Genetics of sick sinus syndrome

Cardiac Electrophysiology Clinics

Volumn 2, Issue 4, 2010, Pages 499-507

  Anderson, Jeffrey B ^a   Benson, D Woodrow ^a  

^a UNIVERSITY OF CINCINNATI   (United States)

Author keywords

Connexins; HCN; SCN5A; Sick sinus syndrome; Sinus node

Indexed keywords

CONNEXIN 40; CONNEXIN 43; CONNEXIN 45; GAP JUNCTION PROTEIN; ION CHANNEL; MEMBRANE PROTEIN;

ARTIFICIAL HEART PACEMAKER; CALCIUM CURRENT; ELECTROCARDIOGRAPHY; GENE MUTATION; HEART MUSCLE CONDUCTION DISTURBANCE; HEART MUSCLE CONDUCTION SYSTEM; HEART VENTRICLE FIBRILLATION; HUMAN; IDIOPATHIC DISEASE; LONG QT SYNDROME; NONHUMAN; PATHOPHYSIOLOGY; POTASSIUM CURRENT; PRIORITY JOURNAL; REVIEW; SICK SINUS SYNDROME; SINUS NODE; SODIUM CURRENT;

EID: 78649394979     PISSN: 18779182     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ccep.2010.09.001     Document Type: Review

References (60)

