Cited by 27Atrial Fibrillation Management and OutcomesCardiac electrophysiology and arrhythmiasGenetic Associations and Epidemiology

How Will Genetics Inform the Clinical Care of Atrial Fibrillation?

Open access
Shoemaker, M. Benjamin, Shah, Rajan L., Roden, Dan M., Perez, Marco V.·2020·Circulation Research

Abstract

Susceptibility to atrial fibrillation (AF) is determined by well-recognized risk factors such as diabetes mellitus or hypertension, emerging risk factors such as sleep apnea or inflammation, and increasingly well-defined genetic variants. As discussed in detail in a companion article in this series, studies in families and in large populations have identified multiple genetic loci, specific genes, and specific variants increasing susceptibility to AF. Since it is becoming increasingly inexpensive to obtain genotype data and indeed whole genome sequence data, the question then becomes to define whether using emerging new genetics knowledge can improve care for patients both before and after development of AF. Examples of improvements in care could include identifying patients at increased risk for AF (and thus deploying increased surveillance or even low-risk preventive therapies should these be available), identifying patient subsets in whom specific therapies are likely to be effective or ineffective or in whom the driving biology could motivate the development of new mechanism-based therapies or identifying an underlying susceptibility to comorbid cardiovascular disease. While current guidelines for the care of patients with AF do not recommend routine genetic testing, this rapidly increasing knowledge base suggests that testing may now or soon have a place in the management of select patients. The opportunity is to generate, validate, and deploy clinical predictors (including family history) of AF risk, to assess the utility of incorporating genomic variants into those predictors, and to identify and validate interventions such as wearable or implantable device-based monitoring ultimately to intervene in patients with AF before they present with catastrophic complications like heart failure or stroke.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.1161/circresaha.120.316365

Cites

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • There is a strong association between cardiomyopathies (dilated, hypertrophic, arrhythmogenic) and AF in younger athletes, with AF prevalence ranging from 10% to 25% in each subtype, as well as an association between LQTS, Brugada syndrome, and AF.

    “Another significant clue regarding the AF spectrum is the strong association between cardiomyopathies—including dilated, hypertrophic, and arrhythmogenic cardiomyopathy—and AF in younger athletes (with the prevalence of AF ranging from 10% to 25% in each subtype), as well as the association between long QT syndrome (LQTS), Brugada syndrome, and AF [32].”

    From Atrial Fibrillation in Elite Athletes: A Comprehensive Review of the Literature (2024) · cites this paper as [32]

    Split into 2 atoms — 1 confirmed, 1 partially supported, 0 disputed, 0 misattributed, 0 unverifiable. Expand the claim to see per-atom verdicts.

