Naxos Disease and Related Cardio-Cutaneous Syndromes.

Naxos disease is a rare autosomal recessive condition combining arrhythmogenic right ventricular cardiomyopathy, woolly hair, and palmoplantar keratoderma. The first identified causative variant was in the gene encoding the desmosomal protein plakoglobin. Naxos disease exhibits fibro-fatty myocardial replacement with immunohistological abnormalities in cardiac protein and signaling pathways, highlighting the role of inflammation and potential anti-inflammatory treatments.

Importance of genotype for risk stratification in arrhythmogenic right ventricular cardiomyopathy using the 2019 ARVC risk calculator.

Aims: To study the impact of genotype on the performance of the 2019 risk model for arrhythmogenic right ventricular cardiomyopathy (ARVC).

Methods And Results: The study cohort comprised 554 patients with a definite diagnosis of ARVC and no history of sustained ventricular arrhythmia (VA). During a median follow-up of 6.

Sudden unexplained death in the young: epidemiology, aetiology and value of the clinically guided genetic screening.

Aims: To determine the incidence and the causes of sudden death (SD) in persons aged 1-35 years old and the diagnostic yield of clinically guided genetic screening in the sudden arrhythmic death syndrome (SADS) victims' families.

Methods And Results: Incidence and causes of SD in the Attica region of Greece in 2002-10 were determined using death certificates and autopsy reports. We evaluated clinically consecutive families of SADS victims and if a clinical diagnosis was established, we proceeded to targeted genetic analysis.

Clinical Significance of Epsilon Waves in Arrhythmogenic Cardiomyopathy.

Introduction: Epsilon waves are hallmark features of arrhythmogenic cardiomyopathy (ACM) but information about their clinical significance is variable. We evaluated epsilon wave prevalence, characteristics, and their clinical significance in an ACM population.

Methods And Results: Eighty-six unselected patients fulfilling the 2010 Task Force criteria were enrolled.

Arrhythmic risk assessment in genotyped families with arrhythmogenic right ventricular cardiomyopathy.

Aims: Arrhythmogenic right-ventricular cardiomyopathy (ARVC) is a genetically determined disorder, mostly caused by mutations in genes encoding desmosomal proteins. We evaluated phenotype/genotype characteristics to predict the risk for the first major arrhythmic event in desmosomal-mutation-associated ARVC families.

Methods And Results: A cohort of 105 desmosomal-mutation carriers belonging to 39 consecutive ARVC families was evaluated.

The Greek version of the 9-item European Heart Failure Self-care Behaviour Scale: a multidimensional or a uni-dimensional scale?

Objectives: To evaluate the dimensionality of the Greek version of the European Heart Failure Self-care Behaviour Scale (Gr9-EHFScBS) in a Greek-Cypriot population.

Background: EHFScBS is a valid and reliable scale which is widely used for assessing heart failure (HF) patients' self-care behaviors.

Methods: EHFScBS was translated into Greek and was administered to 128 Greek-Cypriot HF patients.

Epidemiology of acute coronary syndromes in the Mediterranean island of Cyprus (CYPACS study, Cyprus study of acute coronary syndromes).

Introduction: So far, no studies have been performed regarding the epidemiology and management of acute coronary syndromes (ACS) in Cyprus. The aim of the present study was to enroll a representative sample of patients in order to study the epidemiology and management of ACS in the Mediterranean island of Cyprus.

Methods: For a period of 12 months, all patients admitted to Nicosia General Hospital with an ACS were studied.

Reperfusion therapy for ST elevation acute myocardial infarction 2010/2011: current status in 37 ESC countries.

Aims: Primary percutaneous coronary intervention (PPCI) is the preferred reperfusion therapy in ST-elevation myocardial infarction (STEMI). We conducted this study to evaluate the contemporary status on the use and type of reperfusion therapy in patients admitted with STEMI in the European Society of Cardiology (ESC) member countries.

Methods And Results: A cross-sectional descriptive study based on aggregated country-level data on the use of reperfusion therapy in patients admitted with STEMI during 2010 or 2011.

[Conflict of interest policies and disclosure requirements among European Society of Cardiology national cardiovascular journals].

Disclosure of potential conflicts of interest is used by biomedical journals to guarantee credibility and transparency of the scientific process. Conflict of interest disclosure, however, is not systematically nor consistently dealt with by journals. Recent joint editorial efforts paved the way towards the implementation of uniform vehicles for conflicts of interest disclosure.

Homocysteine levels and MTHFR polymorphisms in young patients with acute myocardial infarction: a case control study.

Introduction: Increased levels of homocysteine are known to be associated with coronary artery disease (CAD). The most common form of genetic hyperhomocysteinemia results from MTHFR polymorphisms. To examine the role of homocysteine levels and MTHFR polymorphisms in premature CAD and acute myocardial infarction (MI) in the Cypriot population, a case control study was performed in Nicosia General Hospital.

Arrhythmogenic right ventricular cardiomyopathy/dysplasia on the basis of the revised diagnostic criteria in affected families with desmosomal mutations.

Aims: To evaluate arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) in affected families with desmosome mutations on the basis of the recently revised Task Force Criteria (TFC).

Methods And Results: One hundred and three consecutive carriers of pathogenic desmosome mutations and 102 mutation-negative relatives belonging to 22 families with dominant and 14 families with recessive ARVC/D were evaluated according to the original and revised TFC. Serial cardiac assessment with 12-lead, signal-averaged, and 24 h ambulatory ECG and two-dimensional echocardiography was performed.

A penetrating heart injury resulting in ventricular septal defect.

Penetrating heart injuries can be lethal. Here we report a case of self-inflicted cardiac injury with glass fragments by a psychiatric patient. The patient presented with cardiogenic shock and was initially treated surgically for a large pneumothorax and cardiac tamponade.

Cardiac hemangioma in the left ventricle and brief review of the literature.

Cardiac hemangiomas are very rare benign cardiac tumors. They can present at any age and clinical presentation varies according to location and size. Most common symptoms include shortness of breath, palpitations, atypical chest pain and arrhythmia.

Primary cardiac lymphoma: case report and brief review of the literature.

Primary cardiac lymphoma is defined as a non-Hodgkin's lymphoma mainly located in the heart and/or the pericardium. It is rare and affects elderly men. Common manifestations are pericardial effusion and heart failure.

Malignant mutation in the lamin A/C gene causing progressive conduction system disease and early sudden death in a family with mild form of limb-girdle muscular dystrophy.

Background: Lamin proteins A and C are major functional and structural components of the nuclear lamina. Mutations of the LMNA gene have been associated with dilated cardiomyopathy, conduction system defects and skeletal muscle dystrophy simultaneously, in variable involvement. We report on a family with a mutation of the lamin A/C gene (c.