1. Lown B. Electrical reversion of cardiac arrhythmias. Br Heart J 1967, 29(4):469-489.
2. Ferrer M.I. The sick sinus syndrome in atrial disease. JAMA 1968, 206(3):645-646.
3. Brignole M. Sick sinus syndrome. Clin Geriatr Med 2002, 18(2):211-227.
4. Benson D.W., Wang D.W., Dyment M., et al. Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J Clin Invest 2003, 112(7):1019-1028.
5. Keith A., Flack M. The form and nature of the muscular connections between the primary divisions of the vertebrate heart. J Anat Physiol 1907, 41(Pt 3):172-189.
6. Opthof T. The mammalian sinoatrial node. Cardiovasc Drugs Ther 1988, 1(6):573-597.
7. Edwards W. Cardiac anatomy and examination of cardiac specimens. Moss and Adams heart disease in infants, children, and adolescents 2008, vol. 1. 7th edition:2-33. Lippincott Williams and Wilkins, Philadelphia. H.D. Allen, D.J. Driscoll, R.E. Shaddy (Eds.).
8. Boyett M.R., Tellez J., Dobrzynski H. The sinoatrial node: its complex structure and unique ion channel gene program. Cardiac electrophysiology: from cell to bedside 2009, vol. 5:127-138. W.B. Saunders, Philadelphia. Zipes, J. Jalife (Eds.).
9. Anderson R.H., Becker A.E. Anatomy of the conduction tissues and accessory atrioventricular connections. Cardiac electrophysiology from cell to bedside 1990, 240-248. W.B. Saunders, Philadelphia. D.P. Zipes, J. Jalife (Eds.).
10. Boyett M.R., Honjo H., Kodama I. The sinoatrial node, a heterogeneous pacemaker structure. Cardiovasc Res 2000, 47(4):658-687.
11. Dobrzynski H., Li J., Tellez J., et al. Computer three-dimensional reconstruction of the sinoatrial node. Circulation 2005, 111(7):846-854.
12. Wittwer M., Fluck M., Hoppeler H., et al. Prolonged unloading of rat soleus muscle causes distinct adaptations of the gene profile. FASEB J 2002, 16(8):884-886.
13. Vitadello M., Colpo P., Gorza L. Rabbit cardiac and skeletal myocytes differ in constitutive and inducible expression of the glucose-regulated protein GRP94. Biochem J 1998, 332(Pt 2):351-359.
14. Jansen J.A., van Veen T.A., de Bakker J.M., et al. Cardiac connexins and impulse propagation. J Mol Cell Cardiol 2010, 48(1):76-82.
15. Saez J.C., Berthoud V.M., Branes M.C., et al. Plasma membrane channels formed by connexins: their regulation and functions. Physiol Rev 2003, 83(4):1359-1400.
16. van Veen A.A., van Rijen H.V., Opthof T. Cardiac gap junction channels: modulation of expression and channel properties. Cardiovasc Res 2001, 51(2):217-229.
17. Weingart R. Biophysical properties of gap junctions. Cardiac electrophysiology: from cell to bedside 2009, vol. 5:149-155. W.B. Saunders, Philadelphia. J. Zipes, Jalife (Ed.).
18. Saffitz J.E., Green K.G., Schuessler R.B. Structural determinants of slow conduction in the canine sinus node. J Cardiovasc Electrophysiol 1997, 8(7):738-744.
19. Jongsma H.J. Diversity of gap junctional proteins: does it play a role in cardiac excitation?. J Cardiovasc Electrophysiol 2000, 11(2):228-230.
20. Davis L.M., Rodefeld M.E., Green K., et al. Gap junction protein phenotypes of the human heart and conduction system. J Cardiovasc Electrophysiol 1995, 6(10 Pt 1):813-822.
21. Wilders R., Verheijck E.E., Kumar R., et al. Model clamp and its application to synchronization of rabbit sinoatrial node cells. Am J Physiol 1996, 271(5 Pt 2):H2168-H2182.
22. Bagwe S., Berenfeld O., Vaidya D., et al. Altered right atrial excitation and propagation in connexin40 knockout mice. Circulation 2005, 112(15):2245-2253.
23. Eckardt D., Theis M., Degen J., et al. Functional role of connexin43 gap junction channels in adult mouse heart assessed by inducible gene deletion. J Mol Cell Cardiol 2004, 36(1):101-110.
24. Thomas S.A., Schuessler R.B., Berul C.I., et al. Disparate effects of deficient expression of connexin43 on atrial and ventricular conduction: evidence for chamber-specific molecular determinants of conduction. Circulation 1998, 97(7):686-691.
25. VanderBrink B.A., Sellitto C., Saba S., et al. Connexin40-deficient mice exhibit atrioventricular nodal and infra-Hisian conduction abnormalities. J Cardiovasc Electrophysiol 2000, 11(11):1270-1276.
26. Verheule S., van Batenburg C.A., Coenjaerts F.E., et al. Cardiac conduction abnormalities in mice lacking the gap junction protein connexin40. J Cardiovasc Electrophysiol 1999, 10(10):1380-1389.
27. Beauchamp P., Yamada K.A., Baertschi A.J., et al. Relative contributions of connexins 40 and 43 to atrial impulse propagation in synthetic strands of neonatal and fetal murine cardiomyocytes. Circ Res 2006, 99(11):1216-1224.
28. Kanagaratnam P., Rothery S., Patel P., et al. Relative expression of immunolocalized connexins 40 and 43 correlates with human atrial conduction properties. J Am Coll Cardiol 2002, 39(1):116-123.
29. Honjo H., Boyett M.R., Kodama I., et al. Correlation between electrical activity and the size of rabbit sino-atrial node cells. J Physiol 1996, 496(Pt 3):795-808.
30. Kodama I., Nikmaram M.R., Boyett M.R., et al. Regional differences in the role of the Ca2+ and Na+ currents in pacemaker activity in the sinoatrial node. Am J Physiol 1997, 272(6 Pt 2):H2793-H2806.
