p.Gly262AlafsTer98: A New Threatening Variant Associated with Long QT Syndrome in a Spanish Cohort.

Long QT syndrome (LQTS) is an inherited (autosomal dominant) channelopathy associated with susceptibility to ventricular arrhythmias due to malfunction of ion channels in cardiomyocytes, that could lead to sudden death (SD). Most pathogenic variants are in the main 3 genes: , and . Efforts to improve the understanding of the genotype-phenotype relationship are essential to improve the medical clinical practice.

ECG as a part of the preparticipation screening programme: an old and still present international dilemma.

Introduction: Long-term Italian experience has provided evidence that preparticipation screening in competitive athletes with 12-lead ECG, history and physical examination is effective in identifying potentially lethal cardiovascular diseases. However, it is not being routinely practised in other countries.

Objectives: To evaluate the usefulness of a preparticipation screening programme in a sample of players belonging to different disciplines.

Hypertrophic cardiomyopathy and athlete's heart: a tale of two entities.

Sudden death during sports activities, although unfrequent, is a tragic event with great impact on both the general and medical communities. The two commonest conditions leading to sudden cardiac death in young athletes are hyperthrophic cardiomyopathy (HCM), the main cause in the USA, and arrythmogenic right ventricular cardiomyopathy, which is the leading cause in Europe. We report the case of a 17-year-old football player with a pathological electrocardiography (ECG) in the pre-participation screening programme, highly suggestive of HCM, in which ECG study showed a septum thickness of 28 mm.

Post-traumatic pseudoaneurysm producing coronary milking.

Left ventricular pseudoaneurysm is a rare complication of myocardial infarction, but it may also result from cardiac surgery, endocarditis, chest trauma, tumours, electrophysiological studies and congenital defects. An accidentally discovered uncommon case of a post-traumatic pseudoaneurysm that produced a selective compression of the circumflex coronary artery during systole is reported.

ABCA1 polymorphisms and prognosis after myocardial infarction in young patients.

High-density cholesterol (HDL) levels are affected by genetic influences and certain behaviors. Low levels of HDL-C are considered as an independent risk factor for premature coronary heart disease. In patients with Tangier disease, characterised by low HDL levels, mutations in the ATP binding cassette transporter have been described.

Plasma lipids, HDL and apolipoproteins, and coronary heart disease in men less than 50 years old. A case-control study.

Objective: To determine the predictive value of lipoproteins for early coronary heart disease in men less than 50 years old from southern Europe.

Methods And Results: One hundred and fifty-seven men less than 50 years old were consecutively evaluated for symptoms of coronary heart disease in a tertiary referral hospital. A group of 415 male miners with mean age of 41 +/- 8 years without clinical or electrocardiographic evidence of coronary disease served as controls.