Circulation. 2003;107:2227-2232
Published online before print April 21, 2003, doi: 10.1161/01.CIR.0000066323.15244.54
Published online before print April 21, 2003, doi: 10.1161/01.CIR.0000066323.15244.54
| |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
(Circulation. 2003;107:2227.)
© 2003 American Heart Association, Inc.
Clinical Investigation and Reports |
Hypertrophic Cardiomyopathy
Distribution of Disease Genes, Spectrum of Mutations, and Implications for a Molecular Diagnosis Strategy
From the UF Cardio-Myogénétique, Service de Biochimie (P.R., C.L., T.C., C.P., B.H.), the Département de Génétique (P.C.), INSERM U582 (P.R., L.C., K.S., B.H.), and Institut de Cardiologie (P.C., A.B., R.I., M.K.), Hôpital de la Salpêtrière, Paris, France; the Service de Cardiologie, Hôpital Ambroise Paré, Boulogne, France (O.D.); the Service de Cardiologie, Nantes, France (M.B., J.-P.G.); the Service de Cardiologie, Lilles, France (A.M.); and Service de Cardiologie, Hôpital Européen Georges Pompidou, Paris, France (M.D.). P.R., P.C., C.L., T.C., C.P., A.B., R.I., B.H., and M.K. are members of Assistance Publique, Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière; P.R., P.C., L.C., C.L., T.C., C.P., A.B., R.I., K.S., B.H., and M.K. are members of Institut Fédératif de Recherche 14 "C
ur, Muscle, Vaisseaux," Groupe Hospitalier Pitié-Salpêtrière, France.
Correspondence to Dr P. Richard, UF de Cardiogénétique et Myogénétique, Service de Biochimie B, Hôpital de la Salpêtrière, 47 Bld de l’Hôpital, 75651 Paris Cedex 13, France. E-mail pascale.richard{at}psl.ap-hop-paris.fr
Background— Hypertrophic cardiomyopathy is an autosomal-dominant disorder in which 10 genes and numerous mutations have been reported. The aim of the present study was to perform a systematic screening of these genes in a large population, to evaluate the distribution of the disease genes, and to determine the best molecular strategy in clinical practice.
Methods and Results— The entire coding sequences of 9 genes (MYH7, MYBPC3, TNNI3, TNNT2, MYL2, MYL3, TPM1, ACTC, andTNNC1) were analyzed in 197 unrelated index cases with familial or sporadic hypertrophic cardiomyopathy. Disease-causing mutations were identified in 124 index patients (
63%), and 97 different mutations, including 60 novel ones, were identified. The cardiac myosin-binding protein C (MYBPC3) and ß-myosin heavy chain (MYH7) genes accounted for 82% of families with identified mutations (42% and 40%, respectively). Distribution of the genes varied according to the prognosis (P=0.036). Moreover, a mutation was found in 15 of 25 index cases with "sporadic" hypertrophic cardiomyopathy (60%). Finally, 6 families had patients with more than one mutation, and phenotype analyses suggested a gene dose effect in these compound-heterozygous, double-heterozygous, or homozygous patients.
Conclusion— These results might have implications for genetic diagnosis strategy and, subsequently, for genetic counseling. First, on the basis of this experience, the screening of already known mutations is not helpful. The analysis should start by testing MYBPC3 and MYH7 and then focus on TNNI3, TNNT2, and MYL2. Second, in particularly severe phenotypes, several mutations should be searched. Finally, sporadic cases can be successfully screened.
Key Words: hypertrophy • cardiomyopathy • genetics • prognosis
Related Article:
Circulation 2003 107: 2171-2174.
