Genetic sudden cardiac death syndromes
Genetic Determinants of Sudden Cardiac Death | Circulation
The symptoms of genetic arrhythmias (like LQTS) are frequently misdiagnosed as vasovagal syncope, asthma or epilepsy without any cardiac evaluation. Thus, the opportunity to diagnose and treat LQTS and related disorders is missed. Most cardiac arrhythmias and structural defects that may cause sudden death in the young are treatable.
Running title: Exome sequencing analysis of SUDEP
The Jervell-Lange-Nielsen syndrome – the combination of a long QT interval and congenital deafness was the first of the Long QT syndromes to be described in 195721. Finally a comprehensive family history should be taken. A family history of LQTS or unexplained sudden cardiac death raises the likelihood of the index case having LQTS.
[DOCX File]Long QT syndrome - Mark Dayer
https://info.5y1.org/genetic-sudden-cardiac-death-syndromes_1_e423f7.html
Long QT syndrome may be caused by mutations in cardiac sodium channels. Acquired and inherited long QT syndromes may both cause ventricular arrhythmias arid may have a similar molecular basis. 35. Familial hypertrophic cardiomyopathy (HOCM) is a disorder largely affecting cardiac myocytes.
[DOCX File]GeneDx
https://info.5y1.org/genetic-sudden-cardiac-death-syndromes_1_c0710b.html
These syndromes cause cardiac arrhythmias in seemingly healthy and often young individuals and can lead to syncope, seizures, cardiac arrest, and sudden death. LQTS and Brugada Syndrome are two of the more common causes of sudden death in young people, resulting in 2,000 to 3,000 deaths per year.
[DOC File]Date:
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replacement of the right ventricular myocardium are pathognomonic hallmarks of ARVC, which predispose to ventricular tachyarrhythmia and sudden cardiac death (SCD). Clinical findings are limited to the heart in most individuals, although there are some genetic syndromes associated with ARVC and other clinical findings.
[DOC File]Sample Letter of Medical Necessity - SADS
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EEG monitoring. 12. Post-mortem genetic testing of three genes that account for 70% of LQTS (KCNH2, KCNQ1, and . SCN5A), is important in autopsy-negative sudden unexpected death.
[DOC File]The Sudden Arrhythmia Death Syndromes (SADS) Foundation
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Knowledge of this patient's genetic information is important for me to accurately assess his risk for sudden cardiac death and will guide my recommendations for his care. Genetic testing for Brugada syndrome has been clearly recommended in scientific guidelines published by …
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