Molecular diagnostics of cardiovascular diseases in sudden unexplained death

Cardiovascular Pathology

Volumn 23, Issue 1, 2014, Pages 1-4

  Tang, Yingying ^a   Stahl Herz, Jay ^a   Sampson, Barbara A ^a  

^a Office of Chief Medical Examiner New York   (United States)

Author keywords

Cardiac channelopathies; Cardiomyopathies; Molecular diagnostics; Sudden unexplained cardiac death

Indexed keywords

CAVEOLIN 3; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR2.1; POTASSIUM CHANNEL KCNQ1; SODIUM CHANNEL NAV1.5; VOLTAGE GATED SODIUM CHANNEL BETA 1 SUBUNIT; VOLTAGE GATED SODIUM CHANNEL BETA 3 SUBUNIT;

ARTICLE; AUTOPSY; BRUGADA SYNDROME; CARDIAC CHANNELOPATHY; CARDIOMYOPATHY; CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA; CONGESTIVE CARDIOMYOPATHY; DIAGNOSTIC TEST ACCURACY STUDY; DNA DETERMINATION; ELECTRIC CONDUCTIVITY; GENE MUTATION; GENETIC SCREENING; HEART; HEART ARRHYTHMIA; HEART ATRIUM FIBRILLATION; HEART MUSCLE CELL; HEART RIGHT VENTRICLE DYSPLASIA; HIGH THROUGHPUT SEQUENCING; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; LONG QT SYNDROME; LONG QT SYNDROME 2; MOLECULAR DIAGNOSIS; MOLECULAR DIAGNOSTICS; PATHOLOGIST; PRIORITY JOURNAL; SHORT QT SYNDROME; SUDDEN CARDIAC DEATH; SUDDEN DEATH; VENTRICULAR NONCOMPACTION;

CARDIAC CHANNELOPATHIES; CARDIOMYOPATHIES; MOLECULAR DIAGNOSTICS; SUDDEN UNEXPLAINED CARDIAC DEATH;

AUTOPSY; CARDIOMYOPATHIES; CHANNELOPATHIES; DEATH, SUDDEN, CARDIAC; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HUMANS; ION CHANNELS; MOLECULAR DIAGNOSTIC TECHNIQUES; PREDICTIVE VALUE OF TESTS;

EID: 84890123850     PISSN: 10548807     EISSN: 18791336     Source Type: Journal    
DOI: 10.1016/j.carpath.2013.09.002     Document Type: Article

References (23)

1. AS Go Heart disease and stroke statistics-2013 update: a report from the American Heart Association Circulation 127 1 2013 e6 e245
2. DL Hoyert, and J Xu Deaths: Preliminary data for 2011 Natl Vital Stat Rep 61 6 2012 1 7
3. Tang Y, Siegel D, Sampson B. Molecular Investigations of Sudden Unexplained Deaths. Acad For Path, 2011. 2(1): p. b-f.
4. MJ Ackerman HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA) Heart Rhythm 8 8 2011 1308 1339
5. Alders M, Mannens MMAM. Romano-Ward Syndrome. 2003 Feb 20 [Updated 2012 May 31]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1129/
6. JR Giudicessi, and MJ Ackerman Genetic testing in heritable cardiac arrhythmia syndromes: differentiating pathogenic mutations from background genetic noise Curr Opin Cardiol 28 1 2013 63 71
7. G Stelzer In-silico human genomics with GeneCards Hum Genomics 5 6 2011 709 717
8. Wang D, Shah K, Um S, Eng L, Zhou B, Lin Y, Mitchell A, Nicaj L, Prinz M, McDonald TV, Sampson BA, Tang Y. Novel Insights from Molecular Cardiac Channelopathy Testing of 274 Ethnically Diverse Sudden Unexplained Deaths. submitted, 2013.
9. DJ Tester Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing Mayo Clin Proc 87 6 2012 524 539
10. M Arnestad Prevalence of long-QT syndrome gene variants in sudden infant death syndrome Circulation 115 3 2007 361 367
11. ER Behr Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families Eur Heart J 29 13 2008 1670 1680
12. Cirino AL, Ho C. Familial Hypertrophic Cardiomyopathy Overview. 2008 Aug 5 [Updated 2011 May 17]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1768/
13. McNally E, MacLeod H, Dellefave L. Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant. 2005 Apr 18 [Updated 2009 Oct 13]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1131/
14. NK Lakdawala Genetic testing for dilated cardiomyopathy in clinical practice J Card Fail 18 4 2012 296 303
15. M Pasotti Long-term outcome and risk stratification in dilated cardiolaminopathies J Am Coll Cardiol 52 15 2008 1250 1260
16. S Kapa Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants Circulation 120 18 2009 1752 1760
17. N Norton Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy Circ Cardiovasc Genet 6 2 2013 144 153
18. EM Coonrod Developing genome and exome sequencing for candidate gene identification in inherited disorders: an integrated technical and bioinformatics approach Arch Pathol Lab Med 137 3 2013 415 433
19. I Schrijver Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology J Mol Diagn 14 6 2012 525 540
20. CS Richards ACMG recommendations for standards for interpretation and reporting of sequence variations: revisions 2007 Genet Med 10 4 2008 294 300
21. J Chen A dual mechanism for I(Ks) current reduction by the pathogenic mutation KCNQ1-S277L Pacing Clin Electrophysiol 34 12 2011 1652 1664
22. Y Krishnan Partially dominant mutant channel defect corresponding with intermediate LQT2 phenotype Pacing Clin Electrophysiol 35 1 2012 3 16
23. X Koenig Voltage-gated ion channel dysfunction precedes cardiomyopathy development in the dystrophic heart PLoS One 6 5 2011 e20300