    Experimental — accuracy not yet measured

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

The citation lists haven’t been fetched yet

References 145 · Cited by 27

Research works printed but not linked: 138

  1. [1]Kirchhof P, Benussi S, Kotecha D, 2016 ESC Guidelines for the Management of Atrial Fibrillation Developed in Collaboration With EACTS. Rev Esp Cardiol (Engl Ed). 2017; 70: 50. 28038729
  2. [2]Manolio TA. Genomewide Association Studies and Assessment of the Risk of Disease. The New England Journal of Medicine. 2010; 363: 166– 176. 20647212
  3. [5]Samani NJ, Erdmann J, Hall AS, Genomewide association analysis of coronary artery disease. N Engl J Med. 2007; 357: 443– 453. 17634449 PMC2719290
  4. [6]McPherson R, Pertsemlidis A, Kavaslar N, A common allele on chromosome 9 associated with coronary heart disease. Science. 2007; 316: 1488– 91. 17478681 PMC2711874
  5. [7]Arking DE, Pfeufer A, Post W, A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization. Nature genetics. 2006; 38: 644– 51. 16648850
  6. [8]Offit K Genomic profiles for disease risk: predictive or premature? Jama. 2008; 299: 1353– 5. 18349097
  7. [9]Crotti L, Monti MC, Insolia R, Peljto A, Goosen A, Brink PA, Greenberg DA, Schwartz PJ and George AL Jr. NOS1AP Is a Genetic Modifier of the Long-QT Syndrome. Circulation. 2009; 120: 1657– 1663. 19822806 PMC2783481
  8. [10]Tomas M, Napolitano C, De GL, Polymorphisms in the NOS1AP gene modulate QT interval duration and risk of arrhythmias in the long QT syndrome. J Am Coll Cardiol. 2010; 55: 2745– 2752. 20538168
  9. [11]Kolder IC, Tanck MW, Postema PG, Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2. Circulation Cardiovascular genetics. 2015; 8: 447– 56. 25737393 PMC4770255
  10. [12]Jamshidi Y, Nolte IM, Dalageorgou C, Common variation in the NOS1AP gene is associated with drug-induced QT prolongation and ventricular arrhythmia. Journal of the American College of Cardiology. 2012; accepted for publication. PMC3753216 22682551
  11. [13]Kao WH, Arking DE, Post W, Genetic Variations in Nitric Oxide Synthase 1 Adaptor Protein Are Associated With Sudden Cardiac Death in US White Community-Based Populations. Circulation. 2009; 119: 940– 951. 19204306 PMC2782762
  12. [14]Roselli C, Chaffin MD, Weng LC, Multi-ethnic genome-wide association study for atrial fibrillation. Nature genetics. 2018; 50: 1225– 1233. 29892015 PMC6136836
  13. [15]Huizar JF, Ellenbogen KA, Tan AY and Kaszala K. Arrhythmia-Induced Cardiomyopathy. J Am Coll Cardiol. 2019; 73: 2328– 2344. 31072578 PMC6538508
  14. [16]Orgain ES, Wolff L and White PD. Uncomplicated auricular fibrillation and auricular flutter: Frequent occurrence and good prognosis in patients without other evidence of cardiac disease. Archives of Internal Medicine. 1936; 57: 493– 513.
  15. [17]Wolff L Familial Auricular Fibrillation. New England Journal of Medicine. 1943; 229: 396– 398.
  16. [20]Darbar D, Herron KJ, Ballew JD, Jahangir A, Gersh BJ, Shen WK, Hammill SC, Packer DL and Olson TM. Familial atrial fibrillation is a genetically heterogeneous disorder. Journal of the American College of Cardiology. 2003; 41: 2185– 2192. 12821245
  17. [21]Weng LC, Choi SH, Klarin D, Heritability of Atrial Fibrillation. Circulation Cardiovascular genetics. 2017; 10. PMC5966046 29237688
  18. [22]Lubitz SA, Yin X, Fontes JD, Association between familial atrial fibrillation and risk of new-onset atrial fibrillation. Jama. 2010; 304: 2263– 9. 21076174 PMC3073054
  19. [23]Lubitz SA, Sinner MF, Lunetta KL, Independent susceptibility markers for atrial fibrillation on chromosome 4q25. Circulation. 2010; 122: 976– 984. 20733104 PMC2978508
  20. [24]Lubitz SA, Lunetta KL, Lin H, Novel genetic markers associate with atrial fibrillation risk in europeans and Japanese. J Am Coll Cardiol. 2014; 63: 1200– 10. 24486271 PMC4009240
  21. [25]Lubitz SA, Yin X, Lin HJ, Genetic Risk Prediction of Atrial Fibrillation. Circulation. 2017; 135: 1311– 1320. 27793994 PMC5380586
  22. [27]Ueberham L, Bollmann A, Shoemaker MB, Arya A, Adams V, Hindricks G and Husser D. Genetic ACE I/D polymorphism and recurrence of atrial fibrillation after catheter ablation. Circulation Arrhythmia and electrophysiology. 2013; 6: 732– 7. 23876437
  23. [28]Wu G, Cheng M, Huang H, Yang B, Jiang H and Huang C. A variant of IL6R is associated with the recurrence of atrial fibrillation after catheter ablation in a Chinese Han population. PLoS One. 2014; 9: e99623. 24940886 PMC4062460
  24. [29]Husser D, Adams V, Piorkowski C, Hindricks G and Bollmann A. Chromosome 4q25 variants and atrial fibrillation recurrence after catheter ablation. J Am Coll Cardiol. 2010; 55: 747– 753. 20170812
