ArticleInternational journal of legal medicine2006
Sudden infant death syndrome and long QT syndrome: an epidemiological and genetic study.
Article in International journal of legal medicine, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed.
- hERG1 channel subunit composition mediates proton inhibition of rapid delayed rectifier potassium current (IThe Journal of biological chemistry · 2023Article
- Functional significance of channelopathy gene variants in unexplained death.Forensic science, medicine, and pathology · 2019Review
- Sudden infant death syndrome and inherited cardiac conditions.Nature reviews. Cardiology · 2017Review
- That's not it, either-neither polymorphisms in PHOX2B nor in MIF are involved in sudden infant death syndrome (SIDS).International journal of legal medicine · 2015Article
- Long QT molecular autopsy in sudden infant death syndrome.Archives of disease in childhood · 2014Article
- [Sonographic screening of basilar arteries reduces the risk of sudden infant death].Der Radiologe · 2013Article
- Sudden twin infant death on the same day: a case report and review of the literature.Forensic science, medicine, and pathology · 2013Review
- Cardiac ion channelopathies and the sudden infant death syndrome.ISRN cardiology · 2012Article
- Genetic analysis of sudden cardiac death victims: a survey of current forensic autopsy practices.International journal of legal medicine · 2011Article
- Gene variants predisposing to SIDS: current knowledge.Forensic science, medicine, and pathology · 2011Review
- A common FMO3 polymorphism may amplify the effect of nicotine exposure in sudden infant death syndrome (SIDS).International journal of legal medicine · 2010Article
- Identification of an ethnic-specific variant (V207M) of the KCNQ1 cardiac potassium channel gene in sudden unexplained death and implications from a knock-in mouse model.International journal of legal medicine · 2009Article
- Contribution of long-QT syndrome genetic variants in sudden infant death syndrome.Pediatric cardiology · 2009Article
- The measurement of the QT and QTc on the neonatal and infant electrocardiogram: a comprehensive reliability assessment.Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, Inc · 2009Article
- Sudden death due to pulmonary embolism from right atrial myxoma.International journal of legal medicine · 2009Article
- Sudden infant death syndrome: do ion channels play a role?Heart rhythm · 2009Review
- Marfan syndrome: clinical consequences resulting from a medicolegal autopsy of a case of sudden death due to aortic rupture.International journal of legal medicine · 2009Article
- Evaluation of postmortem measurement of NT-proBNP as a marker for cardiac function.International journal of legal medicine · 2008Article
- Cardiac potassium channel dysfunction in sudden infant death syndrome.Journal of molecular and cellular cardiology · 2008Article
- Confocal laser scanning microscopy. Using new technology to answer old questions in forensic investigations.International journal of legal medicine · 2008Article
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Authors and funding
11 authors.
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Abstract
Sudden infant death syndrome (SIDS) is a frequent cause of death among infants. The etiology of SIDS is unknown and several theories, including fatal ventricular arrhythmias, have been suggested. We performed an epidemiological and genetic investigation of SIDS victims to estimate the presence of inherited long QT syndrome (LQTS) as a contributor for SIDS. Forty-one consecutively collected and unrelated SIDS cases were characterized by clinical and epidemiological criteria. We performed a comprehensive gene mutation screening with single-strand conformation polymorphism analysis and sequencing techniques of the most relevant LQTS genes to assess mutation frequencies. In vitro characterization of identified mutants was subsequently performed by heterologous expression experiments in Chinese hamster ovary cells and in Xenopus laevis oocytes. A positive family history for LQTS was suspected by mild prolonged Q-T interval in family members in 2 of the 41 SIDS cases (5%). In neither case, a family history of sudden cardiac death was present nor a mutation could be identified after thorough investigation. In another SIDS case, a heterozygous missense mutation (H105L) was identified in the N-terminal region of the KCNQ1 (LQTS 1) gene. Despite absence of this mutation in the general population and a high conservational degree of the residue H105 during evolution, electrophysiological investigations failed to show a significant difference between wild-type and KCNQ1(H105L)/minK-mediated I(Ks) currents. Our data suggest that a molecular diagnosis of SIDS related to LQTS genes is rare and that, even when an ion channel mutation is identified, this should be regarded with caution unless a pathophysiological relationship between SIDS and the electrophysiological characterization of the mutated ion channel has been demonstrated.
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