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Background: The Cocoon septal occluder (CSO) is a new generation double disk occluder device for catheter closure of the secundum atrial septal defect (ASD). Initial clinical evaluations with the use of this device have shown quite satisfactory results but large follow-up studies are missing. In this international multicenter study, we present procedural and follow-up data from 4008 patients with secundum ASD who underwent catheter closure with the use of CSO. Methods: The study cohort consisted of 1853 pediatric and 2155 adult patients with secundum ASD treated with the CSO. Patients were enrolled retrospectively from 11 international centers and were followed for a mean period of 43 months (range 12–84 months), postprocedural. Clinical, electrocardiographic, echocardiographic, procedural, and follow-up data were collected from each collaborating hospital. Results: The CSO was permanently implanted in 3983 patients (99.4%). Echocardiographic evaluation at one month follow-up revealed complete closure in 99.6% of those patients who had a device implanted. Thrombus formation in one adult patient was the only major device related to procedural complication. During the follow-up period, no patient developed cardiac erosions, allergic reactions to nickel, or other major complications. Conclusions: Implantation of CSO provided satisfactory procedural and follow-up results with high success and no device-related cardiac erosions and nickel allergy.

Background: Risk assessment in the expanding population of adult patients with congenital heart disease (ACHD) is of high importance. Aim: To report clinical characteristics, complications, mortality rate and causes of death in a single-centre ACHD cohort. Methods: Data were prospectively collected from an ACHD outpatient clinic from January 2012 until December 2019. Results: Of 356 patients (median age 34 years, 52.5% female), 116 (32.6%) were classified as simple, 182 (51.1%) as moderate and 58 (16.3%) as complex ACHD. At baseline assessment, more than half (n ​= ​184) were symptomatic, while 69 patients (19.4%) had a history of arrhythmia and 21 (5.9%) a history of heart failure (HF) hospitalisation. Over a median follow-up of 4 years (1–7 years), 29 (8.1%) patients died, mainly due to HF. In multivariate Cox regression analysis, age [hazard ratio (HR) 1.03 (confidence interval (CI) 1.00–1.05), p ​= ​0.034], Bethesda classification [HR 1.77 (CI 1.05–3.02), p ​= ​0.034], NYHA class III/IV [HR 3.28 (CI 1.19–9.04), p ​= ​0.022] and history of HF hospitalisation [HR 3.79 (CI 1.27–11.30), p ​= ​0.017] predicted all-cause death. A total of 16.3% of patients developed complications, which were independently predicted by age [HR 1.03 (CI 1.01–1.05), p ​= ​0.004], history of surgical procedure [HR 1.45 (CI 1.12–1.86), p ​= ​0.004] and history of HF hospitalisation [HR 3.38 (CI 1.56–7.29), p ​= ​0.002]. Conclusion: HF was the leading cause of death in this ACHD cohort and HF hospitalisation was a predictor of morbidity and mortality. These findings highlight the need for prevention of HF hospital admissions and strategies to improve postdischarge outcomes.

PurposeLeft ventricular non-compaction (LVNC) is characterized by a 2-layered myocardium composed of a noncompacted (NC) and a compacted (C) layer. The echocardiographic NC:C ratio is difficult to assess in many patients. The aim of the study was to assess the value of cardiac computed tomography (CCT) for the diagnosis of LVNC.MethodsIn this prospective controlled study, segmental analysis of transthoracic echocardiography (TTE) and prospective ECG-triggered CCT was performed in 17 patients with LVNC and 19 healthy controls. In TTE maximal NC and C thickness was measured at enddiastole and endsystole in the segment with most prominent trabeculation in short axis views. In CCT, maximal segmental NC and C thickness was measured during diastole, and NC:C ratio was determined. Spearman's correlation coefficient and receiver operating characteristic curves were calculated.ResultsThe median [IQR] radiation dose was 1.3[1.2-1.5]mSv. The CCT thickness of the C layer was significantly lower in patients with LVNC as compared to controls in the inferolateral, midventricular, lateral-, inferior-, and septal-apical segments. The CCT NC:C ratio differed significantly between LVNC and controls in the inferior-midventricular and all the apical segments. NC:C ratio correlated significantly between TTE and CCT at enddiastole (σ = 0.8) and endsystole (σ = 0.9). Using a CCT NC:C ratio ≥1.8, all LVNC patients could be identified.ConclusionLVNC can be diagnosed with ECG-triggered low-dose CCT and discriminated from normal individuals using a NC:C ratio of ≥1.8 in diastole. There is a very good correlation of NC:C ratio in TTE and CCT.

