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Concept: Aortic valve


Left-sided congenital heart disease (CHD) encompasses a spectrum of malformations that range from bicuspid aortic valve to hypoplastic left heart syndrome. It contributes significantly to infant mortality and has serious implications in adult cardiology. Although left-sided CHD is known to be highly heritable, the underlying genetic determinants are largely unidentified. In this study, we sought to determine the impact of structural genomic variation on left-sided CHD and compared multiplex families (464 individuals with 174 affecteds (37.5%) in 59 multiplex families and 8 trios) to 1,582 well-phenotyped controls. 73 unique inherited or de novo CNVs in 54 individuals were identified in the left-sided CHD cohort. After stringent filtering, our gene inventory reveals 25 new candidates for LS-CHD pathogenesis, such as SMC1A, MFAP4, and CTHRC1, and overlaps with several known syndromic loci. Conservative estimation examining the overlap of the prioritized gene content with CNVs present only in affected individuals in our cohort implies a strong effect for unique CNVs in at least 10% of left-sided CHD cases. Enrichment testing of gene content in all identified CNVs showed a significant association with angiogenesis. In this first family-based CNV study of left-sided CHD, we found that both co-segregating and de novo events associate with disease in a complex fashion at structural genomic level. Often viewed as an anatomically circumscript disease, a subset of left-sided CHD may in fact reflect more general genetic perturbations of angiogenesis and/or vascular biology.

Concepts: Gene, Genetics, Copy number variation, Human genome, Biology, Heart, Aortic valve, Hypoplastic left heart syndrome


OBJECTIVESThe Trifecta valve (St. Jude Medical) was introduced into clinical practice as a tri-leaflet stented pericardial valve designed for supra-annular placement in the aortic position. The present study aims to evaluate the preliminary results with this new bioprosthesis.METHODSSeventy patients underwent aortic valve replacement (AVR) with the Trifecta valve between August 2010 and December 2011. Thirty-three patients were male and 37 were female (52.9%). Mean age was 74.65 ± 7.63 (range 47-90 years). Prevalent cause of AVR was aortic stenosis in 64 (91.43%) patients. The mean preoperative pressure gradient was 50 ± 17 (range 20-84 mmHg), and the mean aortic valve area was 0.77 ± 0.33. Five (7.14%) patients were operated on due to aortic valve endocarditis. One patient was operated on due to isolated, severe aortic insufficiency. All patients were in New York Heart Association functional class III or IV. Twenty-eight (40%) patients underwent concomitant procedures.RESULTSConcomitant procedures were coronary artery bypass grafting (n = 25), mitral valve replacement (n = 1), ablation of atrial fibrillation (n = 1) and septal myomectomy (n = 1). There were no intraoperative deaths. The 30-day in-hospital mortality was 2.85% (2 of 70). One late death occurred during the in-hospital stay due to a multiorgan failure on postoperative day 60. There were 2 (2.85%) perioperative strokes. Mean pressure gradient decreased significantly from a preoperative value of 50 ± 17 mmHg to an intraoperative gradient of 9 ± 4 mmHg (Table 3). The mean gradients were 14, 11, 11, 8 and 6 mmHg for the 19, 21, 23, 25 and 27 mm valve size, respectively. No prosthesis dislocation, endocarditis, valve thrombosis or relevant aortic regurgitation was observed at discharge.CONCLUSIONSThe initial experience with the Trifecta valve bioprosthesis shows excellent outcomes with favourable early haemodynamics. Further studies with longer follow-up are needed to confirm those preliminary results.

Concepts: Cardiology, Heart, Mitral valve prolapse, Aortic valve, Valvular heart disease, Aortic valve stenosis, Aortic valve replacement, Aortic insufficiency


Thoracic aortic aneurysm is usually a clinically silent disease; timely detection is largely dependent upon identification of clinical markers of thoracic aortic disease (TAD); (bicuspid aortic valve, intracranial aortic aneurysm, bovine aortic arch, or positive family history). Recently, an association of simple renal cysts (SRC) with abdominal aortic aneurysm and aortic dissection was established. The aim of our study was to evaluate the prevalence of SRC in patients with TAD in order to assess whether the presence of SRC can be used as a predictor of TAD.