  25. [30]Shoemaker MB, Muhammad R, Parvez B, Common atrial fibrillation risk alleles at 4q25 predict recurrence after catheter-based atrial fibrillation ablation. Heart rhythm: the official journal of the Heart Rhythm Society. 2013; 10: 394– 400. PMC3587357 23178686
  26. [31]Shoemaker MB, Bollmann A, Lubitz SA, Common Genetic Variants and Response to Atrial Fibrillation Ablation. Circulation: Arrhythmia and Electrophysiology. 2015; 8: 296– 302. 25684755 PMC4731871
  27. [32]Choi EK, Park JH, Lee JY, Korean Atrial Fibrillation (AF) Network: Genetic Variants for AF Do Not Predict Ablation Success. J Am Heart Assoc. 2015; 4: e002046. 26272656 PMC4599462
  28. [33]Gretarsdottir S, Thorleifsson G, Manolescu A, Risk variants for atrial fibrillation on chromosome 4q25 associate with ischemic stroke. Ann Neurol. 2008; 64: 402– 9. 18991354
  29. [36]Weng LC, Preis SR, Hulme OL, Genetic Predisposition, Clinical Risk Factor Burden, and Lifetime Risk of Atrial Fibrillation. Circulation. 2018; 137: 1027– 1038. 29129827 PMC5840011
  30. [37]Calkins H, Hindricks G, Cappato R, 2017 HRS/EHRA/ECAS/APHRS/SOLAECE expert consensus statement on catheter and surgical ablation of atrial fibrillation: Executive summary. Heart Rhythm. 2017; 14: e445– e494. 31631881
  31. [38]Al-Hijji MA, Deshmukh AJ, Yao X, Trends and predictors of repeat catheter ablation for atrial fibrillation. Am Heart J. 2016; 171: 48– 55. 26699600
  32. [39]Husser D, Adams V, Piorkowski C, Hindricks G and Bollmann A. Chromosome 4q25 variants and atrial fibrillation recurrence after catheter ablation. J Am Coll Cardiol. 2010; 55: 747– 53. 20170812
  33. [40]Shoemaker MB, Bollmann A, Lubitz SA, Common genetic variants and response to atrial fibrillation ablation. Circ Arrhythm Electrophysiol. 2015; 8: 296– 302. 25684755 PMC4731871
  34. [41]Benjamin Shoemaker M, Muhammad R, Parvez B, Common atrial fibrillation risk alleles at 4q25 predict recurrence after catheter-based atrial fibrillation ablation. Heart Rhythm. 2013; 10: 394– 400. 23178686 PMC3587357
  35. [42]Chen F, Yang Y, Zhang R, Polymorphism rs2200733 at chromosome 4q25 is associated with atrial fibrillation recurrence after radiofrequency catheter ablation in the Chinese Han population. Am J Transl Res. 2016; 8: 688– 97. 27158361 PMC4846918
  36. [43]Zhao LQ, Zhang GB, Wen ZJ, Common variants predict recurrence after nonfamilial atrial fibrillation ablation in Chinese Han population. Int J Cardiol. 2017; 227: 360– 366. 27843048
  37. [44]Miyazaki S, Ebana Y, Liu L, Chromosome 4q25 variants and recurrence after second-generation cryoballoon ablation in patients with paroxysmal atrial fibrillation. Int J Cardiol. 2017; 244: 151– 157. 28637626
  38. [45]Rattanawong P, Chenbhanich J, Vutthikraivit W and Chongsathidkiet P. A Chromosome 4q25 Variant is Associated with Atrial Fibrillation Recurrence After Catheter Ablation: A Systematic Review and Meta-Analysis. J Atr Fibrillation. 2018; 10: 1666. 29988284 PMC6009792
  39. [46]Mommersteeg MT, Brown NA, Prall OW, de Gier-de Vries C, Harvey RP, Moorman AF and Christoffels VM. Pitx2c and Nkx2–5 are required for the formation and identity of the pulmonary myocardium. Circ Res. 2007; 101: 902– 9. 17823370
  40. [47]Parvez B, Chopra N, Rowan S, Vaglio JC, Muhammad R, Roden DM and Darbar D. A common beta1-adrenergic receptor polymorphism predicts favorable response to rate-control therapy in atrial fibrillation. J Am Coll Cardiol. 2012; 59: 49– 56. 22192668 PMC3245828
  41. [48]Liggett SB, Mialet-Perez J, Thaneemit-Chen S, A polymorphism within a conserved {beta}1-adrenergic receptor motif alters cardiac function and {beta}-blocker response in human heart failure. Proceedings of the National Academy of Sciences. 2006; 103: 11288– 11293. PMC1523317 16844790
  42. [49]Aleong RG, Sauer WH, Murphy GA, Prevention of atrial fibrillation by bucindolol is dependent on the beta(1)389 Arg/Gly adrenergic receptor polymorphism. JACC Heart failure. 2013; 1: 338– 44. 24159564 PMC3804380
  43. [50]Piccini JP, Connolly SJ, Abraham WT, A genotype-directed comparative effectiveness trial of Bucindolol and metoprolol succinate for prevention of symptomatic atrial fibrillation/atrial flutter in patients with heart failure: Rationale and design of the GENETIC-AF trial. Am Heart J. 2018; 199: 51– 58. 29754666
  44. [51]Piccini JP, Abraham WT, Dufton C, Bucindolol for the Maintenance of Sinus Rhythm in a Genotype-Defined HF Population: The GENETIC-AF Trial. JACC Heart Fail. 2019; 7: 586– 598. 31042551 PMC7205445
  45. [52]Parvez B, Vaglio J, Rowan S, Muhammad R, Kucera G, Stubblefield T, Carter S, Roden D and Darbar D. Symptomatic Response to Antiarrhythmic Drug Therapy Is Modulated by a Common Single Nucleotide Polymorphism in Atrial Fibrillation. J Am Coll Cardiol. 2012. PMC3411889 22726630
  46. [53]Parvez B, Shoemaker MB, Muhammad R, Richardson R, Jiang L, Blair MA, Roden DM and Darbar D. Common genetic polymorphism at 4q25 locus predicts atrial fibrillation recurrence after successful cardioversion. Heart Rhythm. 2013; 10: 849– 55. 23428961 PMC3690553