This article has been cited by other articles:
 |
|
 |
|
  S. Gupta, T. Baman, and S. M. Day Cardiovascular Health, Part 1: Preparticipation Cardiovascular Screening Sports Health: A Multidisciplinary Approach, November 1, 2009; 1(6): 500 - 507. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Michels, O. I.I. Soliman, J. Phefferkorn, Y. M. Hoedemaekers, M. J. Kofflard, D. Dooijes, D. Majoor-Krakauer, and F. J. Ten Cate Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriers Eur. Heart J., November 1, 2009; 30(21): 2593 - 2598. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R J Sung and N-Y Chan Practice viewpoints: AICD, who and when? Heart Asia, October 15, 2009; 2009(10): 7 - 9. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. P. Kaski, P. Syrris, M. T. T. Esteban, S. Jenkins, A. Pantazis, J. E. Deanfield, W. J. McKenna, and P. M. Elliott Prevalence of Sarcomere Protein Gene Mutations in Preadolescent Children With Hypertrophic Cardiomyopathy Circ Cardiovasc Genet, October 1, 2009; 2(5): 436 - 441. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. Ghio, M. Revera, F. Mori, C. Klersy, A. Raisaro, C. Raineri, A. Serio, M. Pasotti, and L. O. Visconti Regional abnormalities of myocardial deformation in patients with hypertrophic cardiomyopathy: correlations with delayed enhancement in cardiac magnetic resonance Eur J Heart Fail, October 1, 2009; 11(10): 952 - 957. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 O. Tsukamoto, T. Minamino, and M. Kitakaze Functional alterations of cardiac proteasomes under physiological and pathological conditions Cardiovasc Res, September 4, 2009; (2009) cvp282v2. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. Carrier, S. Schlossarek, M. S. Willis, and T. Eschenhagen Ubiquitin-proteasome system and nonsense-mediated mRNA decay in hypertrophic cardiomyopathy Cardiovasc Res, August 10, 2009; (2009) cvp247v2. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 N. Vignier, S. Schlossarek, B. Fraysse, G. Mearini, E. Kramer, H. Pointu, N. Mougenot, J. Guiard, R. Reimer, H. Hohenberg, et al. Nonsense-Mediated mRNA Decay and Ubiquitin-Proteasome System Regulate Cardiac Myosin-Binding Protein C Mutant Levels in Cardiomyopathic Mice Circ. Res., July 31, 2009; 105(3): 239 - 248. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
F. W. Friedrich, P. Bausero, Y. Sun, A. Treszl, E. Kramer, D. Juhr, P. Richard, K. Wegscheider, K. Schwartz, D. Brito, et al. A new polymorphism in human calmodulin III gene promoter is a potential modifier gene for familial hypertrophic cardiomyopathy Eur. Heart J., July 1, 2009; 30(13): 1648 - 1655. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R. E. Hershberger, J. Cowan, A. Morales, and J. D. Siegfried Progress With Genetic Cardiomyopathies: Screening, Counseling, and Testing in Dilated, Hypertrophic, and Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Circ Heart Fail, May 1, 2009; 2(3): 253 - 261. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. F. Shaffer, R. W. Kensler, and S. P. Harris The Myosin-binding Protein C Motif Binds to F-actin in a Phosphorylation-sensitive Manner J. Biol. Chem., May 1, 2009; 284(18): 12318 - 12327. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Kelly and C. Semsarian Multiple Mutations in Genetic Cardiovascular Disease: A Marker of Disease Severity? Circ Cardiovasc Genet, April 1, 2009; 2(2): 182 - 190. [Full Text] [PDF]
|
|
|
|
|
|
T. P. Abraham, M. Jones, K. Kazmierczak, H.-Y. Liang, A. C. Pinheiro, C. S. Wagg, G. D. Lopaschuk, and D. Szczesna-Cordary Diastolic dysfunction in familial hypertrophic cardiomyopathy transgenic model mice Cardiovasc Res, April 1, 2009; 82(1): 84 - 92. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. J. van Dijk, D. Dooijes, C. dos Remedios, M. Michels, J. M.J. Lamers, S. Winegrad, S. Schlossarek, L. Carrier, F. J. ten Cate, G. J.M. Stienen, et al. Cardiac Myosin-Binding Protein C Mutations and Hypertrophic Cardiomyopathy: Haploinsufficiency, Deranged Phosphorylation, and Cardiomyocyte Dysfunction Circulation, March 24, 2009; 119(11): 1473 - 1483. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 I A Paraskevaidis, F Panou, C Papadopoulos, D Farmakis, J Parissis, I Ikonomidis, A Rigopoulos, E K Iliodromitis, and D Th Kremastinos Evaluation of left atrial longitudinal function in patients with hypertrophic cardiomyopathy: a tissue Doppler imaging and two-dimensional strain study Heart, March 15, 2009; 95(6): 483 - 489. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Sadayappan, J. Gulick, R. Klevitsky, J. N. Lorenz, M. Sargent, J. D. Molkentin, and J. Robbins Cardiac Myosin Binding Protein-C Phosphorylation in a {beta}-Myosin Heavy Chain Background Circulation, March 10, 2009; 119(9): 1253 - 1262. