Sudden cardiac death (SCD) is the nontraumatic death, due to loss of heart function that occurs suddenly and unexpectedly within 6 hours of a previously normal state of health. It is related to intense competitive sports promoting ventricular tachycardia (VT)/ventricular fibrillation (VF) in the presence of underlying abnormal substrate. A serial evaluation of cardiac physiologic changes taking place during training will allow the better understanding of athlete's heart and will facilitate its discrimination from other grey-zone cardiomyopathies. According to the ESC recommendations, a pre-participation evaluation should include medical history, physical examination as well as a 12-lead electrocardiogram (ECG). Additional tests, such as echocardiography, 24-hours Holter monitoring, stress testing and cardiovascular magnetic resonance (CMR) should be requested upon positive findings at the initial evaluation. Cardiovascular magnetic resonance can be of great value in the differential diagnosis between various cardiomyopathies including hypertrophic cardiomyopathy (HCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), left ventricle noncompaction cardiomyopathy (LVNC) and athlete's heart. This is due to its great versatility that can provide reliable and reproducible anatomical, functional and tissue characterization information, which are operator and acoustic window independent.

The Spexin gene is considered the most dysregulated in obese human fat. Limited data suggest that the novel peptide spexin may potentially impact food intake, weight regulation and body adiposity. The aim of this case-control study was to compare fasting serum spexin concentrations between normal weight (NW) and overweight/obese (OB/OW) adolescent females and explore the relationship between circulating spexin and anthropometric, bone and fat mass, metabolic and hormonal parameters. Eighty post-menarcheal females (mean age ± SD 16.23 ± 2.26 years); 55 NW (mean BMI ± SD 19.72 ± 2.52 kg/m2) and 25 OB/OW (mean BMI ± SD 29.35 ± 3.89 kg/m2) participated in the study. Circulating spexin levels did not differ significantly (p = 0.378) between NW (median (interquartile range), 0.26 (0.17) ng/mL) and OB/OW (median (interquartile range), 0.28 (0.06) ng/mL) adolescents and did not correlate with BMI (rs = −0.090, p = 0.438), % body fat (rs = −0.173, p = 0.409), glucose or insulin resistance indices derived from fasting and oral glucose tolerance states. In the total study sample, spexin concentrations correlated positively with lipoprotein(a) (rs = 0.402, p = 0.046). In the OB/OW adolescents spexin levels correlated positively with testosterone (rs = 0.727, p = 0.011) and free androgen index (rs = 0.755, p = 0.007). In the NW adolescents, spexin concentrations correlated negatively with dehydroepiandrosterone sulphate (rs = −0.445, p = 0.038). Results may suggest potential involvement of spexin in the regulation of lipoprotein(a) and of the reproductive/adrenal axis in post-menarcheal adolescent females.

Girls with mucopolysaccharidoses need monitoring for evolving gynaecological problems in order to improve their quality of life.