The symptom complex of familial sinus node dysfunction and myocardial noncompaction is associated with mutations in the HCN4 channel

Journal of the American College of Cardiology

Volumn 64, Issue 8, 2014, Pages 757-767

  Schweizer, Patrick A ^a   Schröter, Julian ^a   Greiner, Sebastian ^a   Haas, Jan ^a   Yampolsky, Pessah ^a   Mereles, Derliz ^a   Buss, Sebastian J ^a   Seyler, Claudia ^a   Bruehl, Claus ^a   Draguhn, Andreas ^a   Koenen, Michael ^a,b   Meder, Benjamin ^a   Katus, Hugo A ^a   Thomas, Dierk ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b MAX PLANCK INSTITUTE FOR MEDICAL RESEARCH   (Germany)

Author keywords

HCN4; noncompaction cardiomyopathy; overlap syndrome; sinus node dysfunction

Indexed keywords

CYSTEINE AND GLYCINE RICH PROTEIN 3; HYPERPOLARIZATION ACTIVATED CYCLIC NUCLEOTIDE GATED CHANNEL; HYPERPOLARIZATION ACTIVATED CYCLIC NUCLEOTIDE GATED CHANNEL 4; LIM PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CARDIOVASCULAR MAGNETIC RESONANCE; CASE REPORT; CAUSAL ATTRIBUTION; CLINICAL FEATURE; COHORT ANALYSIS; CONGESTIVE CARDIOMYOPATHY; CSRP3 GENE; DISEASE ASSOCIATION; DUAL CHAMBER PACEMAKER; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; EXERCISE TEST; FAMILIAL DISEASE; FIRST DEGREE ATRIOVENTRICULAR BLOCK; FOLLOW UP; GENE; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HCN4 GENE; HEART LEFT VENTRICLE EJECTION FRACTION; HEART VENTRICLE BIGEMINY; HOLTER MONITORING; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; MITRAL VALVE PROLAPSE; MUTATIONAL ANALYSIS; PATCH CLAMP TECHNIQUE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SINUS BRADYCARDIA; SINUS NODE DISEASE; SYMPTOMATOLOGY; T WAVE INVERSION; TRUNCATION MUTATION; VENTRICULAR NONCOMPACTION; WILD TYPE;

HCN4; NONCOMPACTION CARDIOMYOPATHY; OVERLAP SYNDROME; SINUS NODE DYSFUNCTION;

ADOLESCENT; ANIMALS; ECHOCARDIOGRAPHY; ELECTROPHYSIOLOGIC TECHNIQUES, CARDIAC; FEMALE; GERMANY; HEART DEFECTS, CONGENITAL; HEK293 CELLS; HUMANS; HYPERPOLARIZATION-ACTIVATED CYCLIC NUCLEOTIDE-GATED CHANNELS; MALE; MEMBRANE POTENTIALS; MIDDLE AGED; MUSCLE PROTEINS; PEDIGREE; PHENOTYPE; POTASSIUM CHANNELS; PREVALENCE; SICK SINUS SYNDROME; SYNDROME; YOUNG ADULT;

EID: 84907951730     PISSN: 07351097     EISSN: 15583597     Source Type: Journal    
DOI: 10.1016/j.jacc.2014.06.1155     Document Type: Article

References (30)

