Ani Kardiyak Ölümlerde Moleküler Otopsinin Önemi; Timothy Sendromu

Yazarlar

Çetin Lütfi Baydar
Abdulkadir Yıldız

Özet

Referanslar

Hayashi M, Shimizu W, Albert CM. The spectrum of epidemiology underlying sudden cardiac death. Circ res 2015;116(12):1887-906.

Fernández-Falgueras A, Sarquella-Brugada G, Brugada J, et al. Cardiac channelopathies and sudden death: recent clinical and genetic advances. Biology. 2017;6(1):7.

Basso C, Aguilera B, Banner J, et al. Guidelines for autopsy investigation of sudden cardiac death: 2017 update from the Association for European Cardiovascular Pathology. Virchows Arch. 2017;471(6):691-705.

Ding Z, Yang M, Wang Y, et al. Retrospective analysis of 769 cases of sudden cardiac death from 2006 to 2015: a forensic experience in China. Forensic Sci Med Pathol. 2017;13(3):336-41.

Rao D, Sood D, Pathak P, et al. A cause of sudden cardiac deaths on autopsy findings; a four-year report. Emerg. 2014;2(1):12.

Wang H, Yao Q, Zhu S, et al. The autopsy study of 553 cases of sudden cardiac death in Chinese adults. Heart Vessels. 2014;29(4):486-95.

Wu Q, Zhang L, Zheng J, et al. Forensic pathological study of 1656 cases of sudden cardiac death in southern China. Medicine. 2016;95(5).

Barranco R, Vernazza N, Ventura F. Forensic pathological study of 334 cases of sudden cardiac death in Genoa (Italy) district. A seven-year report. Rom J Leg Med. 2019;27(1):10-5.

Ifteni P, Barabas B, Gavris C, et al. Sudden cardiac death: autopsy findings in 7200 cases between 2001 and 2015. Am J Forensic Med Pathol. 2017;38(1):49-53.

Yildiz A, Gürpinar SS, Yagci FE et al. Retrospective Analysis of Sudden Cardiac Deaths in a 10-Year Autopsy Series in the City of Isparta in Turkey. Am J Forensic Med Pathol. 2020. Volume Publish Ahead of Print - Issue - doi: 10.1097/PAF.0000000000000593

Srivatsa UN, Swaminathan K, Munavarah KSA, et al. Sudden cardiac death in South India: incidence, risk factors and pathology. Indian Pacing Electrophysiol J. 2016;16(4):121-5.

Letsas KP, Efremidis M, Sideris A. Sudden cardiac death in the young: The emerging role of molecular autopsy. Hellenic Journal of Cardiology: HJC= Hellenike Kardiologike Epitheorese. 2017;58(2):151-2.

Semsarian C, Ingles J, Wilde AA. Sudden cardiac death in the young: the molecular autopsy and a practical approach to surviving relatives. Eur Heart J. 2015;36(21):1290-6.

Behr ER, Casey A, Sheppard M, et al. Sudden arrhythmic death syndrome: a national survey of sudden unexplained cardiac death. Heart. 2007;93(5):601-5.

Tester DJ, Ackerman MJ. The role of molecular autopsy in unexplained sudden cardiac death. Current opinion in cardiology. 2006;21(3):166-72.

Sutphin BS, Boczek NJ, Barajas‐Martínez H, et al. Molecular and functional characterization of rare CACNA1C variants in sudden unexplained death in the young. Congenit Heart Dis. 2016;11(6):683-92.

Campuzano O, Sanchez-Molero O, Allegue C, et al. Post-mortem genetic analysis in juvenile cases of sudden cardiac death. Forensic Sci Int. 2014;245:30-7.

Marcondes L, Crawford J, Earle N, et al. Long QT molecular autopsy in sudden unexplained death in the young (1-40 years old): Lessons learnt from an eight year experience in New Zealand. PLoS One. 2018;13(4):e0196078.

Semsarian C, Hamilton RM. Key role of the molecular autopsy in sudden unexpected death. Heart Rhythm. 2012;9(1):145-50.

Han D, Xue X, Yan Y, Li G. Dysfunctional Cav1. 2 channel in Timothy syndrome, from cell to bedside. Experimental Biology and Medicine. 2019;244(12):960-71.

Walsh MA, Turner C, Timothy KW, et al. A multicentre study of patients with Timothy syndrome. Ep Europace. 2018;20(2):377-85.

Splawski I, Timothy KW, Sharpe LM, et al. CaV1. 2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell. 2004;119(1):19-31.

Napolitano C, Splawski I, Timothy KW, et al. Timothy syndrome. GeneReviews®[Internet]: University of Washington, Seattle; 2015.

Splawski I, Timothy KW, Decher N, et al. Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proceedings of the National Academy of Sciences. 2005;102(23):8089-96.

Lo-A-Njoe SM, Wilde AA, van Erven L, et al. Syndactyly and long QT syndrome (CaV1. 2 missense mutation G406R) is associated with hypertrophic cardiomyopathy. Heart Rhythm. 2005;2(12):1365-8.

Wilde AA, Behr ER. Genetic testing for inherited cardiac disease. Nature Reviews Cardiology. 2013;10(10):571.

Mellor G, Raju H, de Noronha SV, et al. Clinical characteristics and circumstances of death in the sudden arrhythmic death syndrome. Circulation: Arrhythmia and Electrophysiology. 2014;7(6):1078-83.

Chugh SS, Kelly KL, Titus JL. Sudden cardiac death with apparently normal heart. Circulation. 2000;102(6):649-54.

Tan HL, Hofman N, Van Langen IM, et al. Sudden unexplained death: heritability and diagnostic yield of cardiological and genetic examination in surviving relatives. Circulation. 2005;112(2):207-13.

Priori SG, Napolitano C, Schwartz PJ. Low penetrance in the long-QT syndrome: clinical impact. Circulation. 1999;99(4):529-33.

Priori SG, Napolitano C, Memmi M, et al. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation. 2002;106(1):69-74.

Goldenberg I, Horr S, Moss AJ, et al. Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervals. J Am Coll Cardiol. 2011;57(1):51-9.

Ackerman MJ, Priori SG, Willems S, et al. 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). Europace. 2011;13(8):1077-109.

Gollob MH, Blier L, Brugada R, et al. Recommendations for the use of genetic testing in the clinical evaluation of inherited cardiac arrhythmias associated with sudden cardiac death: Canadian Cardiovascular Society/Canadian Heart Rhythm Society joint position paper. Canadian Journal of Cardiology. 2011;27(2):232-45.

Bişgin A, Bozdoğan ST. Ani Kardiyak Ölümde Moleküler Otopsi Çalışması: Adli Tıpta Genomiks ve İyi Hekimlik Uygulamaları. Türkiye Klinikleri Adli Tıp-Özel Konular. 2018;4(2):11-4.

Gelecek

23 Mart 2021

Lisans

Lisans