  47. [54]Lahtinen AM, Noseworthy PA, Havulinna AS, Common genetic variants associated with sudden cardiac death: the FinSCDgen study. PloS one. 2012; 7: e41675. 22844511 PMC3402479
  48. [55]Briasoulis A, Sharma S, Telila T, Mallikethi-Reddy S, Papageorgiou N, Oikonomou E and Tousoulis D. MicroRNAs in Atrial Fibrillation. Current medicinal chemistry. 2019; 26: 855– 863. 28933293
  49. [56]Ko D, Benson MD, Ngo D, Proteomics Profiling and Risk of New-Onset Atrial Fibrillation: Framingham Heart Study. J Am Heart Assoc. 2019; 8: e010976. 30841775 PMC6475036
  50. [57]Wang TJ, Larson MG, Levy D, Benjamin EJ, Leip EP, Omland T, Wolf PA and Vasan RS. Plasma natriuretic peptide levels and the risk of cardiovascular events and death. N Engl J Med. 2004; 350: 655– 63. 14960742
  51. [58]Patton KK, Ellinor PT, Heckbert SR, Christenson RH, DeFilippi C, Gottdiener JS and Kronmal RA. N-terminal pro-B-type natriuretic peptide is a major predictor of the development of atrial fibrillation: the Cardiovascular Health Study. Circulation. 2009; 120: 1768– 74. 19841297 PMC4132053
  52. [59]Kurl S, Ala-Kopsala M, Ruskoaho H, Makikallio T, Nyyssonen K, Vuolteenaho O, Sivenius J, Salonen JT and Laukkanen JA. Plasma N-terminal fragments of natriuretic peptides predict the risk of stroke and atrial fibrillation in men. Heart. 2009; 95: 1067– 71. 19321489
  53. [60]Sinner MF, Stepas KA, Moser CB, B-type natriuretic peptide and C-reactive protein in the prediction of atrial fibrillation risk: the CHARGE-AF Consortium of community-based cohort studies. Europace. 2014; 16: 1426– 33. 25037055 PMC4197895
  54. [61]Wells QS, Gupta DK, Smith JG, Accelerating Biomarker Discovery Through Electronic Health Records, Automated Biobanking, and Proteomics. J Am Coll Cardiol. 2019; 73: 2195– 2205. 31047008 PMC6501811
  55. [62]Mosley JD, Benson MD, Smith JG, Probing the Virtual Proteome to Identify Novel Disease Biomarkers. Circulation. 2018; 138: 2469– 2481. 30571344 PMC8833190
  56. [63]Salem JE, Shoemaker MB, Bastarache L, Association of Thyroid Function Genetic Predictors With Atrial Fibrillation: A Phenome-Wide Association Study and Inverse-Variance Weighted Average Meta-analysis. JAMA cardiology. 2019. PMC6439628 30673079
  57. [64]Ellervik C, Roselli C, Christophersen IE, Assessment of the Relationship Between Genetic Determinants of Thyroid Function and Atrial Fibrillation: A Mendelian Randomization Study. JAMA Cardiol. 2019; 4: 144– 152. 30673084 PMC6396813
  58. [65]Chen YH, Xu SJ, Bendahhou S, KCNQ1 gain-of-function mutation in familial atrial fibrillation. Science. 2003; 299: 251– 254. 12522251
  59. [66]Hodgson-Zingman DM, Karst ML, Zingman LV, Atrial Natriuretic Peptide Frameshift Mutation in Familial Atrial Fibrillation. The New England Journal of Medicine. 2008; 359: 158– 165. 18614783 PMC2518320
  60. [67]Orr N, Arnaout R, Gula LJ, A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation. Nat Commun. 2016; 7: 11303. 27066836 PMC4832069
  61. [68]Zhao J, Yao H, Li Z, Wang L, Liu G, Wang DW, Wang DW and Liang Z. A novel nonsense mutation in LMNA gene identified by Exome Sequencing in an atrial fibrillation family. European journal of medical genetics. 2016; 59: 396– 400. 27373676
  62. [69]Fatkin D, MacRae C, Sasaki T, Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med. 1999; 341: 1715– 24. 10580070
  63. [70]Lieve KV, Verkerk AO, Podliesna S, Gain-of-function mutation in SCN5A causes ventricular arrhythmias and early onset atrial fibrillation. International journal of cardiology. 2017; 236: 187– 193. 28262340
  64. [71]Olson TM, Michels VV, Ballew JD, Reyna SP, Karst ML, Herron KJ, Horton SC, Rodeheffer RJ and Anderson JL. Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. Journal of the American Medical Association. 2005; 293: 447– 454. 15671429 PMC2039897
  65. [72]Tucker NR, Mahida S, Ye J, Gain-of-function mutations in GATA6 lead to atrial fibrillation. Heart rhythm: the official journal of the Heart Rhythm Society. 2017; 14: 284– 291. 27756709
  66. [73]Zhang X, Chen S, Yoo S, Mutation in nuclear pore component NUP155 leads to atrial fibrillation and early sudden cardiac death. Cell. 2008; 135: 1017– 1027. 19070573
  67. [74]Fatkin D, MacRae C, Sasaki T, Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. New England Journal of Medicine. 1999; 341: 1715– 1724. 10580070
  68. [75]Hoffmann S, Paone C, Sumer SA, Functional Characterization of Rare Variants in the SHOX2 Gene Identified in Sinus Node Dysfunction and Atrial Fibrillation. Frontiers in genetics. 2019; 10: 648. 31354791 PMC6637028
  69. [76]Yang Y, Xia M, Jin Q, Identification of a KCNE2 Gain-of-Function Mutation in Patients with Familial Atrial Fibrillation. AmJ HumGenet. 2004; 75: 899– 905. 15368194 PMC1182120
