Genetik Testler

Katja Zeppenfeld, Jacob Tfelt-Hansen, Marta de Riva, et al. 2022 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: Developed by the task force for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death of the European Society of Cardiology (ESC) Endorsed by the Association for European Paediatric and Congenital Cardiology (AEPC) European Heart Journal, Volume 43, Issue 40, Pages 3997–4126 doi: 10.1093/eurheartj/ehac262

Arthur A M Wilde, Elijah R Behr. Genetic testing for İnherited cardiac disease. Nature Reviews Cardiology 2013; 10 (10), 571-83 doi; 10.1038/nr cardio.2013.108.

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). Heart Rhythm. 2011 Aug;8(8):1308-39. doi: 10.1016/j.hrthm.2011.05.020.

Hershberger RE, Givertz MM, Ho CY, et al. Genetic evaluation of cardiomyopathy—a Heart Failure Society of America practice guideline. J Card Fail. 2018;24:281–302. doi: 10.1016/j.cardfail.2018.03.004.

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. Can J Cardiol. 2011 Mar-Apr;27(2):232-45. doi: 10.1016/j.cjca.2010.12.078.

Mazaanti.A, Mazzanti. S, Priori G (2018) Cardiovascular Genetics and Genomics. Kumar.D, Elliott.P (eds), LQTS/SQTS/CPVT.pp423-437, Switzerland:Springer Nature.

Postema PG, Lieveİ KVV, Wilde AAM (2018) Cardiovascular Genetics and Genomics Kumar.D, Elliott.P (eds), Brugada Syndrome and Early Repolarisation Syndrome. P 437-481,Switzerland: Springer Nature.

Al-Khatib SM, Stevenson WG, Acherman MJ, et al. 2017 AHA/ACC/HRS guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: A report of the American College of Cardiology/American Heart Association Task Force on clinical practice guidelines and the Heart Rhythm Society.Heart Rhythm. 2018; 15 (10), e190-e252. doi: 10.1016/j.hrthm.2017.10.035.

Spears DA, Gollob MH. Genetics of inherited primary arrhythmia disorders. Appl Clin Genet. 2015 Sep 18;8:215-33. doi: 10.2147/TACG.S55762

Kron J, Ellebogen K, Abbate A. Recurrent ventricular fibrillation in a young female carrying a previously unidentified RyR2 gene mutation. Int J Cardiol 2015; 201: 222-4. doi: 10.1016/j.ijcard.2015.08.044.

Napolitano C, Priori SG. Diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia. Heart Rhythm 2007; 4: 675-8. doi: 10.1016/j.hrthm.2006.12.048.

Lahat H, Pras E, Olender T, et al. A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel. Am J Hum Genet 2001; 69: 1378-84. doi: 10.1086/324565.

Kline J, Costantini O. Inherited Cardiac Arrhythmias and Channelopathies. Medical Clinics of North America. Published online September 2019:809-820. doi:10.1016/j.mcna.2019.05.001.

Hansen MW, Merchant N. MRI of hypertrophic cardiomyopathy: part I, MRI appearances. AJR Am J Roentgenol. 2007 Dec;189(6):1335-43. doi: 10.2214/AJR.07.2286.

Perez Diez D, Brugada J. Diagnosis and Management of Arrhythmogenic Right Ventricular Dysplasia: An article from the E-Journal of the ESC Council for Cardiology Practice, European Society of Cardiology 2008.

Hershberger RE, Hedges DJ, Morales A. Dilated cardiomyopathy: the complexity of a diverse genetic architecture. Nat Rev Cardiol. 2013;10(9):531–47. doi: 10.1038/nrcardio.2013.105.

Hershberger RE, Cowan J, Morales A, et al. Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Heart Fail. 2009 May;2(3):253-61. doi: 10.1161/CIRCHEARTFAILURE.108.817346.

Katja Zeppenfeld, Jacob Tfelt-Hansen, Marta de Riva, et al. 2022 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: Developed by the task force for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death of the European Society of Cardiology (ESC) Endorsed by the Association for European Paediatric and Congenital Cardiology (AEPC) European Heart Journal, Volume 43, Issue 40, Pages 3997–4126 doi: 10.1093/eurheartj/ehac262

Arthur A M Wilde, Elijah R Behr. Genetic testing for İnherited cardiac disease. Nature Reviews Cardiology 2013; 10 (10), 571-83 doi; 10.1038/nr cardio.2013.108.

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). Heart Rhythm. 2011 Aug;8(8):1308-39. doi: 10.1016/j.hrthm.2011.05.020.

Hershberger RE, Givertz MM, Ho CY, et al. Genetic evaluation of cardiomyopathy—a Heart Failure Society of America practice guideline. J Card Fail. 2018;24:281–302. doi: 10.1016/j.cardfail.2018.03.004.

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. Can J Cardiol. 2011 Mar-Apr;27(2):232-45. doi: 10.1016/j.cjca.2010.12.078.

Mazaanti.A, Mazzanti. S, Priori G (2018) Cardiovascular Genetics and Genomics. Kumar.D, Elliott.P (eds), LQTS/SQTS/CPVT.pp423-437, Switzerland:Springer Nature.

Postema PG, Lieveİ KVV, Wilde AAM (2018) Cardiovascular Genetics and Genomics Kumar.D, Elliott.P (eds), Brugada Syndrome and Early Repolarisation Syndrome. P 437-481,Switzerland: Springer Nature.

Al-Khatib SM, Stevenson WG, Acherman MJ, et al. 2017 AHA/ACC/HRS guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: A report of the American College of Cardiology/American Heart Association Task Force on clinical practice guidelines and the Heart Rhythm Society.Heart Rhythm. 2018; 15 (10), e190-e252. doi: 10.1016/j.hrthm.2017.10.035.

Spears DA, Gollob MH. Genetics of inherited primary arrhythmia disorders. Appl Clin Genet. 2015 Sep 18;8:215-33. doi: 10.2147/TACG.S55762

Kron J, Ellebogen K, Abbate A. Recurrent ventricular fibrillation in a young female carrying a previously unidentified RyR2 gene mutation. Int J Cardiol 2015; 201: 222-4. doi: 10.1016/j.ijcard.2015.08.044.

Napolitano C, Priori SG. Diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia. Heart Rhythm 2007; 4: 675-8. doi: 10.1016/j.hrthm.2006.12.048.

Lahat H, Pras E, Olender T, et al. A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel. Am J Hum Genet 2001; 69: 1378-84. doi: 10.1086/324565.

Kline J, Costantini O. Inherited Cardiac Arrhythmias and Channelopathies. Medical Clinics of North America. Published online September 2019:809-820. doi:10.1016/j.mcna.2019.05.001.

Hansen MW, Merchant N. MRI of hypertrophic cardiomyopathy: part I, MRI appearances. AJR Am J Roentgenol. 2007 Dec;189(6):1335-43. doi: 10.2214/AJR.07.2286.

Perez Diez D, Brugada J. Diagnosis and Management of Arrhythmogenic Right Ventricular Dysplasia: An article from the E-Journal of the ESC Council for Cardiology Practice, European Society of Cardiology 2008.

Hershberger RE, Hedges DJ, Morales A. Dilated cardiomyopathy: the complexity of a diverse genetic architecture. Nat Rev Cardiol. 2013;10(9):531–47. doi: 10.1038/nrcardio.2013.105.

Hershberger RE, Cowan J, Morales A, et al. Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Heart Fail. 2009 May;2(3):253-61. doi: 10.1161/CIRCHEARTFAILURE.108.817346.