1. E.N. Oechslin, C.H. Attenhofer Jost, and J.R. Rojas et al. Long-term follow-up of 34 adults with isolated left ventricular noncompaction: a distinct cardiomyopathy with poor prognosis J Am Coll Cardiol 36 2000 493 500
2. E. Oechslin, and R. Jenni Left ventricular non-compaction revisited: a distinct phenotype with genetic heterogeneity? Eur Heart J 32 2011 1446 1456
3. G. Luxán, J.C. Casanova, and B. Martínez-Poveda et al. Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy Nat Med 19 2013 193 201
4. M. Hermida-Prieto, L. Monserrat, and A. Castro-Beiras et al. Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations Am J Cardiol 94 2004 50 54
5. M. Vatta, B. Mohapatra, and S. Jimenez et al. Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction J Am Coll Cardiol 42 2003 2014 2027
6. D. DiFrancesco, and P. Tortora Direct activation of cardiac pacemaker channels by intracellular cyclic AMP Nature 351 1991 145 147
7. P.A. Schweizer, P. Yampolsky, and R. Malik et al. Transcription profiling of HCN-channel isotypes throughout mouse cardiac development Basic Res Cardiol 104 2009 621 629
8. M. Baruscotti, A. Bucchi, and C. Viscomi et al. Deep bradycardia and heart block caused by inducible cardiac-specific knockout of the pacemaker channel gene Hcn4 Proc Natl Acad Sci U S A 108 2011 1705 1710
9. R. Milanesi, M. Baruscotti, T. Gnecchi-Ruscone, and D. DiFrancesco Familial sinus bradycardia associated with a mutation in the cardiac pacemaker channel N Engl J Med 354 2006 151 157
10. E. Schulze-Bahr, A. Neu, and P. Friederich et al. Pacemaker channel dysfunction in a patient with sinus node disease J Clin Invest 111 2003 1537 1545
11. P.A. Schweizer, N. Duhme, and D. Thomas et al. cAMP sensitivity of HCN pacemaker channels determines basal heart rate but is not critical for autonomic rate control Circ Arrhythm Electrophysiol 1 2010 542 552
12. N. Duhme, P.A. Schweizer, and D. Thomas et al. Altered HCN4 channel C-linker interaction is associated with familial tachycardia-bradycardia syndrome and atrial fibrillation Eur Heart J 34 2013 2768 2775
13. S. Zicha, M. Fernández-Velasco, and G. Lonardo et al. Sinus node dysfunction and hyperpolarization-activated (HCN) channel subunit remodeling in a canine heart failure model Cardiovasc Res 66 2005 472 481
14. T.D. Butters, O.V. Aslanidi, and S. Inada et al. Mechanistic links between Na+ channel (SCN5A) mutations and impaired cardiac pacemaking in sick sinus syndrome Circ Res 107 2010 126 137
15. H. Holm, D.F. Gudbjartsson, and P. Sulem et al. A rare variant in MYH6 is associated with high risk of sick sinus syndrome Nat Genet 43 2011 316 320
16. A.V. Glukhov, A. Kalyanasundaram, and Q. Lou et al. Calsequestrin 2 deletion causes sinoatrial node dysfunction and atrial arrhythmias associated with altered sarcoplasmic reticulum calcium cycling and degenerative fibrosis within the mouse atrial pacemaker complex Eur Heart J 2013 Nov 11 [E-pub ahead of print]
17. B. Mohapatra, S. Jimenez, and J.H. Lin et al. Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis Mol Genet Metab 80 2003 207 215
18. B. Newman, D. Cescon, and A. Woo et al. W4R variant in CSRP3 encoding muscle LIM protein in a patient with hypertrophic cardiomyopathy Mol Genet Metab 84 2005 374 375
19. J.M. Bos, R.N. Poley, and M. Ny et al. Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin Mol Genet Metab 88 2006 78 85
20. A. Ludwig, X. Zong, and J. Stieber et al. Two pacemaker channels from human heart with profoundly different activation kinetics EMBO J 18 1999 2323 2329
21. G. Captur, and P. Nihoyannopoulos Left ventricular non-compaction: Genetic heterogeneity, diagnosis and clinical course Int J Cardiol 140 2010 145 153
22. M. Luedde, P. Ehlermann, and D. Weichenhan et al. Severe familial left ventricular non-compaction cardiomyopathy due to a novel troponin T (TNNT2) mutation Cardiovasc Res 86 2010 452 460
23. X. Liang, G. Wang, and L. Lin et al. HCN4 dynamically marks the first heart field and conduction system precursors Circ Res 113 2013 399 407
24. D. Später, M.K. Abramczuk, and K. Buac et al. A HCN4+ cardiomyogenic progenitor derived from the first heart field and human pluripotent stem cells Nat Cell Biol 15 2013 1098 1106
25. J.A. Towbin Left ventricular noncompaction: a new form of heart failure Heart Fail Clin 6 2010 453 469
26. L.A. Samsa, B. Yang, and J. Liu Embryonic cardiac chamber maturation: Trabeculation, conduction, and cardiomyocyte proliferation Am J Med Genet C Semin Med Genet 163C 2013 157 168
27. J. Stieber, S. Herrmann, and S. Feil et al. The hyperpolarization- activated channel HCN4 is required for the generation of pacemaker action potentials in the embryonic heart Proc Natl Acad Sci U S A 100 2003 15235 15240
28. C. Semsarian, M.J. Healey, and D. Fatkin et al. A polymorphic modifier gene alters the hypertrophic response in a murine model of familial hypertrophic cardiomyopathy J Mol Cell Cardiol 33 2001 2055 2060
29. R. Knöll, S. Kostin, and S. Klede et al. A common MLP (muscle LIM protein) variant is associated with cardiomyopathy Circ Res 106 2010 695 704
30. A. Sizarov, H.D. Devalla, R.H. Anderson, R. Passier, V.M. Christoffels, and A.F. Moorman Molecular analysis of patterning of conduction tissues in the developing human heart Circ Arrhythm Electrophysiol 4 2011 532 542