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Brugada syndrome (BrS) is a genetic disorder in which the electrical activity of the heart is abnormal due to channelopathy. [2] It increases the risk of abnormal heart rhythms and sudden cardiac death. [2]
Long QT syndrome, the most common form of cardiac channelopathy, is characterized by prolonged ventricular repolarization, predisposing to a high risk of ventricular tachyarrhythmias (e.g., torsade de pointes), syncope, and sudden cardiac death.
Sudden unexplained nocturnal death syndrome may refer to: Brugada syndrome , a genetic disorder in which the electrical activity within the heart is abnormal Sudden arrhythmic death syndrome (SADS), a sudden unexpected death of adolescents and adults, mainly during sleep
Brugada syndrome can result in ventricular fibrillation and potentially death. It is a major cause of sudden unexpected cardiac death in young, otherwise healthy people. [ 11 ] While the characteristic patterns of Brugada syndrome on an electrocardiogram may be seen regularly, often the abnormal pattern is only seen spontaneously due to unknown ...
Long QT syndrome, Brugada syndrome, Andersen-Tawil syndrome, Early repolarization syndrome: Treatment: Avoidance of strenuous exercise, medication, implantable cardioverter defibrillator [2] Medication: Beta-adrenoceptor blockers, Verapamil, Flecainide [2] Prognosis: 13–20% life threatening arrhythmias over 7–8 years [3] Frequency: 1:10,000 [4]
X-linked Opitz G/BBB syndrome XLP syndrome X-linked lymphoproliferative syndrome (see Duncan Disease) XLSA X-linked sideroblastic anemia: XMEA X-linked myopathy with excessive autophagy: XMEN X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia XP Xeroderma pigmentosa: XSCID X-linked severe combined ...
Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a rare, adult-onset, X-linked recessive lower motor neuron disease caused by trinucleotide CAG repeat expansions in exon 1 of the androgen receptor (AR) gene, which results in both loss of AR function and toxic gain of function.
In addition to acquired causes, molecular biology and genetics have given rise to the recognition of various genetic causes. [ 20 ] [ 23 ] A more clinical categorization of cardiomyopathy as 'hypertrophied', 'dilated', or 'restrictive', [ 24 ] has become difficult to maintain because some of the conditions could fulfill more than one of those ...