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Background: Marfan Syndrome (MFS) is a chronic, life-threatening, autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene, coding for fibrillin-1. All organ systems may be affected, but particularly the cardiovascular system, eyes, and skeleton. Mortality generally results from cardiovascular complications, mainly aortic dissection. Currently, the diagnosis of MFS is based on the revised Ghent nosology. Molecular analysis of the FBN1 gene reduces diagnostic uncertainty in patients with suspected MFS or MFS-related disorders (MFS-RD). To date, more than 2700 FBN1 mutations are known., Methods: Using Next Generation Sequencing (NGS) followed by Multiplex Ligation-dependent Probe Amplification on NGS-negative samples, we screened FBN1 gene on 124 unrelated patients (101 MFS fulfilling revised Ghent criteria, 20 suspected MFS, 3 MFS-RD) enrolled from 2008 to 2018 at the Multidisciplinary Marfan Clinic, Tor Vergata Hospital, Rome., Results: An FBN1 variant was identified in 107/124 (86.3%) patients, including 48 novel variants (46 pathogenic/likely pathogenic, 2 VUS). A pathogenic/likely pathogenic variant was detected in 90/101 (89.1%) MFS patients. Our approach allowed early diagnosis for 10 young patients (age 3-19 years) with suspected MFS., Conclusions: This study broadens the mutation spectrum of FBN1, providing a full update of the molecular basis of MFS in Italy., (Copyright © 2019 Elsevier B.V. All rights reserved.)

Background: An alarming rate of early failure has been recently reported for the LivaNova (previously Sorin) Mitroflow (LivaNova, London, UK) bioprosthesis. Here, we aimed at verifying if this possible underperformance is confirmed in a large, single-center experience and identifying the risk factors associated with early deterioration., Methods: In all, 459 Mitroflow valves have been implanted from July 2009 to December 2013 (patients' mean age 73 years; 204 women). Surviving patients have undergone yearly clinic and echocardiographic follow-up. Dysfunction was defined as moderate if the mean gradient was more than 30 mm Hg or severe if it exceeded 40 mm Hg. The population was divided on the basis of a dimensional mismatch, the model of the prosthesis (LX or DL: follow-up to 4 years), and patient's age at the time of implantation., Results: Cumulative freedom from moderate valve dysfunction was 81% ± 3% at 60 months. It was lower with patient-prosthesis mismatch (71% ± 5% versus 92% ± 3%; p = 0.0065) and with the more recent DL model (at 42 months: 78% ± 6% versus 96% ± 2%; p < 0.0001). Cumulative freedom from severe dysfunction was 93% ± 2% at 5 years. Again, it was inferior among patients with a mismatch (86% ± 4% versus 100%; p = 0.0013) and for the DL model (42 months: 92.5% ± 3% versus 98.5% ± 1%; p = 0.0309). Smaller prostheses showed higher rates of early degeneration., Conclusions: The LivaNova Mitroflow valve appears to be prone to early deterioration. Smaller size prostheses should be used cautiously and avoided with patient-prosthesis mismatch. The DL model anticalcification treatment seems unable to prevent early degeneration, and possibly contributes to even earlier failure., (Copyright © 2018 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

The Cooley-Cutter prosthesis is a caged-disc mechanical heart valve introduced by Dr Cooley in the 1960s. Although the valve has been implanted worldwide in more than 3,000 patients, there is a lack of detailed data on its long-term performance, only anecdotal reports. We report the case of a patient who had undergone aortic valve replacement with a Cooley-Cutter prosthesis 39 years earlier for rheumatic disease on a tricuspid aortic valve and in whom a proximal aortic aneurysm had subsequently developed., (Copyright © 2016 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

Background: Despite a wide development in aortic leaflets repair techniques, aortic valve annuloplastic procedures are still poorly investigated. We present our aortic valve annuloplastic system consisting of a handmade prosthetic ring with 2 components for reshaping the aortic annulus and sinotubular junction (STJ) and illustrates our surgical approach and clinical results., Methods: Since February 2003, 45 patients with aortic valve regurgitation underwent aortic annuloplasty using the new ring. Mean patient age was 58 ± 16 years (range, 46 to 76 years). The ring has 2 components: a circular ring used to undersize the circumference of the aortoventricular junction and 3-crown-like shape ring used for STJ remodeling. The circular ring was sutured into the left ventricular outflow tract in the aortic subvalvular position and the STJ ring was sutured from the outside of the aortic root just at the level of the STJ. The 3 vertical bands of the STJ ring were fixed to the underlying circular ring to stabilize the continuity between the STJ and nadir of the aortic valve., Results: No in-hospital death occurred. Two patients had residual trivial aortic valve regurgitation postoperatively, and 3 patients required treatment for residual aortic regurgitation (more than mild). Mean length of the coaptation surface was 10 ± 2 mm. The mean clinical follow-up (100% complete) was 22 ± 16 months. All patients were free from cardiac and valve-related events, and no complications due to ring implantation occurred., Conclusions: This ring reshapes the functional aortic annulus and stabilizes all components of the native aortic valve stent to improve long-term results of valve repair., (Copyright © 2011 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

