Overrepresentation of the proarrhythmic, sudden death predisposing sodium channel polymorphism S1103Y in a population-based cohort of African-American sudden infant death syndrome

Norstrand, David W. Van; Tester, David J.; Ackerman, Michael J.

doi:10.1016/j.hrthm.2008.02.012

Cited by 61 publications

(49 citation statements)

References 23 publications

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“…Plant et al found an overrepresentation of this mutation in a cohort of 133 SIDS cases, suggesting a 24-fold increased risk for SIDS in infants with the YY genotype [49], while another study found that 22.5% of the investigated SIDS cases had the heterozygous SY genotype [52]. The authors showed that Y1103 channels demonstrated abnormal function when subjected to low intracellular pH, in comparison to S1103 channels [49].…”

Section: Cardiac Arrhythmiamentioning

confidence: 97%

“…The SCN5A S1103Y mutation has been reported to be of special importance in African-American SIDS cases [49,52]. Plant et al found an overrepresentation of this mutation in a cohort of 133 SIDS cases, suggesting a 24-fold increased risk for SIDS in infants with the YY genotype [49], while another study found that 22.5% of the investigated SIDS cases had the heterozygous SY genotype [52].…”

Section: Cardiac Arrhythmiamentioning

confidence: 99%

“…Several papers have investigated LQT related genes in SIDS cases [42][43][44][45][46][47][48][49][50][51][52][53][54][55]. Many of these have included only small numbers of SIDS cases [42,43,[45][46][47]53], but from the investigation of SIDS cohorts [44, 49-52, 54, 55], it may be assumed that 5-10% of the cases originally diagnosed as SIDS are either due to LQTS, or have mutations or functional polymorphisms in LQT genes that may represent a predisposing factor that may be lethal in combination with other risk factors such as hypoxemia [3].…”

Section: Cardiac Arrhythmiamentioning

confidence: 99%

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Gene variants predisposing to SIDS: current knowledge

Opdal

Rognum

2010

Forensic Sci Med Pathol

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Genetic risk factors play a role in sudden unexpected infant death; either as a cause of death, such as in cases with medium-chain acyl-coenzyme A dehydrogenase deficiency and cardiac arrest due to long QT syndrome, or as predisposing factors for sudden infant death syndrome (SIDS). Most likely genetic predisposition to SIDS represent a polygenic inheritance pattern leading to sudden death when combined with other risk factors, such as a vulnerable developmental stage of the central nervous system and/or the immune system, in addition to environmental risk factors, such as a common cold or prone sleeping position. Genes involved in the regulation of the immune system, cardiac function, the serotonergic network and brain function and development have so far emerged as the most important with respect to SIDS. The purpose of the present paper is to survey current knowledge on SIDS and possible genetic contributions.

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Section: Cardiac Arrhythmiamentioning

confidence: 97%

Section: Cardiac Arrhythmiamentioning

confidence: 99%

Section: Cardiac Arrhythmiamentioning

confidence: 99%

See 1 more Smart Citation

Gene variants predisposing to SIDS: current knowledge

Opdal

Rognum

2010

Forensic Sci Med Pathol

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“…[11][12][13] In this regard, although the risk of African American race may reflect a particularly high burden of extrinsic risk factors, eg, bed-sharing, 14,15 in this population, we chose to place emphasis on the role of possible (intrinsic) genetic polymorphisms that may increase risk relative to race itself. 16,17 Information about every risk factor was not available in every case.…”

Section: Figurementioning

confidence: 99%

Risk Factor Changes for Sudden Infant Death Syndrome After Initiation of Back-to-Sleep Campaign

et al. 2012

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OBJECTIVE: To test the hypothesis that the profile of sudden infant death syndrome (SIDS) changed after the Back-to-Sleep (BTS) campaign initiation, document prevalence and patterns of multiple risks, and determine the age profile of risk factors. METHODS: The San Diego SIDS/Sudden Unexplained Death in Childhood Research Project recorded risk factors for 568 SIDS deaths from 1991 to 2008 based upon standardized death scene investigations and autopsies. Risks were divided into intrinsic (eg, male gender) and extrinsic (eg, prone sleep). RESULTS: Between 1991–1993 and 1996–2008, the percentage of SIDS infants found prone decreased from 84.0% to 48.5% (P < .001), bed-sharing increased from 19.2% to 37.9% (P < .001), especially among infants <2 months (29.0% vs 63.8%), prematurity rate increased from 20.0% to 29.0% (P = .05), whereas symptoms of upper respiratory tract infection decreased from 46.6% to 24.8% (P < .001). Ninety-nine percent of SIDS infants had at least 1 risk factor, 57% had at least 2 extrinsic and 1 intrinsic risk factor, and only 5% had no extrinsic risk. The average number of risks per SIDS infant did not change after initiation of the BTS campaign. CONCLUSIONS: SIDS infants in the BTS era show more variation in risk factors. There was a consistently high prevalence of both intrinsic and especially extrinsic risks both before and during the Back-to-Sleep era. Risk reduction campaigns emphasizing the importance of avoiding multiple and simultaneous SIDS risks are essential to prevent SIDS, including among infants who may already be vulnerable.

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“…78,79 It was also found to be enriched in a set of SIDS cases of African American descent. 80,81 This variant is thought to promote arrhythmia susceptibility during exposure to extrinsic factors such as QTprolonging medication or acquired cardiac disease, in line with a multihit pathogenesis for cardiac arrhythmia. Collaborative studies led by the groups of Professors Ackerman and Makielski show the biophysical consequences of this polymorphism.…”

Section: Common Variants In the Scn5a Coding Regionmentioning

confidence: 99%

Role of Rare and Common Genetic Variation in SCN5A in Cardiac Electrical Function and Arrhythmia

Barc

Bezzina

2014

Cardiac Electrophysiology Clinics

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Overrepresentation of the proarrhythmic, sudden death predisposing sodium channel polymorphism S1103Y in a population-based cohort of African-American sudden infant death syndrome

Abstract: Background-The S1103Y-SCN5A polymorphism has been implicated as a pro-arrhythmic, sudden death predisposing risk factor in African Americans including one postmortem investigation of African American infants with sudden infant death syndrome (SIDS).

Cited by 61 publications

References 23 publications

Gene variants predisposing to SIDS: current knowledge

Gene variants predisposing to SIDS: current knowledge

Risk Factor Changes for Sudden Infant Death Syndrome After Initiation of Back-to-Sleep Campaign

Role of Rare and Common Genetic Variation in SCN5A in Cardiac Electrical Function and Arrhythmia

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