31. Lei M., Jones S.A., Liu J., et al. Requirement of neuronal- and cardiac-type sodium channels for murine sinoatrial node pacemaking. J Physiol 2004, 559(Pt 3):835-848.
32. Tellez J.O., Dobrzynski H., Greener I.D., et al. Differential expression of ion channel transcripts in atrial muscle and sinoatrial node in rabbit. Circ Res 2006, 99(12):1384-1393.
33. Ono K., Iijima T. Pathophysiological significance of T-type Ca2+ channels: properties and functional roles of T-type Ca2+ channels in cardiac pacemaking. J Pharmacol Sci 2005, 99(3):197-204.
34. DiFrancesco D., Tortora P. Direct activation of cardiac pacemaker channels by intracellular cyclic AMP. Nature 1991, 351(6322):145-147.
35. Baruscotti M., Bucchi A., Difrancesco D. Physiology and pharmacology of the cardiac pacemaker (" funny" ) current. Pharmacol Ther 2005, 107(1):59-79.
36. Borer J.S., Fox K., Jaillon P., et al. Antianginal and antiischemic effects of ivabradine, an I(f) inhibitor, in stable angina: a randomized, double-blind, multicentered, placebo-controlled trial. Circulation 2003, 107(6):817-823.
37. Leoni A.L., Marionneau C., Demolombe S., et al. Chronic heart rate reduction remodels ion channel transcripts in the mouse sinoatrial node but not in the ventricle. Physiol Genomics 2005, 24(1):4-12.
38. Barbuti A., Baruscotti M., DiFrancesco D. The pacemaker current: from basics to the clinics. J Cardiovasc Electrophysiol 2007, 18(3):342-347.
39. Shi W., Wymore R., Yu H., et al. Distribution and prevalence of hyperpolarization-activated cation channel (HCN) mRNA expression in cardiac tissues. Circ Res 1999, 85(1):e1-e6.
40. Schulze-Bahr E., Neu A., Friederich P., et al. Pacemaker channel dysfunction in a patient with sinus node disease. J Clin Invest 2003, 111(10):1537-1545.
41. Mangoni M.E., Nargeot J. Genesis and regulation of the heart automaticity. Physiol Rev 2008, 88(3):919-982.
42. Herrmann S., Stieber J., Stockl G., et al. HCN4 provides a 'depolarization reserve' and is not required for heart rate acceleration in mice. EMBO J 2007, 26(21):4423-4432.
43. Alig J., Marger L., Mesirca P., et al. Control of heart rate by cAMP sensitivity of HCN channels. Proc Natl Acad Sci U S A 2009, 106(29):12189-12194.
44. Dobrzynski H., Boyett M.R., Anderson R.H. New insights into pacemaker activity: promoting understanding of sick sinus syndrome. Circulation 2007, 115(14):1921-1932.
45. Chandler N.J., Greener I.D., Tellez J.O., et al. Molecular architecture of the human sinus node: insights into the function of the cardiac pacemaker. Circulation 2009, 119(12):1562-1575.
46. Ju Y.K., Chu Y., Chaulet H., et al. Store-operated Ca2+ influx and expression of TRPC genes in mouse sinoatrial node. Circ Res 2007, 100(11):1605-1614.
47. Schram G., Pourrier M., Melnyk P., et al. Differential distribution of cardiac ion channel expression as a basis for regional specialization in electrical function. Circ Res 2002, 90(9):939-950.
48. Joyner R.W., van Capelle F.J. Propagation through electrically coupled cells. How a small SA node drives a large atrium. Biophys J 1986, 50(6):1157-1164.
49. Nof E., Luria D., Brass D., et al. Point mutation in the HCN4 cardiac ion channel pore affecting synthesis, trafficking, and functional expression is associated with familial asymptomatic sinus bradycardia. Circulation 2007, 116(5):463-470.
50. Wang Q., Shen J., Li Z., et al. Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. Hum Mol Genet 1995, 4(9):1603-1607.
51. Vatta M., Dumaine R., Varghese G., et al. Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. Hum Mol Genet 2002, 11(3):337-345.
52. Tan H.L., Bink-Boelkens M.T., Bezzina C.R., et al. A sodium-channel mutation causes isolated cardiac conduction disease. Nature 2001, 409(6823):1043-1047.
53. Schott J.J., Alshinawi C., Kyndt F., et al. Cardiac conduction defects associate with mutations in SCN5A. Nat Genet 1999, 23(1):20-21.
54. Lei M., Huang C.L., Zhang Y. Genetic Na+ channelopathies and sinus node dysfunction. Prog Biophys Mol Biol 2008, 98(2-3):171-178.
55. Makita N., Sasaki K., Groenewegen W.A., et al. Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms. Heart Rhythm 2005, 2(10):1128-1134.
56. Groenewegen W.A., Firouzi M., Bezzina C.R., et al. A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill. Circ Res 2003, 92(1):14-22.
57. Cai J., Lin G., Jiang H., et al. Transplanted neonatal cardiomyocytes as a potential biological pacemaker in pigs with complete atrioventricular block. Transplantation 2006, 81(7):1022-1026.
58. Lin G., Cai J., Jiang H., et al. Biological pacemaker created by fetal cardiomyocyte transplantation. J Biomed Sci 2005, 12(3):513-519.
59. Rosen M.R., Robinson R.B., Brink P., et al. Recreating the biological pacemaker. Anat Rec A Discov Mol Cell Evol Biol 2004, 280(2):1046-1052.
60. Xue T., Cho H.C., Akar F.G., et al. Functional integration of electrically active cardiac derivatives from genetically engineered human embryonic stem cells with quiescent recipient ventricular cardiomyocytes: insights into the development of cell-based pacemakers. Circulation 2005, 111(1):11-20.