Background: The aim of the study was to evaluate the clinical and echocardiographic outcomes, at rest and under exercise testing, of patients with moderate ischemic mitral regurgitation (IMR) undergoing isolated coronary artery bypass graft surgery (CABG)., Methods: Between February 2003 and March 2008, 180 patients with moderate IMR who had isolated CABG were enrolled. Patients were matched 1:2 (n = 360) with patients who underwent isolated CABG without IMR (by propensity score). The study endpoints were freedom from all death, cardiac related-death, late events, and cardiac-related events. Late outcomes and left ventricular remodeling were evaluated according to preoperative percent of ejection fraction. Symptoms and MR grade under exercise test were investigated. Mean follow-up was 30 ± 16 months., Results: The 5-year freedom from all deaths and from cardiac-related deaths among patients without IMR versus with IMR was, respectively, 90.5% ± 1.8% versus 73.7% ± 2.1% (p < 0.001) and 94.2% ± 1.6% versus 79.5% ± 1.5% (p < 0.001). Ischemic mitral regurgitation affects significantly late survival only in patients with ejection fraction 40% or less. The 5-year freedom from cardiac-related events among patients without and with IMR was, respectively, 88.2% ± 2.1% and 62.1% ± 1.2% (p < 0.0001). Patients with IMR experienced more cardiac-related events in comparison with patients without IMR. Ischemic mitral regurgitation promotes left ventricular remodeling in all patients. During exercise testing, the grade of MR moved from mild to moderate in 10 patients (28.5%) and to severe in 5 (14.3%). Among the 42 patients with moderate MR at rest, 32 patients (76%) moved from moderate to severe MR during exercise., Conclusions: Ischemic mitral regurgitation significantly increases the incidence of cardiac-related deaths among patients with ejection fraction 40% or less and the incidence of cardiac-related events, and promotes left ventricular remodeling. Most patients who had at-rest residual mild to moderate MR presented with a worse MR grade under exercise with the appearance of dyspnea., (Copyright © 2010 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

Background: Late survival and freedom from retreatment on the descending aorta was evaluated after ascending aortic repair for type A acute aortic dissection (TAAAD)., Methods: Between March 1992 and January 2006, 189 TAAAD patients (mean age, 52 +/- 11; range, 17 to 83 years) were included; of these, 58 had a patent false lumen, and 49 had Marfan syndrome. The descending aorta was evaluated postoperatively with computed tomography (CT). Late outcomes were assessed by Cox regression analysis and actuarial survival and freedom from retreatment by the Kaplan-Meier method. Mean follow-up was 88 +/- 44 months., Results: There were 38 (20%) late deaths. At 10 years, survival was 89.8% +/- 2.1% for patients with an occluded false lumen and 59.8% +/- 3.5% for patients with a patent false lumen (p = 0.001), and freedom from retreatment on the descending aorta was 94.2% +/- 3.1% for an occluded false lumen and 63.7% +/- 2.6% for a patent false lumen (p < 0.0001). Descending aortic rupture (p = 0.002) and a patent false lumen (p = 0.001) were predictors for late death. Patent false lumen (p = 0.0001), Marfan syndrome (p = 0.03), and descending aortic diameter 4.5 cm or larger (p = 0.002) were predictors for retreatment., Conclusions: A patent false lumen was a predictor for late death and retreatment on the descending aorta. Marfan syndrome and aortic size exceeding 4.5 cm were predictors for late retreatment. These patients require very close follow-up and a plan for retreatment on the descending aorta to prevent sudden rupture and late death.

Background: Repair of prolapsed aortic valve leaflets has been considered a challenging technique for cardiac surgeons. In this paper we describe our surgical approach, "the chordae technique." It consists of the correction of aortic cusp prolapse by shortening the free margin length and of an adjustment of the leaflets coaptation height by anchoring the prolapsing cusp to the aortic wall at the sinotubular junction level., Methods: Between February 2003 and December 2006, 26 patients with one or more prolapsed aortic leaflets underwent surgical repair using the new approach. The mean age of patients was 55 +/- 10 years. There were 10 (38.5%) patients with grade II aortic valve regurgitation, 4 (15.5%) with grade III, and 12 (46%) with grade IV. Twelve patients had a concomitant aortic root aneurysm requiring surgical treatment. There were 22 patients with tricuspid aortic valve, and 4 were bicuspid., Results: No in-hospital mortality occurred. The mean in-hospital stay was 8 +/- 2 days. The mean clinical follow-up was 14 +/- 8 months (range, 4 to 36 months). At follow-up, there were 4 (15.5%) patients with trivial aortic valve regurgitation and 22 (84.5%) patients without aortic valve regurgitation. All patients were free from aortic valve reoperation and free from cardiac and thromboembolism events., Conclusions: In patients with aortic valve regurgitation and cusp prolapse, functional aortic annulus stabilization and the use of the central chordae allows the correction of cusp prolapse and stabilizes the valve repair at follow-up, avoiding a repeat prolapse. We believe that this approach might represent a valuable and safe technique although long-term follow-up is mandatory.

