Life-saving automated external defibrillation in a teenager: a case report.

Background: Adolescent sudden death during sport participation is commonly due to cardiac causes. Survival is more likely when an automated external defibrillator (AED) is used soon after collapse.

Case Presentation: We describe a case of sudden death in a 14 year old boy with two remarkable points, successful resuscitation at school using an AED and diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC).

Strontium oral load test in children with idiopathic hypercalciuria.

Increased intestinal calcium absorption may play an important role in the pathogenesis of idiopathic hypercalciuria in children. Calcium absorption was assessed by an oral strontium load test in 22 prepubertal children (13 male) with idiopathic hypercalciuria, urinary calcium excretion 6.48 +/- 0.

[Direct detection of malignant mutations in patients with hypertrophic cardiomyopathy].

We determined the prevalence of mutations considered malignant in the genes for beta-myosin heavy chain (MYH7, 11 mutations) and troponin T (TNNT2, 5 mutations) in 30 patients with hypertrophic cardiomyopathy aged 18 to 60 years, 83% of whom had familial antecedents of hypertrophic myocardiopathy or sudden death. Mutations were identified with polymerase chain reaction followed by restriction enzyme digestion and agarose gel electrophoresis. Direct analysis identified 16 mutations in 2 of the 30 patients (7%): one women diagnosed at the age of 25 years as carrying the MYH7453cysteine mutation, and a 60-year-old women with the TNNT2278 cysteine mutation.