  70. [77]Hosseini SM, Kim R, Udupa S, Reappraisal of Reported Genes for Sudden Arrhythmic Death. Circulation. 2018; 138: 1195– 1205. 29959160 PMC6147087
  71. [78]Ingles J, Goldstein J, Thaxton C, Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes. Circ Genom Precis Med. 2019; 12: e002460. 30681346 PMC6410971
  72. [79]Adler A, Novelli V, Amin AS, An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome. Circulation. 2020; 141: 418– 428. 31983240 PMC7017940
  73. [80]Herman DS, Lam L, Taylor MRG, Truncations of Titin Causing Dilated Cardiomyopathy. New England Journal of Medicine. 2012; 366: 619– 628. PMC3660031 22335739
  74. [81]Norton N, Li D, Rampersaud E, Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy. Circulation Cardiovascular genetics. 2013; 6: 144– 53. 23418287 PMC3815606
  75. [82]Ware JS, Li J, Mazaika E, Shared Genetic Predisposition in Peripartum and Dilated Cardiomyopathies. N Engl J Med. 2016; 374: 233– 41. 26735901 PMC4797319
  76. [83]Garcia-Pavia P, Kim Y, Restrepo-Cordoba MA, Genetic Variants Associated With Cancer Therapy-Induced Cardiomyopathy. Circulation. 2019; 140: 31– 41. 30987448 PMC6613726
  77. [84]Choi SH, Weng LC, Roselli C, Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation. JAMA. 2018; 320: 2354– 2364. 30535219 PMC6436530
  78. [85]Refaat MM, Lubitz SA, Makino S, Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy. Heart rhythm: the official journal of the Heart Rhythm Society. 2012; 9: 390– 6. PMC3516872 22004663
  79. [86]Goodyer WR, Dunn K, Caleshu C, Broad Genetic Testing in a Clinical Setting Uncovers a High Prevalence of Titin Loss-of-Function Variants in Very Early Onset Atrial Fibrillation. Circ Genom Precis Med. 2019; 12: e002713. 31638414 PMC10626994
  80. [87]Wolf PA, Mitchell JB, Baker CS, Kannel WB and D’Agostino RB. Impact of atrial fibrillation on mortality, stroke, and medical costs. Arch Intern Med. 1998; 158: 229– 34. 9472202
  81. [88]Sankaranarayanan R, Kirkwood G, Dibb K and Garratt CJ. Comparison of Atrial Fibrillation in the Young versus That in the Elderly: A Review. Cardiology research and practice. 2013; 2013: 976976. 23401843 PMC3564268
  82. [89]Husser D, Ueberham L, Hindricks G, Rare variants in genes encoding the cardiac sodium channel and associated compounds and their impact on outcome of catheter ablation of atrial fibrillation. PLoS One. 2017; 12: e0183690. 28837624 PMC5570360
  83. [90]Giustetto C, Di Monte F, Wolpert C, Short QT syndrome: clinical findings and diagnostic-therapeutic implications. Eur Heart J. 2006; 27: 2440– 7. 16926178
  84. [91]Johnson JN, Tester DJ, Perry J, Salisbury BA, Reed CR and Ackerman MJ. Prevalence of early-onset atrial fibrillation in congenital long QT syndrome. Heart Rhythm. 2008; 5: 704– 709. 18452873 PMC3940082
  85. [92]Bordachar P, Reuter S, Garrigue S, Cai X, Hocini M, Jais P, Haissaguerre M and Clementy J. Incidence, clinical implications and prognosis of atrial arrhythmias in Brugada syndrome. Eur Heart J. 2004; 25: 879– 84. 15140537
  86. [93]Bigi MA, Aslani A and Shahrzad S. Clinical predictors of atrial fibrillation in Brugada syndrome. Europace. 2007; 9: 947– 50. 17540664
  87. [94]Rowin EJ, Hausvater A, Link MS, Clinical Profile and Consequences of Atrial Fibrillation in Hypertrophic Cardiomyopathy. Circulation. 2017; 136: 2420– 2436. 28916640
  88. [95]Guttmann OP, Rahman MS, O’Mahony C, Anastasakis A and Elliott PM. Atrial fibrillation and thromboembolism in patients with hypertrophic cardiomyopathy: systematic review. Heart (British Cardiac Society). 2014; 100: 465– 72. 24014282
  89. [96]Lee SP, Ashley EA, Homburger J, Incident Atrial Fibrillation Is Associated With MYH7 Sarcomeric Gene Variation in Hypertrophic Cardiomyopathy. Circ Heart Fail. 2018; 11: e005191. 30354366
  90. [97]Azarbal F, Singh M, Finocchiaro G, Le VV, Schnittger I, Wang P, Myers J, Ashley E and Perez M. Exercise capacity and paroxysmal atrial fibrillation in patients with hypertrophic cardiomyopathy. Heart. 2014; 100: 624– 30. 24326897
  91. [98]Maron BJ, Casey SA, Poliac LC, Gohman TE, Almquist AK and Aeppli DM. Clinical course of hypertrophic cardiomyopathy in a regional United States cohort. JAMA: the journal of the American Medical Association. 1999; 281: 650– 5. 10029128
  92. [99]Siontis KC, Geske JB, Ong K, Nishimura RA, Ommen SR and Gersh BJ. Atrial fibrillation in hypertrophic cardiomyopathy: prevalence, clinical correlations, and mortality in a large high-risk population. Journal of the American Heart Association. 2014; 3: e001002. 24965028 PMC4309084
  93. [100]Camm CF, James CA, Tichnell C, Murray B, Bhonsale A, te Riele AS, Judge DP, Tandri H and Calkins H. Prevalence of atrial arrhythmias in arrhythmogenic right ventricular dysplasia/cardiomyopathy. Heart Rhythm. 2013; 10: 1661– 8. 23994726