Concepts: Aortic aneurysm, Aneurysm, Aortic dissection, Aorta, Abdominal aortic aneurysm, Aortic valve, Bicuspid aortic valve, Thoracic aortic aneurysm


Transcatheter interventions with balloon-expandable valves have been shown to be efficacious for the treatment of mitral annuloplasty failure but are limited by the fact that there is no opportunity for post-implantation adjustment. The aim of this study was to assess the safety and efficacy of the fully repositionable and retrievable Direct Flow Medical (DFM) valve for the treatment of mitral annuloplasty failure.

Concepts: Left ventricle, Aortic valve, Valve, Artificial heart valve, Mitral valve repair


Transcatheter aortic valve replacement (TAVR) in patients with bicuspid aortic valve stenosis (AS) is being increasingly performed.

Concepts: Aortic valve, Aortic insufficiency


Reoperation for failing stentless aortic valve replacement is a technically demanding procedure that has traditionally been tackled in one of two ways: either root replacement or the more conservative option of implanting a stented valve within the valve. We sought to determine the relative operative risks, follow-up status and medium to long-term survival of these two methods.

Concepts: Derivative, Left ventricle, Aortic valve, Valve, Valve Corporation, Aortic valve replacement, Aortic insufficiency


We report a case with a very rare complication of transcatheter aortic valve implantation. Rupture of the NovaFlex balloon (Edwards transfemoral balloon catheter) occurred during the inflation of the Edwards SAPIEN valve, resulting in dissection of the right common and external iliac arteries during withdrawal of the balloon catheter. The NovaFlex balloon is a part of the Edwards NovaFlex XT transfemoral delivery system.

Concepts: Right-wing politics, External iliac artery, Aortic valve, Internal iliac artery, Arteries, Iliac artery, Iliac vein, X-Force


Valve-sparing aortic root reconstruction (VSRR) is an accepted method to treat patients with aortic root dilation. The role of the VSRR is less well defined for patients with bicuspid aortic valve, severe aortic valve insufficiency, congenital heart defects, and type A aortic dissection. We studied the clinical outcome of patients who underwent VSRR for expanded indications.

Concepts: Aortic aneurysm, Aortic dissection, Aorta, Congenital heart defect, Congenital heart disease, Aortic valve, Aortic insufficiency, Bicuspid aortic valve


OBJECTIVE: A supra-annular aortic valve prosthesis is often used for aortic valve replacement in patients with a small aortic annulus. However, which suture technique provides the best valve performance has not been studied. We aimed to compare valve performance between 2 different suture techniques. METHODS: We reviewed 152 patients undergoing aortic valve replacement with a 19- or 21-mm Carpentier-Edwards Perimount Magna aortic bioprosthesis (Edwards Lifesciences, Irvine, Calif) between June 2008 and December 2010. Simple interrupted sutures were used in 102 patients (group A, 19-mm prosthesis in 47 patients and 21-mm prosthesis in 55 patients), and noneverting mattress sutures were used in 50 patients (group B, 19-mm prosthesis in 20 patients and 21-mm prosthesis in 30 patients). Transthoracic echocardiograms were performed at baseline and before discharge in all patients and 1 year after surgery in 141 patients. We compared the effective orifice area and incidence of prosthesis-patient mismatch (effective orifice area index <0.85 cm(2)/m(2)) between 2 groups. RESULTS: The mean postoperative effective orifice areas were 1.41 ± 0.32 cm(2)/m(2) in group A and 1.30 ± 0.28 cm(2)/m(2) in group B (P = .025). The incidence of prosthesis-patient mismatch was 29% in group A and 56% in group B (P = .002). A multivariate analysis has shown that simple interrupted suturing is a negative predictor of prosthesis-patient mismatch (odds ratio, 0.33; 95% confidence interval, 0.13-0.83; P = .018). At 1 year, the incidence of prosthesis-patient mismatch was 27% in group A and 47% in group B (P = .023). CONCLUSIONS: Simple interrupted sutures provide larger effective orifice areas and reduce the incidence of prosthesis-patient mismatch after aortic valve replacement with a small supra-annular bioprosthesis. This suture technique is preferred in those patients to maximize valve performance.

Concepts: Surgical suture, Aortic valve, Simple interrupted stitch


To evaluate factors associated with aortic enlargement in patients with a bicuspid aortic valve (BAV) and the impact of isolated aortic valve replacement (AVR).

Concepts: Aortic aneurysm, Aortic valve, Aortic valve replacement, Aortic insufficiency, Bicuspid aortic valve