Wenckebach periodicity at rest that normalizes with tachycardia in a family with a NKX2.5 mutation

American Journal of Cardiology

Volumn 110, Issue 11, 2012, Pages 1646-1650

  Guntheroth, Warren ^a   Chun, Lani ^b   Patton, Kristen K ^b   Matsushita, Mark M ^a   Page, Richard L ^c   Raskind, Wendy H ^a,b  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; TRANSCRIPTION FACTOR NKX2.5;

ADULT; AGED; ANAMNESIS; ARTICLE; ATHLETE; AUTOSOMAL DOMINANT INHERITANCE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CONTROLLED STUDY; DNA SEQUENCE; ELECTROCARDIOGRAM; EXERCISE; FAMILY; FEMALE; FIRST DEGREE ATRIOVENTRICULAR BLOCK; FRAMESHIFT MUTATION; GENE DELETION; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL; SINUS TACHYCARDIA; VENTRICULAR NONCOMPACTION; WENCKEBACH PERIOD;

ADULT; AGED; AGED, 80 AND OVER; ATRIOVENTRICULAR BLOCK; DNA; DNA MUTATIONAL ANALYSIS; ELECTROCARDIOGRAPHY; FEMALE; HEART RATE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; REST; TACHYCARDIA; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 84869097640     PISSN: 00029149     EISSN: 18791913     Source Type: Journal    
DOI: 10.1016/j.amjcard.2012.07.033     Document Type: Article

References (30)