  94. [101]Saguner AM, Ganahl S, Kraus A, Clinical role of atrial arrhythmias in patients with arrhythmogenic right ventricular dysplasia. Circulation journal: official journal of the Japanese Circulation Society. 2014; 78: 2854– 61. 25327952
  95. [102]Stollberger C, Blazek G, Winkler-Dworak M and Finsterer J. Atrial fibrillation in left ventricular noncompaction with and without neuromuscular disorders is associated with a poor prognosis. International journal of cardiology. 2009; 133: 41– 5. 18255171
  96. [103]Li S, Zhang C, Liu N, Bai H, Hou C and Pu J. Clinical implications of sarcomere and nonsarcomere gene variants in patients with left ventricular noncompaction cardiomyopathy. Mol Genet Genomic Med. 2019; 7: e874. 31397097 PMC6732340
  97. [104]Brembilla-Perrot B, Schwartz J, Huttin O, Atrial flutter or fibrillation is the most frequent and life-threatening arrhythmia in myotonic dystrophy. Pacing and clinical electrophysiology: PACE. 2014; 37: 329– 35. 24117873
  98. [105]Russo V, Rago A, Ciardiello C, Russo MG, Calabro P, Politano L and Nigro G. The Role of the Atrial Electromechanical Delay in Predicting Atrial Fibrillation in Myotonic Dystrophy Type 1 Patients. J Cardiovasc Electrophysiol. 2016; 27: 65– 72. 26331589
  99. [106]Choi SH, Jurgens SJ, Weng LC, Monogenic and Polygenic Contributions to Atrial Fibrillation Risk: Results from a National Biobank. Circ Res. 2019. PMC7007701 31691645
  100. [107]Ritchie MD, Rowan S, Kucera G, Stubblefield T, Blair M, Carter S, Roden DM and Darbar D. Chromosome 4q25 variants are genetic modifiers of rare ion channel mutations associated with familial atrial fibrillation. J Am Coll Cardiol. 2012; 60: 1173– 81. 22818067 PMC3448817
  101. [108]Lander ES, Linton LM, Birren B, Initial sequencing and analysis of the human genome. Nature. 2001; 409: 860– 921. 11237011
  102. [109]Venter JC, Adams MD, Myers EW, The sequence of the human genome. Science. 2001; 291: 1304– 51. 11181995
  103. [110]Priori SG, Wilde AA, Horie M, 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: the official journal of the Heart Rhythm Society. 2013; 10: 1932– 63. 24011539
  104. [111]Perez MV, Kumarasamy NA, Owens DK, Wang PJ and Hlatky MA. Cost-effectiveness of genetic testing in family members of patients with long-QT syndrome. Circ Cardiovasc Qual Outcomes. 2011; 4: 76– 84. 21139095
  105. [112]Olesen MS, Andreasen L, Jabbari J, Refsgaard L, Haunso S, Olesen SP, Nielsen JB, Schmitt N and Svendsen JH. Very early-onset lone atrial fibrillation patients have a high prevalence of rare variants in genes previously associated with atrial fibrillation. Heart rhythm: the official journal of the Heart Rhythm Society. 2014; 11: 246– 51. 24144883
  106. [113]Hayashi K, Konno T, Tada H, Functional Characterization of Rare Variants Implicated in Susceptibility to Lone Atrial Fibrillation. Circ Arrhythm Electrophysiol. 2015; 8: 1095– 104. 26129877
  107. [114]Moscarello T and Caleshu C. A review of the Emergence and Expansion of Cardiovascular Genetic Counseling. C Curr Cardiovasc Risk Rep. 2019; 13.
  108. [115]Takemura Y, Sakurai Y, Yokoya S, Otaki J, Matsuoka T, Ban N, Hirata I, Miki T and Tsuda T. Open-ended questions: are they really beneficial for gathering medical information from patients? Tohoku J Exp Med. 2005; 206: 151– 4. 15888971
  109. [116]Vetto JT, Richert-Boe K, Desler M, DuFrain L and Hagen H. Tumor board formats: “fascinating case” versus “working conference”. J Cancer Educ. 1996; 11: 84– 8. 8793648
  110. [117]Manolio TA, Rowley R, Williams MS, Opportunities, resources, and techniques for implementing genomics in clinical care. Lancet. 2019; 394: 511– 520. 31395439 PMC6699751
  111. [119]Schwieler JH, Zlochiver S, Pandit SV, Berenfeld O, Jalife J and Bergfeldt L. Reentry in an accessory atrioventricular pathway as a trigger for atrial fibrillation initiation in manifest Wolff-Parkinson-White syndrome: a matter of reflection? Heart rhythm: the official journal of the Heart Rhythm Society. 2008; 5: 1238– 47. PMC2597634 18774096
  112. [120]Lowenstein SR, Gabow PA, Cramer J, Oliva PB and Ratner K. The role of alcohol in new-onset atrial fibrillation. Arch Intern Med. 1983; 143: 1882– 5. 6625772
  113. [121]Elosua R, Arquer A, Mont L, Sambola A, Molina L, Garcia-Moran E, Brugada J and Marrugat J. Sport practice and the risk of lone atrial fibrillation: a case-control study. Int J Cardiol. 2006; 108: 332– 7. 15963583
  114. [122]Mont L, Sambola A, Brugada J, Vacca M, Marrugat J, Elosua R, Pare C, Azqueta M and Sanz G. Long-lasting sport practice and lone atrial fibrillation. Eur Heart J. 2002; 23: 477– 82. 11863350
  115. [123]Gill J, Obley AJ and Prasad V. Direct-to-Consumer Genetic Testing: The Implications of the US FDA’s First Marketing Authorization for BRCA Mutation Testing. Jama. 2018; 319: 2377– 2378. 29800087
