Page 57 - Read Online
P. 57
Loong et al. J Transl Genet Genom 2023;7:27-49 https://dx.doi.org/10.20517/jtgg.2022.20 Page 51
79. Ciconte G, Monasky MM, Santinelli V, et al. Brugada syndrome genetics is associated with phenotype severity. Eur Heart J
2021;42:1082-90. DOI PubMed PMC
80. Makarawate P, Glinge C, Khongphatthanayothin A, et al. Common and rare susceptibility genetic variants predisposing to Brugada
syndrome in Thailand. Heart Rhythm 2020;17:2145-53. DOI PubMed
81. Yang Y, Hu D, Sacher F, et al. Meta-analysis of risk stratification of SCN5A with brugada syndrome: is SCN5A always a marker of
low risk? Front Physiol 2019;10:103. DOI PubMed PMC
82. Priori SG, Blomström-Lundqvist C, Mazzanti A, et al. 2015 ESC guidelines for the management of patients with ventricular
arrhythmias and the prevention of sudden cardiac death: 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: association for european
paediatric and congenital cardiology (AEPC). Eur Heart J 2015;36:2793-867. DOI
83. Olde Nordkamp LR, Postema PG, Knops RE, et al. Implantable cardioverter-defibrillator harm in young patients with inherited
arrhythmia syndromes: a systematic review and meta-analysis of inappropriate shocks and complications. Heart Rhythm
2016;13:443-54. DOI PubMed
84. Sieira J, Dendramis G, Brugada P. Pathogenesis and management of Brugada syndrome. Nat Rev Cardiol 2016;13:744-56. DOI
PubMed
85. Schwartz PJ, Crotti L, Insolia R. Long-QT syndrome: from genetics to management. Circ Arrhythm Electrophysiol 2012;5:868-77.
DOI PubMed PMC
86. Schwartz PJ. Idiopathic long QT syndrome: progress and questions. Am Heart J 1985;109:399-411. DOI PubMed
87. Priori SG, Wilde AA, Horie M, et al. HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients
with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA,
PACES, and AEPC in June 2013. Heart Rhythm 2013;10:1932-63. DOI PubMed
88. Hamosh A, Scott AF, Amberger JS, Bocchini CA, McKusick VA. Online mendelian inheritance in man (OMIM), a knowledgebase
of human genes and genetic disorders. Nucleic Acids Res 2005;33:D514-7. DOI PubMed PMC
89. Kapplinger JD, Tester DJ, Salisbury BA, et al. Spectrum and prevalence of mutations from the first 2500 consecutive unrelated
patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm 2009;6:1297-303. DOI
90. Crotti L, Spazzolini C, Schwartz PJ, et al. The common long-QT syndrome mutation KCNQ1/A341V causes unusually severe
clinical manifestations in patients with different ethnic backgrounds: toward a mutation-specific risk stratification. Circulation
2007;116:2366-75. DOI PubMed
91. Mazzanti A, Maragna R, Faragli A, et al. Gene-specific therapy with mexiletine reduces arrhythmic events in patients with long qt
syndrome type 3. J Am Coll Cardiol 2016;67:1053-8. DOI PubMed PMC
92. Leenhardt A, Denjoy I, Guicheney P. Catecholaminergic polymorphic ventricular tachycardia. Circ Arrhythm Electrophysiol
2012;5:1044-52. DOI PubMed
93. Leenhardt A, Lucet V, Denjoy I, Grau F, Ngoc DD, Coumel P. Catecholaminergic polymorphic ventricular tachycardia in children. a
7-year follow-up of 21 patients. Circulation 1995;91:1512-9. DOI PubMed
94. der Werf C, van Langen IM, Wilde AA. Sudden death in the young: what do we know about it and how to prevent? Circ Arrhythm
Electrophysiol 2010;3:96-104. DOI
95. Song J, Luo Y, Jiang Y, He J. Advances in the molecular genetics of catecholaminergic polymorphic ventricular tachycardia. Front
Pharmacol 2021;12:718208. DOI PubMed PMC
96. Hayashi M, Denjoy I, Extramiana F, et al. Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic
ventricular tachycardia. Circulation 2009;119:2426-34. DOI PubMed
97. Dean JC. Marfan syndrome: clinical diagnosis and management. Eur J Hum Genet 2007;15:724-33. DOI PubMed
98. Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010;47:476-85.
DOI PubMed
99. Milewicz DM, Braverman AC, De Backer J, et al. Marfan syndrome. Nat Rev Dis Primers 2021;7:64. DOI
100. Keane MG, Pyeritz RE. Medical management of Marfan syndrome. Circulation 2008;117:2802-13. DOI PubMed
101. Frankel WC, Trautner BW, Spiegelman A, Grigoryan L, LeMaire SA. Patients at risk for aortic rupture often exposed to
fluoroquinolones during hospitalization. Antimicrob Agents Chemother 2019:63. DOI PubMed PMC
102. Coelho SG, Almeida AG. Marfan syndrome revisited: from genetics to the clinic. Rev Port Cardiol 2020;39:215-26. DOI PubMed
103. Sakai LY, Keene DR, Renard M, De Backer J. FBN1: the disease-causing gene for Marfan syndrome and other genetic disorders.
Gene 2016;591:279-91. DOI PubMed PMC
104. Gao LG, Luo F, Hui RT, Zhou XL. Recent molecular biological progress in Marfan syndrome and Marfan-associated disorders.
Ageing Res Rev 2010;9:363-8. DOI PubMed
105. Cecchi A, Ogawa N, Martinez HR, et al. Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with
thoracic aortic disease and Marfan syndrome. Am J Med Genet A 2013;161A:2305-10. DOI PubMed PMC
106. Emanuel R, Ng RA, Marcomichelakis J, et al. Formes frustes of Marfan’s syndrome presenting with severe aortic regurgitation.
clinicogenetic study of 18 families. Br Heart J 1977;39:190-7. DOI PubMed PMC
107. McKenna A, Hanna M, Banks E, et al. The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA
sequencing data. Genome Res 2010;20:1297-303. DOI PubMed PMC
108. McLaren W, Gil L, Hunt SE, et al. The ensembl variant effect predictor. Genome Biol 2016;17:122. DOI