1. P. Zeppilli, R. Feneci, M. Sassara, M.M. Pirrami, G. Xaselli Wenckebach second-degree A-V block in top-ranking athletes: an old problem revisited Am Heart J 100 1980 281 293
2. M.T. Viitasalo, R. Kala, A. Eisalo Ambulatory electrocardiographic recordings in endurance athletes Br Heart J 47 1982 213 220
3. M. Zehender, T. Meinertz, J. Keul, H. Just ECG variants and cardiac arrhythmias in athletes: clinical relevance and prognostic importance Am Heart J 119 1990 1378 1391
4. H. Bjornstad, L. Storstein, H.D. Meen, O. Hals Ambulatory electrocardiographic findings in top athletes, athletic students and control subjects Cardiology 84 1994 42 50
5. I. Gutierrez-Roelens, T. Sluysmans, M. Gewillig, K. Devriendt, M. Vikkula Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene Hum Mutat 20 2002 75 76
6. D.B. McElhinney, E. Geiger, J. Blinder, D.W. Benson, E. Goldmuntz NKX2.5 mutations in patients with congenital heart disease J Am Coll Cardiol 42 2003 1650 1655
7. J.J. Schott, D.W. Benson, C.T. Basson, W. Pease, G.M. Silberbach, J.P. Moak, B.J. Maron, C.E. Seidman, J.G. Seidman Congenital heart disease caused by mutations in the transcription factor NKX2-5 Science 281 1998 108 111
8. T. Hosoda, I. Komuro, I. Shiojima, Y. Hiroi, M. Harada, Y. Murakawa, Y. Hirata, Y. Yazaki Familial atrial septal defect and atrioventricular conduction disturbance associated with a point mutation in the cardiac homeobox gene CSX/NKX2-5 in a Japanese patient Jpn Circ J 63 1999 425 426
9. G.C. Elliott, M. Sargurupremraj, U. Velupandian, R. Gurtu, D. Trump, W. Newman, T. Wang, C. McCollum Genetics of patent foramen ovale - NKX2-5 and beyond Clin Neurol Neurosurg 112 2010 457 458
10. A. Sarkozy, E. Conti, C. Neri, R. D'Agostino, M.C. Digilio, G. Esposito, A. Toscano, B. Marino, A. Pizzuti, B. Dallapiccola Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors J Med Genet 42 2005 e16
11. I. Gutierrez-Roelens, L. De Roy, C. Ovaert, T. Sluysmans, K. Devriendt, H.G. Brunner, M. Vikkula A novel CSX/NKX2-5 mutation causes autosomal-dominant AV block: are atrial fibrillation and syncopes part of the phenotype? Eur J Hum Genet 14 2006 1313 1316
12. P.G. Bjornstad, T.P. Leren Familial atrial septal defect in the oval fossa with progressive prolongation of the atrioventricular conduction caused by mutations in the NKX2.5 gene Cardiol Young 19 2009 40 44
13. D.W. Benson, G.M. Silberbach, A. Kavanaugh-McHugh, C. Cottrill, Y. Zhang, S. Riggs, O. Smalls, M.C. Johnson, M.S. Watson, J.G. Seidman, C.E. Seidman, J. Plowden, J.D. Kugler Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways J Clin Invest 104 1999 1567 1573
14. E. Goldmuntz, E. Geiger, D.W. Benson NKX2.5 mutations in patients with tetralogy of Fallot Circulation 104 2001 2565 2568
15. T. Peng, L. Wang, S.F. Zhou, X. Li Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease Genetica 138 2010 1231 1240
16. R. Rauch, M. Hofbeck, C. Zweier, A. Koch, S. Zink, U. Trautmann, J. Hoyer, R. Kaulitz, H. Singer, A. Rauch Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot J Med Genet 47 2010 321 331
17. B. Stallmeyer, H. Fenge, U. Nowak-Göttl, E. Schulze-Bahr Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease Clin Genet 78 2010 533 540
18. S.M. Reamon-Buettner, J. Borlak NKX2-5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD) Hum Mutat 31 2010 1185 1194
19. K.F. Wenckebach Zur Analyse des unregelmassigne Pulses. II Z Klin Med 37 1899 475 488
20. H.E. Herring Nachweiss, dass die Versogerung der Erregungsuberleitung zwischen Vorjof und Kammer des saugetierherzens in Tawarashcen Knoten erfolgt Arch Ges Physiol 572 1910
21. G.K. Moe, J.B. Preston, H. Burlington Physiologic evidence for a dual A-V transmission system Circ Res 4 1956 357 375
22. A.M. Scher, M.I. Rodreiguez, J. Lukane, A.C. Young The mechanism of atrioventricular conduction Circ Res 7 1958 54 61
23. B.F. Hoffman, A. Paes de Carvalho, W.C. deMello Electrical activity of single fibers of the atrioventricular node Circ Res 7 1959 11 18
24. A. Rosenblueth Mechanism of the Wenckebach-Luciani cycles Am J Physiol 194 1958 491 494
25. Y. Zhang, T.N. Mazgalev AV nodal dual pathway electrophysiology and Wenckebach periodicity J Cardiovasc Electrophysiol 22 2011 1256 1262
26. D.K. Racker, A.H. Kadish Proximal atrioventricular bundle, Atrioventricular node, and distal atrioventricular bundle are distinct anatomic structures with unique histological characteristics and innervation Circulation 101 2000 1049 1059
27. P. Ouyang, E. Saarel, Y. Bai, C. Luo, Q. Lv, Y. Xu, F. Wang, C. Fan, A. Younoszai, Q. Chen, X. Tu, Q.K. Wang A de novo mutation in NKX2.5 associated with atrial septal defects, ventricular noncompaction, syncope and sudden death Clin Chim Acta 412 2011 170 175 14
28. R. Engberding, F. Bender Identification of a rare congenital anomaly of the myocardium by two-dimensional echocardiography: persistence of isolated myocardial sinusoids Am J Cardiol 53 1984 1733 1734
29. W.C. Roberts, S.J. Karia, J.M. Ko, P.A. Grayburn, B.A. George, S.A. Hall, J.J. Kuiper, D.M. Meyer Examination of isolated ventricular noncompaction (hypertrabeculation) as a distinct entity in adults Am J Cardiol 108 2011 747 752
30. W. Guntheroth, C. Komarniski, W. Atkinson, C.L. Fligner Criterion for fetal primary spongiform cardiomyopathy: restrictive pathophysiology Obstet Gynecol 99 2002 882 885