Replacement of diseased chordae with Gore-Tex sutures (W. L. Gore & Assoc, Flagstaff, AZ) in patients with degenerative mitral valve insufficiency has become a standard technique used by surgeons in mitral valve repair with good long-term results. Nevertheless, determining the correct length of the artificial chordae has remained problematic. Although various procedures have been previously published, in this article we describe our approach used to achieve an accurate chordal height adjustment.

Background: Acute type A aortic dissection is a surgical emergency still associated with high postoperative complications. The aim of this study was to investigate factors for hospital mortality and neurologic deficit in patients undergoing emergency operation for acute type A aortic dissection., Methods: Eighty-five consecutive patients (age range, 20 to 82 years) operated on for acute type A aortic dissection over a 6-year period were evaluated. Univariate and stepwise multiple logistic regression analyses were conducted among 32 perioperative variables., Results: All patients underwent surgical procedures under deep hypothermic circulatory arrest. Antegrade or retrograde cerebral perfusion was used in 23 patients (27.1%) and 18 patients (21.2%), respectively. Forty-three patients underwent arch/hemiarch replacement and the ascending aorta was replaced in 42 patients. Overall mortality rate was 25.9% (22 of 85 patients). Multiple logistic regression analysis showed that lack of cerebral perfusion (p = 0.021) and postoperative renal failure (p = 0.006) were the best predictors for hospital death. Twenty-one patients (24.7%) experienced neurologic accidents. The risk factor for postoperative neurologic complication was lack of cerebral perfusion (p = 0.013). Hospital mortality was 13% (3 of 23 patients) and 16.7% (3 of 18 patients) in the antegrade and retrograde cerebral perfusion groups (p > 0.05) and neurologic deficit was 13% (3 of 23 patients) and 11.1% (2 of 18 patients), respectively (p > 0.05)., Conclusions: Hospital mortality and neurologic complications in patients undergoing emergent operation for acute type A aortic dissection were reduced when cerebral perfusion was used with deep hypothermic circulatory arrest.

Background: Lobectomy associated with reconstruction of the pulmonary artery (PA) is a technically feasible alternative to pneumonectomy in patients with lung cancer. However, concern about postoperative complications and long-term survival limited its acceptance so far., Methods: Between 1989 and 1996, we performed a PA reconstruction in 52 patients (41 men, 11 women; age range 35 to 75 years, mean 60 years) with lung cancer. Eleven patients had induction chemotherapy. We performed 15 PA sleeve resections, 34 PA reconstructions by a pericardial patch, and three PA reconstructions by a pericardial conduit, associated with a bronchial sleeve lobectomy or bilobectomy (33), or with standard lobectomy (19). Immediate and long-term postoperative evaluation included spirometry, echocardiography, perfusion lung scans, computed tomography, and PA angiography. The follow-up ranged between 27 and 96 months and is complete for all patients., Results: We had one specific postoperative complication (PA thrombosis) and no mortality. Perfusion scans and PA angiography were normal in all but the 1 patient having thrombosis. Mean forced expiratory volume (FEV) in 1 s and forced vital capacity (FVC) were, respectively, 72% and 80% preoperatively, 65% and 76% 1 month after surgery, and then they plateaued at 70% and 78% after 6 months. Echocardiography showed patterns in the normal range and normal estimates of PA pressures in all but 2 patients. Five-year survival was 38.3% for the entire group, 18.6% for stages IIIA and B, and 64.4% for stages I and II., Conclusions: Morbidity, mortality, and functional data do not differ from what is currently reported for standard lobectomy. Long-term survival is in line with that reported for standard resection. These data support PA reconstruction as a viable option in the treatment of lung cancer.

Mitral valve replacement in severe annular calcification may be complicated by atrioventricular rupture, left circumflex coronary artery injury, and thromboembolic events. Mitral valve replacement was performed in 2 patients with massive annular calcification, by suturing a Tissucol fibrin glue-treated Teflon patch on the posterolateral atrial wall. After 30 and 34 months, respectively, the valve was normally functioning and the patients were asymptomatic and free from hemorrhagic and thromboembolic events.

We describe a patient affected by infective endocarditis with aortic aneurysm, waiting for valve replacement, in which aortic cusp rupture determined sudden heart failure. Diagnosis was performed by serial transthoracic echocardiograms and successful surgical valve replacement was performed in emergency.