  116. [124]Go AS, Hylek EM, Phillips KA, Chang Y, Henault LE, Selby JV and Singer DE. Prevalence of diagnosed atrial fibrillation in adults: national implications for rhythm management and stroke prevention: the AnTicoagulation and Risk Factors in Atrial Fibrillation (ATRIA) Study. Jama. 2001; 285: 2370– 5. 11343485
  117. [125]Alonso A, Krijthe BP, Aspelund T, Simple risk model predicts incidence of atrial fibrillation in a racially and geographically diverse population: the CHARGE-AF consortium. J Am Heart Assoc. 2013; 2: e000102. 23537808 PMC3647274
  118. [126]Kolek MJ, Graves AJ, Xu M, Evaluation of a Prediction Model for the Development of Atrial Fibrillation in a Repository of Electronic Medical Records. JAMA cardiology. 2016; 1: 1007– 1013. 27732699 PMC5293184
  119. [127]Hulme OL, Khurshid S, Weng LC, Development and Validation of a Prediction Model for Atrial Fibrillation Using Electronic Health Records. JACC Clin Electrophysiol. 2019; 5: 1331– 1341. 31753441 PMC6884135
  120. [128]Said MA, Verweij N and van der Harst P. Associations of Combined Genetic and Lifestyle Risks With Incident Cardiovascular Disease and Diabetes in the UK Biobank Study. JAMA cardiology. 2018; 3: 693– 702. 29955826 PMC6143077
  121. [130]Allen NE, Sudlow C, Peakman T, Collins R and Biobank oboU. UK Biobank Data: Come and Get It. Science Translational Medicine. 2014; 6: 224ed4. 24553384
  122. [131]Gaziano JM, Concato J, Brophy M, Million Veteran Program: A mega-biobank to study genetic influences on health and disease. Journal of clinical epidemiology. 2016; 70: 214– 23. 26441289
  123. [132]Gottesman O, Kuivaniemi H, Tromp G, The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future. Genetics in medicine: official journal of the American College of Medical Genetics. 2013; 15: 761– 71. 23743551 PMC3795928
  124. [133]eMERGE. Harmonizing clinical sequencing and interpretation for the EMERGE III Network. American Journal of Human Genetics. 2019. PMC6731372 31447099
  125. [134]The “All of Us” Research Program. New England Journal of Medicine. 2019; 381: 668– 676. PMC8291101 31412182
  126. [136]Mostafavi H, Harpak A, Conley D, Pritchard JK and Przeworski M. Variable prediction accuracy of polygenic scores within an ancestry group. bioRxiv. 2019: 629949. PMC7067566 31999256
  127. [137]Lip GY, Nieuwlaat R, Pisters R, Lane DA and Crijns HJ. Refining clinical risk stratification for predicting stroke and thromboembolism in atrial fibrillation using a novel risk factor-based approach: the euro heart survey on atrial fibrillation. Chest. 2010; 137: 263– 72. 19762550
  128. [138]Pulit SL, Weng LC, McArdle PF, Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes. Neurol Genet. 2018; 4: e293. 30584597 PMC6283455
  129. [139]Ebana Y, Nitta J, Takahashi Y, Association of the Clinical and Genetic Factors With Superior Vena Cava Arrhythmogenicity in Atrial Fibrillation. Circ J. 2017; 82: 71– 77. 28804107
  130. [140]Husser D, Ueberham L, Dinov B, Genomic contributors to atrial electroanatomical remodeling and atrial fibrillation progression: Pathway enrichment analysis of GWAS data. Sci Rep. 2016; 6: 36630. 27857207 PMC5114680
  131. [141]Mohanty S, Hall AW, Mohanty P, Novel association of polymorphic genetic variants with predictors of outcome of catheter ablation in atrial fibrillation: new directions from a prospective study (DECAF). J Interv Card Electrophysiol. 2016; 45: 7– 17. 26497660
  132. [143]Amit G, Kikuchi K, Greener ID, Yang L, Novack V and Donahue JK. Selective molecular potassium channel blockade prevents atrial fibrillation. Circulation. 2010; 121: 2263– 70. 20479154 PMC2892844
  133. [144]Garg P, Oikonomopoulos A, Chen H, Genome Editing of Induced Pluripotent Stem Cells to Decipher Cardiac Channelopathy Variant. J Am Coll Cardiol. 2018; 72: 62– 75. 29957233 PMC6050025
  134. [145]Argenziano M, Lambers E, Hong L, Electrophysiologic Characterization of Calcium Handling in Human Induced Pluripotent Stem Cell-Derived Atrial Cardiomyocytes. Stem Cell Reports. 2018; 10: 1867– 1878. 29731429 PMC5989733
  135. [146]Chen YH, Xu SJ, Bendahhou S, KCNQ1 gain-of-function mutation in familial atrial fibrillation. Science. 2003; 299: 251– 4. 12522251
  136. [147]Zhang X, Chen S, Yoo S, Mutation in nuclear pore component NUP155 leads to atrial fibrillation and early sudden cardiac death. Cell. 2008; 135: 1017– 27. 19070573
  137. [148]Olson TM, Michels VV, Ballew JD, Reyna SP, Karst ML, Herron KJ, Horton SC, Rodeheffer RJ and Anderson JL. Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. Jama. 2005; 293: 447– 54. 15671429 PMC2039897
  138. [149]Hodgson-Zingman DM, Karst ML, Zingman LV, Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation. N Engl J Med. 2008; 359: 158– 65. 18614783 PMC2518320

