Archivos de cardiología de México
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Sudden death (SD) is a tragic event and a world-wide health problem. Every year, near 4-5 million people experience SD. SD is defined as the death occurred in 1h after the onset of symptoms in a person without previous signs of fatality. ⋯ Cardiac channelopathies are a group of diseases characterized by abnormal ion channel function due to genetic mutations in ion channel genes, providing increased susceptibility to develop cardiac arrhythmias and SD. Usually the death occurs before 40 years of age and in the autopsy the heart is normal. In this review we discuss the main cardiac channelopathies involved in sudden cardiac death along with current management of cases and family members that have experienced such tragic event.
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Review Case Reports
[Genetic and molecular basis for sodium channel-mediated Brugada syndrome].
Brugada syndrome is a genetic disease that is characterized by abnormal electrocardiogram findings and an increased risk of sudden cardiac death. This syndrome is linked to mutations in the SCN5A gene in approximately 20% of Brugada syndrome probands. ⋯ Transmission of the disease shows an autosomal dominant inheritance pattern. This brief review focuses on a reported case of sodium channel-mediated Brugada syndrome, guiding the reader through the process of identification of the genetic variants responsible for the clinically-diagnosed syndrome, mutagenesis to clone SCN5A with and without the 2 variants identified and transfection of the 2 variants into TSA201 cells to determine the functional consequence of these genetic variants on sodium channel expression and function.
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Review Comparative Study
[Wolff-Parkinson-White syndrome in Ebstein's anomaly].
The abnormal development of the tricuspid valve in patients with Ebstein's anomaly results in several activation abnormalities including delayed intraatrial conduction, right bundle branch block, and ventricular preexcitation. In the present review, the aim was to define the ECG characteristics before and after ablation of an accessory A-V pathway in patients with Ebstein's anomaly. In a series of 224 patients studied at the Instituto Nacional de Cardiologia "Ignacio Chávez", Sixty-four patients (28%) had documented tachycardia. ⋯ The absence of RBBB in patients with Ebstein's anomaly and recurrent tachycardia had a 98% sensitivity and 92% specificity for the diagnosis of an AP. One third of patients with Ebstein's anomaly and symptomatic tachyarrhythmias have minimal or absent ECG features of ventricular preexcitation. In these patients, the absence of RBBB pattern is a strong predictor of an AP.
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Review Comparative Study
[Reperfusion and postconditioning in acute ST segment elevation myocardial infarction. A new paradigm for the treatment of acute myocardial infarction. From bench to bedside?].
After prolonged periods of ischemia and energy depletion, the ischemic myocardial cell can be jeopardized by specific causes within the reperfusion period. These causes can be viewed as unwanted aspects of the recovery process itself limiting its efficiency. Three potential initial causes of immediate reperfusion injury, aside from oxygen radicals, have been experimentally investigated in detail, and are briefly discussed: 1. re-energization; 2. rapid normalization of tissue pH; and 3. rapid normalization of tissue osmolality. ⋯ It has been reported very recently, that postconditioning patients with ST segment elevation AMI, during coronary angioplasty protects the human heart in this clinical scenario. Obtaining such a beneficial effect by a simple manipulation of reperfusion is of major potential clinical interest. Now more than ever, mechanistic and pharmacological research in the field of reperfusion injury appears to be necessary and clinically relevant.
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Stent implantation was developed to overcome the acute recoil and high restenosis rate of balloon angioplasty, but resulted in the development of chronic in-stent restenosis related to specific factors regarding patient, stent, lesion and procedural characteristics. Some factors are not modifiable, such as patient and lesion characteristics, whereas procedural characteristics may be improved by better implantation technique and stent design. Drug-eluting stents are a novel approach in stent technology and design with local drug delivery to inhibit intimal thickening by interfering with different pathways involved in the development of inflammation, migration, proliferation and/or secretion of the extracellular matrix. ⋯ Currently, alterations on stent-backbone design (biodegradable, bioabsorbable, nanoporous etc.) are being explored. Clearly, the anti-proliferative compounds sirolimus and paclitaxel have dominated up to date clinical practice, whereas their analogues are readily emerging. In the future, however, it is likely that drugs, currently under investigation, will address additional mechanisms associated with neointimal formation leading to restenosis, either as single agents or in combination with anti-proliferative compounds.