Thoracic aortic aneurysms and dissections (TAAD) are silent but possibly lethal condition with up to 40 % of cases being hereditary. Genetic background is heterogeneous. Recently next-generation sequencing enabled efficient and cost-effective examination of gene panels. Aim of the study was to define the diagnostic yield of NGS in the 51 TAAD patients and to look for genotype–phenotype correlations within families of the patients with TAAD. 51 unrelated TAAD patients were examined by either whole exome sequencing or TruSight One sequencing panel. We analyzed rare variants in 10 established thoracic aortic aneurysms-associated genes. Whenever possible, we looked for co-segregation in the families. Kaplan–Meier survival curve was constructed to compare the event-free survival depending on genotype. Aortic events were defined as acute aortic dissection or first planned aortic surgery. In 21 TAAD patients we found 22 rare variants, 6 (27.3 %) of these were previously reported, and 16 (73.7 %) were novel. Based on segregation data, functional analysis and software estimations we assumed that three of novel variants were causative, nine likely causative. Remaining four were classified as of unknown significance (2) and likely benign (2). In all, 9 (17.6 %) of 51 probands had a positive result when considering variants classified as causative only and 18 (35.3 %) if likely causative were also included. Genotype-positive probands (n = 18) showed shorter mean event free survival (41 years, CI 35–46) than reference group, i.e. those (n = 29) without any plausible variant identified (51 years, CI 45–57, p = 0.0083). This effect was also found when the 'genotype-positive' group was restricted to probands with 'likely causative' variants (p = 0.0092) which further supports pathogenicity of these variants. The mean event free survival was particularly low (37 years, CI 27–47) among the probands with defects in the TGF beta signaling (p = 0.0033 vs. the reference group). This study broadens the spectrum of genetic background of thoracic aneurysms and dissections and supports its potential role as a prognostic factor in the patients with the disease.
Whilst echocardiography is currently the 'gold standard' for the diagnosis of infective endocarditis (IE), it has certain limitations and alternative imaging methods are being sought. The study aim was assess the usefulness of cardiac magnetic resonance (CMR) imaging when diagnosing IE.Twenty consecutive patients with diagnosed IE were included in the study. All patients underwent CMR and transthoracic echocardiography, and 16 (80%) underwent also transesophageal echocardiography.CMR revealed vegetations in 15 patients (75%). Following echocardiography, vegetations were identified in 19 patients (95%) and valve perforation was suspected in seven (35%); vegetations were identified by CMR in six (30%) of these patients. Echocardiography identified two patients suspected of perivalvular abscess; in one patient the abscess was diagnosed also by CMR and intraoperatively, but in the second patient neither CMR nor intraoperative examination confirmed this diagnosis. Late gadolinium enhancement (LGE) was reported at CMR in eight patients (40%), associated with an extension of the inflammatory process and myocardium infiltration. The valve insufficiency fraction allowed the degree of insufficiency of the valves affected by inflammatory processes to be estimated. A positive correlation was found between the degree of valve insufficiency assessed with CMR and echocardiography.CMR may serve as a useful method for diagnosing perivalvular complications in IE patients, although vegetation visualization is limited by the low spatial resolution of the method. CMR may prove superior to echocardiography in evaluating the degree of inflammatory process involvement in the myocardium. The degree of valve insufficiency and its hemodynamic significance can also be assessed.
Figure 1 A -magnetic resonance imaging, transverse view (tumor indicated by the arrow); B -magnetic resonance imaging, longitudinal view (tumor indicated by the arrow) A B AI PS
Surgical re-exploration due to postoperative bleeding that follows coronary artery surgery is associated with significant morbidity and mortality. The aim of this study was to assess a relationship between re-exploration, major postoperative complications, in-hospital mortality and mid-term outcomes in patients following coronary surgery, on the basis of nationwide registry data.We identified all consecutive patients enrolled in Polish National Registry of Cardiac Surgical Procedures (KROK Registry) who underwent isolated coronary surgery between January 2012 and December 2014. Preoperative data, major postoperative complications, hospital mortality and mid-term all-cause mortality were, respectively, analysed. Comparisons were performed in all patients, low-risk patients (EuroSCORE II < 2%, males, aged 60-70 years) and propensity-matched patients. The starting point for follow-up was the date of hospital discharge.Among 41 353 analysed patients, 1406 (3.4%) underwent re-exploration. Reoperated patients had more comorbidities, more frequent major postoperative complications, higher in-hospital mortality (13.2% vs 1.8%, P < 0.001) and higher mid-term mortality in survivors (P < 0.001). In the low-risk population, 3.0% of patients underwent re-exploration. Reoperated low-risk patients and propensity-matched patients also had more frequent major postoperative complications and higher in-hospital mortality, but mid-term mortality in survivors was similar. In a multivariable analysis, re-exploration was an independent predictor of death and all major postoperative complications.Surgical re-exploration due to postoperative bleeding following coronary artery surgery carries a high risk of perioperative mortality and is linked to major postoperative complications. Among patients who survive to hospital discharge, mid-term mortality is associated primarily with preoperative comorbidities.
Objective: Increased life expectancy highlights the need for extended longevity of bioprosthetic tissue in aortic valve replacement (AVR). We here report the outcomes through 5 year follow up of the EU RESILIA feasibility study, investigating the safety and performance in AVR patients of a bioprosthesis with the novel RESILIA tissue, made of bovine pericardium and incorporating integrity preservation technology. Methods: In this prospective, multicenter, single-arm EU RESILIA trial, an independent clinical events committee adjudicated safety events, and an independent echocardiographic core laboratory evaluated hemodynamic performance. Final results from a 5-year follow-up study, through April 20, 2018, are reported here. Results: Between July 2011 and February 2013, 133 patients requiring surgical AVR were implanted with the study valve. Average patient age at implant was 65.3 ± 13.5 years; 26% were ≤60 years old. A 19 or 21 mm valve was implanted in 43.6% of the patients. Study valve implantation was 100% successful. Average and total follow-up was 4.2 ± 1.5 years and 565.2 patient-years, respectively. There were 3 (2.3%) cases of all-cause death during the early (≤30 days) period and 18 (3.2%/554.4 late patient-years) during the late (>30 days) period. The incidence of major bleeding was 6.8% (9 patients) in the early period and 0.4%/late patient-years (2 events) in the late period. There were 0 early and 1 late event (0.2%/late patient-years) of each of valve thrombosis, endocarditis, explant, and non-structural valve dysfunction. There were no events of major paravalvular leak, hemolysis, or structural valve deterioration. The mean effective orifice area and transvalvular gradient at 5 years were 1.4 ± 0.5 cm2 and 14.8 ± 7.6 mm Hg, respectively. Conclusions: This longest-running evaluation of the RESILIA tissue demonstrated excellent safety outcomes and hemodynamic performance over 5 years of follow-up. We eagerly await the investigation of RESILIA™ tissue in the real-world setting.
