Brugada syndrome

Brugada syndrome is an inherited cardiac electrical disorder associated with a characteristic electrocardiogram pattern and risk of dangerous ventricular arrhythmias, often despite a structurally normal heart.

Cardiac action potential: The changing electrical voltage across a heart cell’s membrane during activation and recovery. Brugada syndrome alters the currents shaping electrical activity in heart muscle cells.
Brugada pattern: A characteristic electrocardiographic pattern, especially coved ST-segment elevation in the right precordial leads. A type 1 Brugada pattern is central to diagnosing the syndrome.
Implantable cardioverter-defibrillator: An implanted device that detects dangerous heart rhythms and delivers therapy, often an electrical shock, to stop them. It is considered for Brugada patients at high risk of sudden cardiac death.
Pedro and Josep Brugada: Spanish cardiologists who described the characteristic ECG and clinical syndrome in 1992. Their report established Brugada syndrome as a distinct clinical entity.
Incomplete penetrance: The phenomenon in which some people carrying a disease-associated genetic variant do not show the expected phenotype. Some variant carriers never develop a diagnostic ECG pattern or clinical symptoms.
SCN5A: A gene encoding Nav1.5, the principal sodium channel responsible for rapid electrical activation in cardiac muscle. Pathogenic variants in SCN5A are the best-established genetic cause of Brugada syndrome.
Electrocardiography: The recording and interpretation of electrical activity generated by the heart. Brugada syndrome is recognized chiefly through characteristic findings on an ECG.
Quinidine: A class I antiarrhythmic medication that blocks cardiac ion channels and can suppress some ventricular arrhythmias. It can reduce recurrent arrhythmias in selected patients with Brugada syndrome.
Brugada brothers’ 1992 report: A clinical report describing eight patients with right bundle branch block, ST elevation, and sudden cardiac death risk. The report gave the syndrome its first widely recognized clinical description.
Variable expressivity: Differences in the type or severity of features among people with the same genetic condition. Affected relatives can have markedly different ECG findings and arrhythmia risk.

Linked from 4 pages