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Postmortem molecular analysis of scn5a defects in sudden infant death syndrome

Article Abstract:

A mutation in the sodium channel gene called scn5a may be the cause of some cases of sudden infant death syndrome (SIDS). This mutation can cause a heart arrhythmia, even in healthy adults. In a study of 93 tissue samples taken from babies who died of SIDS, two had the mutation.

Author: Towbin, Jeffrey A., Ackerman, Michael J., Siu, Benjamin L., Sturner, William Q., Tester, David J., Valdivia, Carmen R., Makielski, Jonathan C.
Publisher: American Medical Association
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 2001
Sudden infant death syndrome

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Risk of aborted cardiac arrest or sudden cardiac death during adolescence in the long-QT syndrome

Article Abstract:

A study of 2772 participants was conducted to identify risk factors associated with aborted cardiac arrest and sudden cardiac death during adolescence in patients with clinically suspected long-QT syndrome (LQTS). Findings indicate that the timing and frequency of syncope, the degree of QTc prolongation and sex are independent predictors of life-threatening events in adolescents with LQTS.

Author: Napolitano, Carlo, Li Zhang, Towbin, Jeffrey A., Ackerman, Michael J., Moss, Arthur J., Vincent, G. Michael, Benhorin, Jesaia, Robinson, Jennifer L., Hobbs, Jenny B., Peterson, Derick R., McNitt, Scott, Zareba, Wojciech, Goldenberg, Ilan, Ming Qi, Sauer, Andrew J., Kaufman, Elizabeth S., Locati, Emanuela H., Piori, Silvia G.
Publisher: American Medical Association
Publication Name: JAMA, The Journal of the American Medical Association
Subject: Health
ISSN: 0098-7484
Year: 2006
United States, Youth, Patient outcomes, Teenagers, Cardiac arrest, Long QT syndrome, Clinical report

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Molecular diagnosis of the inherited long-QT syndrome in a wome who died after near-drowning

Article Abstract:

A woman who died after a near-drowning incident was found to have the long-QT syndrome. This is a heart arrhythmia that is often caused by a gene mutation affecting channels in heart muscle that transport ions. After exercising at a gym, she swam in the pool and was found face-down at the bottom several minutes later. She was resuscitated, but remained comatose and eventually died. Before her death, she was noted to have long-QT syndrome, and molecular analysis of her heart muscle revealed a gene mutation in the potassium channels. Some accidental drownings may be caused by long-QT syndrome.

Author: Ackerman, Michael J., Tester, David J., Edwards, William D., Porter, Co-Burn J.
Publisher: Massachusetts Medical Society
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 1999
Drowning

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Subjects list: Health aspects, Gene mutations, Gene mutation, Genetic aspects, Arrhythmia, Risk factors
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