Background: The purpose of our study was to investigate the potential contribution of germline mutations in NOTCH1, GATA5 and TGFBR1 and TGFBR2 genes in a cohort of Italian patients with familial Bicuspid Aortic Valve (BAV). Methods: All the coding exons including adjacent intronic as well as 5^′ and 3^′ untranslated (UTR) sequences of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes were screened by direct gene sequencing in 11 index patients (8 males; age = 42 ± 19 years) with familial BAV defined as two or more affected members. Results: Two novel mutations, a missense and a nonsense mutation (Exon 5, p.P284L; Exon 26, p.Y1619X), were found in the NOTCH1 gene in two unrelated families. The mutations segregated with the disease in these families, and they were not found on 200 unrelated chromosomes from ethnically matched controls. No pathogenetic mutation was identified in GATA5, TGFBR1 and TGFBR2 genes. Conclusions: Two novel NOTCH1 mutations were identified in two Italian families with BAV, highlighting the role of a NOTCH1 signaling pathway in BAV and its aortic complications. These findings are of relevance for genetic counseling and clinical care of families presenting with BAV. Future studies are needed in order to unravel the still largely unknown genetics of BAV.

Transcatheter aortic valve implantation (TAVI) is a valuable alternative for aortic valve replacement in selected high-risk candidates. Accurate preoperative assessment of the aortic annular dimensions is crucial for the success of TAVI, since choice of an incorrectly sized prosthesis may result in catastrophic complications. These complications include annular rupture and coronary arterial obstruction, if the prosthesis is too big, or prosthesis migration and severe paravalvular leakage, if the prosthesis is too small. According to current recommendations, the choice of prosthesis size is based on transoesophageal echocardiography (TEE) measurements. However, TEE results are dependent on operator experience. Moreover, recent research has shown that TEE can significantly underestimate annular dimensional measurements. Alternative sizing methods based on Multidetector Computed Tomography (MDCT) or manometry during balloon aortic valvuloplasty have therefore been developed. We present a brief overview of the imaging modalities available for preoperative assessment of annular size and discuss their potential advantages and limitations.

Aims Previous studies have shown that prodromal angina (PA) occurs frequently in acute myocardial infarction (MI) patients. However, the potential benefits of PA on ischaemic myocardial damage remain unknown. Methods and results One-hundred and fifty-four patients with acute ST-segment elevation MI successfully treated with primary percutaneous coronary intervention (PPCI) were prospectively evaluated for new-onset PA in the week preceding infarction and other factors known to influence myocardial salvage. Cardiovascular magnetic resonance was performed 8 ± 3 days after MI for the assessment of area-at-risk (AAR), MI size, myocardial haemorrhage (MH), microvascular obstruction (MO), and myocardial salvage index (MSI). Patients with PA ( n = 60) compared with those without PA ( n = 94) showed similar AAR but significantly smaller MI size leading to larger MSI (0.53 ± 0.27 vs. 0.32 ± 0.26, P < 0.001). Additionally, patients with PA had lower incidence of MH (18 vs. 33%) and MO (22 vs. 46%) than non-PA patients (both P < 0.05). At univariate analysis, higher MSI was associated with new-onset PA, lower myocardial oxygen consumption before PPCI, shorter time-to-PPCI, and higher post-procedural TIMI flow-grade. Neither collateral circulation nor medications administered before PPCI were associated to MSI. After correction for other covariates by multivariate analysis, new-onset PA remained significantly associated with MSI (β-value: 0.352, P < 0.001). Conclusion In acute MI patients, new-onset PA is associated with higher MSI independent of others factors known to influence jeopardized myocardium, as well as with less microvascular damage.

Traditionally, in patients with mitral regurgitation (MR) a successful mitral valve repair is considered when residual MR by post-pump transesophageal echocardiography (TEE) is less than moderate or absent. Little is known about the prognostic value of less than moderate (mild or mild-to-moderate) residual MR for the early outcome of patients treated with mitral valve repair. Eligible for this study were patients undergoing isolated mitral valve repair. Patients with moderate or severe residual MR after valve repair were excluded. The primary endpoint of the study was the composite of death or need of reintervention. A total of 98 patients (54 with no residual MR-Group 1, and 44 with less than moderate residual MR-Group 2) were analyzed. Of these, 72% presented with New York Heart Association (NYHA) 3/4, and 38% were women. The primary endpoint of the study occurred in 3 (5.5%) patients in Group 1 and 6 (13.6%) patients in Group 2 MR (P = 0.31). There was a trend toward a higher incidence of use of inotropic drugs post-interventional (P = 0.12), and a longer hospital stay among patients with less than moderate residual MR (P = 0.18). In our study population, patients with less than moderate residual MR had a trend toward a higher risk of early adverse outcomes as compared with patients with no residual MR by post-pump TEE. Studies with a larger patient population and longer follow-up data may be useful to better define the clinical significance of residual mild MR after mitral vale repair.