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Multi-factorial causes jeopardize brain integrity in β-thalassaemia. Intracranial parenchymal and vascular changes have been reported among young β-thalassaemia patients but conventional magnetic resonance imaging (MRI) findings are contradictory making early MRI and magnetic resonance angiography (MRA)/venography monitoring a matter of debate. This study prospectively investigated 75 neurologically asymptomatic β-thalassaemia patients (mean-age 35·2±10·7years; 52/75 transfusion-dependent; 41/75 splenectomised) using a 3T magnetic resonance scanner; clinical, laboratory and treatment data were also collected. White matter ischaemic-like abnormalities, intracranial artery stenoses, aneurysms and sinus venous thrombosis were compared between patients and 56 healthy controls (mean-age 33·9±10·8years). No patient or control showed silent territorial or lacunar strokes, intracranial artery stenoses or signs of sinus thrombosis. White matter lesions were found both in patients (35/75, 46·7%) and controls (28/56, 50·0%), without differences in terms of number (4·0±10·6 vs. 4·6±9·1, P=0·63), size and Fazekas' Score. Intracranial aneurysms did not differ between patients and controls for incidence rate (7/75, 9·3% vs. 5/56, 8·9%), size and site. Vascular and parenchymal abnormality rate did not differ according to treatments or clinical phenotype. According to this study, asymptomatic β-thalassaemia patients treated according to current guidelines do not seem to carry an increased risk of brain and intracranial vascular changes, thus weakening recommendations for regular brain MRI monitoring.

Cognitive involvement in beta-thalassaemia is strikingly controversial and poorly studied in adulthood. This multicentre prospective study investigated 74 adult neurologically-asymptomatic beta-thalassaemia patients (mean-age 34 center dot 5 +/- 10 center dot 3 years; 53 transfusion-dependent [TDT], 21 non-transfusion dependent [NTDT]) and 45 healthy volunteers (mean-age 33 center dot 9 +/- 10 center dot 7 years). Participants underwent testing with Wechsler Adult Intelligence Scale-Fourth Edition (WAIS-IV), Brief Psychiatric Rating Scale (BPRS) and multiparametric brain 3T-magnetic resonance imaging (MRI) for parenchymal, vascular and iron content evaluation. Patients had lower Full-Scale Intelligence Quotient (FSIQ) than controls (75 center dot 5 +/- 17 center dot 9 vs. 97 center dot 4 +/- 18 center dot 1, P < 0 center dot 0001) even after correction for education level. Compared to TDT, NTDT showed a trend of higher FSIQ (P = 0 center dot 08) but a similar cognitive profile at WAIS-subtests. FSIQ correlated with total and indirect bilirubin (P P = 0 center dot 002, respectively); no correlation was found with splenectomy, intracranial MRI/magnetic resonance-angiography findings, brain tissue iron content or other disease-related clinical/laboratory/treatment data. FSIQ did not correlate with BPRS scores, although the latter were higher among patients (28 center dot 74 +/- 3 center dot 1 vs. 27 center dot 29 +/- 4 center dot 8, P = 0 center dot 01) mainly because of increased depression and anxiety levels. Occupation rate was higher among controls (84 center dot 4% vs. 64 center dot 9%, P = 0 center dot 004) and correlated with higher FSIQ (P = 0 center dot 001) and education level (P = 0 center dot 001). In conclusion, Italian adult beta-thalassaemia patients seem to present a characteristic cognitive profile impairment and an increased rate of psychological disorders with possible profound long-term socio-economic consequences.

Genome editing, or genome engineering is a type of genetic engineering in which DNA is inserted, deleted or replaced in the genome of a living organism using engineered nucleases, or molecular scissors. Genome editing is being rapidly adopted into all fields of biomedical research, including the cardiovascular field, where it has facilitated a greater understanding of lipid metabolism, electrophysiology, cardiomyopathies, and other cardiovascular disorders, has helped to create a wider variety of cellular and animal models, and has opened the door to a new class of therapies. In this review, we discuss the applications of in vivo genome-editing therapies for cardiovascular disorder.

Hereditary hypochromic microcytic anemia associated with loss‐of‐function DMT1 gene mutations and absence of liver iron overload Maddalena Casale;Adriana Borriello;Saverio Scianguetta;Domenico Roberti;Martina Caiazza;Debora Bencivenga;Immacolata Tartaglione;Saverio Ladogana;Matteo Maruzzi;Fulvio Della Ragione;Silverio Perrotta; American Journal of Hematology

Background: Brain involvement in beta thalassemia is scarcely known so far, and available data show different degrees of abnormalities in terms of neuroradiologic findings and cognitive impairment, mainly showing asymptomatic white matter lesions in transfusion dependent thalassemia (TDT; Karimi et al, Ann Hematol 2016) or in non transfusion dependent thalassemia (NTDT; Karimi et al, Ann Hematol 2012; Pazgal et al, Thrombosis Research 2016), arterial stenosis in NTDT (Musallam et al, EJH 2011) and a general impairment in cognitive function in TDT (Elalfy et al, Hematology 2017). To our knowledge there are no studies investigating neuroimaging and cognitive function in both groups of patients, comparing results to healthy subjects. Methods: In our observational study thalassemic patients from 4 major Centers in the South of Italy, aged more than 16 years

No abstract

Background Myocardial Work (MW) is a novel non-invasive echocardiographic method for myocardial performance assessment. MW is abnormal in patients with many forms of left ventricular hypertrophy [hypertrophic cardiomyopathy (HCM), hypertensive cardiomyopathy (HypCM), aortic stenosis (AS)] while little is known about cardiac amyloidosis (CA). Purpose We aimed to evaluate the role of MW in myocardial performance assessment, diagnostic significance and prognostic relevance in CA patients. Methods 25 patients with CA (10 AL pts and 15 ATTRwt pts) and 75 patients with LVH (25 HCM pts, 25 HypCMP pts, 25 pts mild AS pts) were enrolled. Beside routine measurements, deformation parameters [GLS (Global Longitudinal Strain), EFSR (Ejection Fraction on Strain Ratio), RRSR (Relative Regional Strain Ratio)], and MW parameters [MWI (Myocardial Work Index), GCW (Global Constructive Work), GWW (Global Wasted Work), GWE (Global Work Efficiency)] for LV function evaluation were analysed. Results LV and RV function evaluated with classical and novel parameters were significantly impaired in CA group (see table). Among all these parameters, GCW showed the best performance to discriminate CA from other forms of LVH (AUC 0.90; 95% CI: 0.80–0.99; P Discussion Myocardial performance was reduced in CA group. GCW was able to discriminate CA from other forms of LVH and showed to be an independent prognostic factor. In our pilot study GCW seems a promising novel diagnostic and prognostic factor in CA. Kaplan-Meier curve Funding Acknowledgement Type of funding source: None

"Sudden unexplained death (SUD) is a tragic event for both the family and community, particularly when it occurs in young individuals. Sudden cardiac death (SCD) represents the leading form of SUD and is defined as an unexpected event without an obvious extracardiac cause, occurring within 1hour after the onset of symptoms. In children, the main causes of SCD are inherited cardiac disorders, whereas coronary artery diseases (congenital or acquired), congenital heart diseases, and myocarditis are rare. The present review examines the current state of knowledge regarding SCD in children, discussing the epidemiology, clinical causes, and prevention strategies."