Abstract Background The genetic background of paediatric cardiomyopathies is only partially resolved, because their rarity and heterogeneity. However, the assessment aetiology paramount importance in order to define prognosis therapeutic choices. Moreover, recognition causes basis for cascade screening family. Aims This study aimed identify children evaluated followed at our hospital. Methods A...

Abstract Intersex newborns, children and adolescents frequently are subjected to not clinically necessary surgeries other non-consensual treatments. According the UN Factsheet Intersex, “Intersex people born with sex characteristics (including genitals, gonads chromosome patterns) that do fit typical binary notions of male or female bodies”. Since 1950s, Western medicine developed a clinical mo...

Background Lysosomal storage disease (LSD) is a rare inherited disease group. Consecutively there are few data on cardiac changes in mucopolysaccharidosis (MPS), Anderson Fabry disease (AFD), and other LSD (oLSD) including Pompe disease (PD) and Danon disease (DD), I-cell disease ICD and mucolipidosis III (ML III). Methods Between 1994 and 2011, we identified 39 patients with LSD: 25 with MPS...

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1. Sansonno D, De Re V, Lauletta G, Tucci FA, Boiocchi M, Dammacco F. Monoclonal antibody treatment of mixed cryoglobulinemia resistant to interferon with an anti-CD20. Blood 2003; 101:3818–26. 2. Zaja F, De Vita S, Mazzaro C et al. Efficacy and safety of rituximab in type II mixed cryoglobulinemia. Blood 2003;101:3827–34. 3. Rosenthal E, Pesce A, Karsenti JM, Allieri-Rosenthal MA, Cassuto JP. ...

Abstract Funding Acknowledgements Type of funding sources: None. The defibrillation test (DFT) an implantable cardioverter-defibrillator (ICD) is performed to evaluate ventricular fibrillation detection and termination. In adults, routine testing for transvenous ICD less usually done as some studies found no advantages but potentially risks associated with. On the other hand, implantation ICDs ...

Abstract Background Hypertrophic cardiomyopathy (HCM) has long been described as the archetypal monogenic cardiac disease. It fulfils criteria for Mendelian inheritance and painstaking early co-segregation studies by Seidman et al in 1990 lead to discovery that mutations MYH7 cause HCM. From here, genetic architecture of HCM gradually assembled thousands individual discovered. The complexity ge...