Update on the Organizational Aspects of Echocardiography in Italy (From Operator Training to the Report: 2007-2019): A Consensus Document by the "Società Italiana di Ecocardiografia e CardioVascular Imaging" Accreditation Area and Board 2017-2019.

In 2007, Società Italiana di Ecocardiografia e CardioVascular Imaging (SIECVI) already SIEC, published the document on the organization of echocardiography in Italy. In the years following the technological evolution, cultural and health factors have changed "the way, we do echo" as a tool for the different clinical pathways. The SIECVI Accreditation Area and Board 2017-2019 considered necessary to review and update the document in the light of innovation in the application of ultrasound for the heart disease assessment.

Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy.

Dilated cardiomyopathy (DCM) commonly causes heart failure and shows extensive genetic heterogeneity that may be amenable to newly developed next-generation DNA sequencing of the exome. In this study we report the successful use of exome sequencing to identify a pathogenic variant in the TNNT2 gene using segregation analysis in a large DCM family. Exome sequencing was performed on three distant relatives from a large family with a clear DCM phenotype.

[Stress echocardiography in valvular heart disease].

The assessment of the severity of a valvular lesion traditionally relies on the evaluation of valvular anatomy and on the demonstration of resting hemodynamic disturbances. In patients with stenotic lesions, this is usually achieved by measuring the trans-stenotic pressure difference and by calculating the surface of the stenotic orifice. In patients with regurgitant lesions, assessment of lesion severity involves the demonstration of a significant volume or pressure overload of the various chambers participating in the process.

[Isolated left ventricular non-compaction].

Isolated left ventricular noncompaction is a genetically heterogeneous congenital disorder characterized by an altered structure of the myocardial wall. This cardiomyopathy is thought to be due to an arrest of intrauterine compaction of the myocardial fibers in the absence of any other structural heart disease. Noncompaction of the left ventricular myocardium is an uncommon finding and remains frequently overlooked even by experienced echocardiographers.