Sudden unexplained death (SUD), autopsy-negative deaths occurring after the first year of life, and sudden infant death syndrome (SIDS), deaths occurring in the first year of life, both present major challenges for the medical profession. Tester and Ackerman has presented compelling data implicating a cardiac channelopathy as the pathogenic basis SUDs, with mutations related to long QT syndrome (LQTS). They have revealed that at least one-third of sudden and unexplained deaths in the young have a genetic origin attributable to two life-threatening conditions, LQTS, and catecholaminergic ventricular tachycardia (CPVT). The ECG screening of family members can identify other affected family members with QT prolongation, and genotyping of the proband would allow the recognition of silent mutation carriers within the extended families.
Schwartz, P., Crotti, L. (2007). Can a message from the dead save lives?. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 49(2), 247-249 [10.1016/j.jacc.2006.10.009].
Can a message from the dead save lives?
Crotti LUltimo
2007
Abstract
Sudden unexplained death (SUD), autopsy-negative deaths occurring after the first year of life, and sudden infant death syndrome (SIDS), deaths occurring in the first year of life, both present major challenges for the medical profession. Tester and Ackerman has presented compelling data implicating a cardiac channelopathy as the pathogenic basis SUDs, with mutations related to long QT syndrome (LQTS). They have revealed that at least one-third of sudden and unexplained deaths in the young have a genetic origin attributable to two life-threatening conditions, LQTS, and catecholaminergic ventricular tachycardia (CPVT). The ECG screening of family members can identify other affected family members with QT prolongation, and genotyping of the proband would allow the recognition of silent mutation carriers within the extended families.File | Dimensione | Formato | |
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