0000000000417390
AUTHOR
Emanuela Clara Bertolino
showing 3 related works from this author
The methylenetetrahydrofolate reductase C677T polymorphism and the risk of congenital heart diseases: a literature review
2014
Congenital Heart Diseases (CHDs) are the most commonand serious developmental anomaly and the leading non-infectious cause of mortality in the first year of life. Despite the advances in diagnosis and treatment, understanding of the developmental causes and aetiologies of CHDs has been limited. The hyperhomocysteinemia is one of the proved risk factors related to the occurrence of CHDs. The connection between cardiac defects, folate and hyperhomocysteinemia could be explained by a mutation in the methylenetetrahydrofolate reductase (MTHFR) gene. Indeed, the C677T MTHFR mutation produces a thermolabile variant of MTHFR with reduced enzymatic action resulting in higher plasma levels of homocy…
Mitral valve annuloplasty and papillary muscle relocation oriented by 3-dimensional transesophageal echocardiography for severe functional mitral reg…
2012
Objective The study of the mitral valve apparatus and its modifications during functional mitral regurgitation (FMR) is better revealed by 3-dimensional (3D) transesophageal echocardiography (TOE). To plan mitral valve repair by annuloplasty and papillary muscle (PPM) relocation, we proposed a valve repair procedure oriented by the new main features obtained by real-time 3D TOE reconstruction of the mitral valve apparatus. Methods Since January 2008, 25 patients with severe FMR before mitral valve repair were examined. Mean coaptation depth and mean tenting area were 1.3 ± 0.2 cm and 3.2 ± 0.5 cm 2 , respectively. Intraoperative 2D and 3D TOE were performed, followed by a 3D offline reconst…
Bicuspid aortic valve and unruptured sinus of Valsalva aneurysm, a rare association
2016
Bicuspid aortic valve (BAV) is one of the most common forms of congenital heart defect and is associated with other congenital vascular and cardiac defects. The most common comorbidity is dilation of thoracic aorta and clinical manifestations are usually related to function of the aortic valve and to other cardiovascular acquired complications. Sinus of Valsalva aneurysm (SVA) is an uncommon congenital cardiovascular anomaly and the combination of these two anomalies is very rare. Common complications are rupture and obstruction of the termination chamber due to space-occupying effect of large unruptured aneurysms. Early cardiac imaging can help limiting morbidity and mortality in these pat…