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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.
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 ...
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 immunodeficiency: XXX syndrome ...
Long QT syndrome is estimated to affect 1 in 7,000 people. [6] Females are affected more often than males. [6] Most people with the condition develop symptoms before they are 40 years old. [6] It is a relatively common cause of sudden death along with Brugada syndrome and arrhythmogenic right ventricular dysplasia. [3]
The current American Heart Association (AHA) definition divides cardiomyopathies into primary, which affect the heart alone, and secondary, which are the result of illness affecting other parts of the body. These categories are further broken down into subgroups which incorporate new genetic and molecular biology knowledge.
Antley–Bixler syndrome: Barth syndrome: Brugada syndrome: Cantú syndrome: genetic (Chromosome 12, autosomal dominant) Cardiac syndrome X: Cardiorenal syndrome: Kidney Cat eye syndrome: CHARGE syndrome: Coffin–Lowry syndrome: genetic (RPS6KA3 gene mutation, Chromosome X) Costello syndrome: Down syndrome: genetic (Chromosome 21) Dressler ...
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.