International external validation study of the 2014 European Society of Cardiology guidelines on sudden cardiac death prevention in hypertrophic cardiomyopathy …

C O'Mahony, F Jichi, SR Ommen, I Christiaans… - Circulation, 2018 - Am Heart Assoc
Background: Identification of people with hypertrophic cardiomyopathy (HCM) who are at
risk of sudden cardiac death (SCD) and require a prophylactic implantable cardioverter …

[HTML][HTML] Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a …

F Mazzarotto, F Girolami, B Boschi, F Barlocco… - Genetics in …, 2019 - nature.com
Purpose Genetic testing in hypertrophic cardiomyopathy (HCM) has long relied on Sanger
sequencing of sarcomeric genes. The advent of next-generation sequencing (NGS) has …

Effect of migalastat on cArdiac involvement in FabRry disease: MAIORA study

A Camporeale, F Bandera, M Pieroni… - Journal of Medical …, 2023 - jmg.bmj.com
Background A small but significant reduction in left ventricular (LV) mass after 18 months of
migalastat treatment has been reported in Fabry disease (FD). This study aimed to assess …

Effectiveness of subcutaneous implantable cardioverter-defibrillator testing in patients with hypertrophic cardiomyopathy

N Maurizi, I Tanini, I Olivotto, E Amendola… - International journal of …, 2017 - Elsevier
Abstract Background Subcutaneous ICD (S-ICD) is a promising option for Hypertrophic
Cardiomyopathy (HCM) patients at risk of Sudden Cardiac Death (SCD). However, its …

[HTML][HTML] Unusual gastric and pancreatic metastatic renal cell carcinoma presentation 10 years after surgery and immunotherapy: a case report and a review of …

C Riviello, I Tanini, G Cipriani, P Pantaleo… - World Journal of …, 2006 - ncbi.nlm.nih.gov
Renal cell carcinoma (RCC) is the most common renal tumor, accounting for 2%-3% of all
malignancies. Though RCC is known to spread hematogenously, isolated RCC metastasis …

Standard ECG for differential diagnosis between Anderson-Fabry disease and hypertrophic cardiomyopathy

G Vitale, R Ditaranto, F Graziani, I Tanini… - Heart, 2022 - heart.bmj.com
Objectives To evaluate the role of the ECG in the differential diagnosis between Anderson-
Fabry disease (AFD) and hypertrophic cardiomyopathy (HCM). Methods In this multicentre …

[HTML][HTML] A finite element model of cerebral vascular injury for predicting microbleeds location

H Duckworth, A Azor, N Wischmann… - … in Bioengineering and …, 2022 - frontiersin.org
Finite Element (FE) models of brain mechanics have improved our understanding of the
brain response to rapid mechanical loads that produce traumatic brain injuries. However …

Prevalence of inherited cardiac diseases among young patients requiring permanent pacing

L Tassetti, F Girolami, C Fumagalli… - Circulation …, 2021 - Am Heart Assoc
Juvenile bradyarrhythmias are an established red flag for genetic heart conditions, but the
prevalence of inherited diseases among patients requiring a pacemaker at an early age is …

New insights from the application of the FAbry STabilization indEX in a large population of Fabry cases

R Mignani, M Pieroni, A Pisani, M Spada… - Clinical kidney …, 2019 - academic.oup.com
Abstract Background The FAbry STabilization indEX (FASTEX) is an innovative index
allowing the assessment of clinical stability over time in Fabry disease patients. This index …

[HTML][HTML] Optical coherence tomography angiography for the evaluation of retinal vasculature in Fabry disease: our experience and review of current knowledge

D Bacherini, G Vicini, C Nicolosi, I Tanini… - Frontiers in …, 2021 - frontiersin.org
Purpose: Optical coherence tomography angiography (OCTA) is a non-invasive and
objective tool for the evaluation of the retinal microvascular changes in Fabry disease (FD) …