Εmerging data indicate that various effects of obesity on the cardiovascular system can be evident during childhood. The aim of this study was to detect early changes in left ventricular structure and function in obese normotensive children and explore possible associations of these changes with anthropometric and biochemical parameters. Normotensive 8–11-year-old obese and normal weight children were included in the study. They all underwent anthropometric measurements, laboratory tests, and echocardiography study by conventional and tissue Doppler to assess geometric pattern and function of left ventricle. Statistically significant differences in most anthropometric and metabolic parameters were noticed between groups. Obese children showed higher left ventricular mass index (LVMI) (40.05 ± 9.44 vs. 28.31 ± 6.22), lower E/A ratio (1.76 ± 0.33 vs. 2.08 ± 0.56), and higher E/e’ (6.04 ± 1.13 vs. 5.43 ± 0.96) compared to lean peers. Waist-to-height ratio and hs-CRP correlated significantly with E/A in the obese group. Left ventricular hypertrophy was present in 47.2% of obese children and eccentric was the prominent type. Waist-to-height ratio and serum cortisol levels in plasma increased the odds of having any type of abnormal ventricular geometric pattern. Echocardiographic evaluation of left ventricle and diastolic function could be considered for obese normotensive children based on waist-to-height ratio, hs-CRP, and serum cortisol.

Background and Objectives Somatic mutations in the calreticulin gene (CALR) are detected in approximately 70% of patients with essential thrombocythemia (ET) and primary or secondary myelofibosis (MF), lacking the JAK2and MPLmutations. To determine the prevalence of CALRframeshift mutations in a population of MPN patients of Greek origin, we developed a rapid low-budget PCR-based assay and screened samples from 5 tertiary Haematology units. This is a first of its kind report of the Greek patient population that also disclosed novel CALRmutants. Methods MPN patient samples were collected from different clinical units and screened for JAK2and MPLmutations after informed consent was obtained. Negative samples were analyzed for the presence of CALRmutations. To this end, we developed a modified post Real Time PCR High Resolution Melting Curve analysis (HRM-A) protocol. Samples were subsequently confirmed by Sanger sequencing. Results Using this protocol we screened 173 MPN, JAK2and MPLmutation negative, patients of Greek origin, of whom 117 (67.63%) displayed a CALRexon 9 mutation. More specifically, mutations were detected in 90 out of 130 (69.23%) essential thrombocythaemia cases (ET), in 18 out of 33 (54.55%) primary myelofibrosis patients (pMF) and in 9 out of 10 (90%) cases of myelofibrosis secondary to ET (post-ET sMF). False positive results were not detected. The limit of detection (LoD) of our protocol was 2%. Furthermore, our study reavealed 6 rare novel mutations which are to be added in the COSMIC database. Conclusions Overall, our method could rapidly and cost-effectively detect the mutation status in a representative cohort of Greek patients; the mutation make-up in our group was not different from what has been published for other national groups.

It has been suggested that myeloid neoplasms with isolated isochromosome 17q[MN i(17q)] comprise a distinct entity with poor prognosis. However, literature reports show a considerable clinical and molecular heterogeneity. We describe a 58-year-old male patient who was diagnosed as refractory anemia with multilineage dysplasia and ringed sideroblasts with isolated i(17q). Though he initially responded well to erythropoietin, he gradually progressed to an aggressive form of MDS/MPN refractory to azacytidine and died 29 months after first diagnosis. Notably, in contrast to disease advancement, his karyotype reverted to normal, whereas his mutational profile remained unchanged. To our knowledge this is the first report of karyotype normalization during disease progression in patients with MN i(17q), suggesting that the i(17q) anomaly is dispensable for the leukemic transformation and highlighting the underlying clinical and molecular complexity which both have to be resolved before the establishment of MN with isolated i(17q) as a distinct entity.