A novel SCN5A deletion mutation in a child with ventricular tachycardia, recurrent aborted sudden death, and Brugada electrocardiographic pattern / Descripción de una nueva mutación (deleción) en el gen SCN5A en un niño con taquicardia ventricular, riesgo de muerte súbita, y cuadro electrocardiográfico de Brugada

A novel SCN5A mutation was found in a child with congenital sick sinus disease, a Brugada-like electrocardiogram and recurrent aborted sudden death. The mutation (L1821fs/10) is a 4 base pair deletion (TCTG) at position 5464-5467 in exon 28 of the gene. The novel mutation is predicted to produce a frameshift leading to a premature stop codon after ten missense amino acids upstream that did not allow the generation of the complete protein, and probably producing an incomplete and therefore non functional protein. The resulting alteration in sodium current could explain the clinical phenotype observed in this patient.

Bases moleculares de la insuficiencia cardíaca / Molecular bases of heart failure

Heart failure (HF) is a complex pathophysiologic state in which delivery of blood and nutrients is inadequate for tissue requirements. HF almost always arises in patients with previous cardiovascular disease such as acute myocardial infarction, atherosclerosis, cardiomyopathy, myocarditis, congenital malformations, or valvular disease. Recently, substantial progress has been made to understand the etiology, pathogenesis, and mechanisms of HF. Several inter-related mechanisms such as oxidative stress, signal transduction, abnormalities in intracellular calcium handling, mitochondrial dysfunction and inherited mutations have been proposed as the triggers of HF.