to describe phenotypic differences between BAV patients, comparing those with versus those without previous coarctation repair. METHODS: 556 adults with BAV who had undergone aortic valve and/or ascending aortic surgery were identified, and relevant clinical and operative details were retrospectively analysed. RESULTS: Of the total cohort, 532 patients (95.7%) had isolated BAV ('BAV-only'), and 24 (4.3%) had had a previous successful CoA repair ('BAV-CoA'). The median age at surgery was significantly lower in BAV-CoA patients compared with BAV-only (median, IQR: 40 years, 26-57 vs 62 years, 51-69, p<0.001). Indications for surgery also differed, with BAV-CoA patients much more likely to undergo surgery for aortic regurgitation (BAV-CoA 38% vs BAV-only 13%, p<0.001); patients with isolated BAV were more likely to require surgery for aortic stenosis (BAV-only 75% vs BAV-CoA 50%, p<0.001). Two different BAV morphotypes were commoner in the BAV-CoA group; type 0 valves (24% vs 8%, p<0.05) and type 2 valves (12% vs 3%, p<0.05). The proportion of patients undergoing concomitant aortic surgery at the time of valve surgery were similar (BAV-only 38% vs BAV-CoA 42%, p=0.8). CONCLUSION: In adult patients undergoing aortic valve surgery for BAV disease, those with a prior history of repaired CoA underwent surgery at a very much younger age, and a higher proportion required intervention for aortic regurgitation.