Authors
Shoemaker, M. B., Shah, R. L., Roden, D. M., & Perez, M. V.
Affiliations
  • Vanderbilt University Medical Center (US)
  • Stanford Medicine (US)
Corresponding author
  • Roden, Dan M.
  • Perez, Marco V.
Venue
Circulation Research
Published
2020-06-19
Volume
127
Issue
1
Pages
111-127
ISSN
  • 0009-7330 (ISSN-L)
  • 1524-4571
OpenAlex
W3035928256
Cited by
27
References
145
Citations by year
2026: 2 · 2025: 4 · 2024: 9 · 2023: 3 · 2022: 2 · 2021: 4 · 2020: 3
FWCI
0.51
Type
journal article
Language
en
Open access
Locations
  • Circulation Research (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
Funders
National Heart, Lung, and Blood Institute (R01HL136390, R01HL149826, K23HL127704)
Topics
  • Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Atrial Fibrillation Management and Outcomes
  • Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords
atrial fibrillation, genetic susceptibility, genetic variants, genetic testing, risk prediction, family history (medicine), sleep apnea, inflammation, diabetes mellitus, hypertension, cardiovascular comorbidity, stroke prevention, heart failure prevention, personalized treatment
MeSH terms
Atrial Fibrillation, Genetic Testing, Humans, Polymorphism, Genetic, Genetic Predisposition to Disease, Precision Medicine

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review