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 W. G. L. Kerrick, K. Kazmierczak, Y. Xu, Y. Wang, and D. Szczesna-Cordary Malignant familial hypertrophic cardiomyopathy D166V mutation in the ventricular myosin regulatory light chain causes profound effects in skinned and intact papillary muscle fibers from transgenic mice FASEB J, March 1, 2009; 23(3): 855 - 865. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Michels, O. I.I. Soliman, M. J. Kofflard, Y. M. Hoedemaekers, D. Dooijes, D. Majoor-Krakauer, and F. J. ten Cate Diastolic abnormalities as the first feature of hypertrophic cardiomyopathy in Dutch myosin-binding protein C founder mutations. J. Am. Coll. Cardiol. Img., January 1, 2009; 2(1): 58 - 64. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. G. Priori, C. Napolitano, S. E. Humphries, and J. Skipworth CHAPTER 9 Genetics of Cardiovascular Diseases ESC Textbook of Cardiovascular Medicine, January 1, 2009; 2(1): med-9780199566990-chapter - med-9780199566990-chapter. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. E. Whitten, C. M. Jeffries, S. P. Harris, and J. Trewhella Cardiac myosin-binding protein C decorates F-actin: Implications for cardiac function PNAS, November 25, 2008; 105(47): 18360 - 18365. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. W. Tong, J. E. Stelzer, M. L. Greaser, P. A. Powers, and R. L. Moss Acceleration of Crossbridge Kinetics by Protein Kinase A Phosphorylation of Cardiac Myosin Binding Protein C Modulates Cardiac Function Circ. Res., October 24, 2008; 103(9): 974 - 982. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. S. Maron, J. J. Finley, J. M. Bos, T. H. Hauser, W. J. Manning, T. S. Haas, J. R. Lesser, J. E. Udelson, M. J. Ackerman, and B. J. Maron Prevalence, Clinical Significance, and Natural History of Left Ventricular Apical Aneurysms in Hypertrophic Cardiomyopathy Circulation, October 7, 2008; 118(15): 1541 - 1549. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
K Zahka, K Kalidas, M A Simpson, H Cross, B B Keller, C Galambos, K Gurtz, M A Patton, and A H Crosby Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish Heart, October 1, 2008; 94(10): 1326 - 1330. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C. Geier, K. Gehmlich, E. Ehler, S. Hassfeld, A. Perrot, K. Hayess, N. Cardim, K. Wenzel, B. Erdmann, F. Krackhardt, et al. Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy Hum. Mol. Genet., September 15, 2008; 17(18): 2753 - 2765. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. M. Jacques, N. Briceno, A. E. Messer, C. E. Gallon, S. Jalilzadeh, E. Garcia, G. Kikonda-Kanda, J. Goddard, S. E. Harding, H. Watkins, et al. The molecular phenotype of human cardiac myosin associated with hypertrophic obstructive cardiomyopathy Cardiovasc Res, August 1, 2008; 79(3): 481 - 491. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Y. Wen, J. R. Pinto, A. V. Gomes, Y. Xu, Y. Wang, Y. Wang, J. D. Potter, and W. G. L. Kerrick Functional Consequences of the Human Cardiac Troponin I Hypertrophic Cardiomyopathy Mutation R145G in Transgenic Mice J. Biol. Chem., July 18, 2008; 283(29): 20484 - 20494. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. Dellefave and E. M. McNally Sarcomere Mutations in Cardiomyopathy, Noncompaction, and the Developing Heart Circulation, June 3, 2008; 117(22): 2847 - 2849. [Full Text] [PDF]
|
|
|
|
|
|
S. Klaassen, S. Probst, E. Oechslin, B. Gerull, G. Krings, P. Schuler, M. Greutmann, D. Hurlimann, M. Yegitbasi, L. Pons, et al. Mutations in Sarcomere Protein Genes in Left Ventricular Noncompaction Circulation, June 3, 2008; 117(22): 2893 - 2901. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 I. Olivotto, F. Girolami, M. J. Ackerman, S. Nistri, J. M. Bos, E. Zachara, S. R. Ommen, J. L. Theis, R. A. Vaubel, F. Re, et al. Myofilament Protein Gene Mutation Screening and Outcome of Patients With Hypertrophic Cardiomyopathy Mayo Clin. Proc., June 1, 2008; 83(6): 630 - 638. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 H. Morita, H. L. Rehm, A. Menesses, B. McDonough, A. E. Roberts, R. Kucherlapati, J. A. Towbin, J.G. Seidman, and C. E. Seidman Shared Genetic Causes of Cardiac Hypertrophy in Children and Adults N. Engl. J. Med., May 1, 2008; 358(18): 1899 - 1908. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
T. Tsoutsman, M. Kelly, D. C.H. Ng, J.-E. Tan, E. Tu, L. Lam, M. A. Bogoyevitch, C. E. Seidman, J.G. Seidman, and C. Semsarian Severe Heart Failure and Early Mortality in a Double-Mutation Mouse Model of Familial Hypertrophic Cardiomyopathy Circulation, April 8, 2008; 117(14): 1820 - 1831. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Heart Rhythm UK Familial Sudden Death Syndromes St Clinical indications for genetic testing in familial sudden cardiac death syndromes: an HRUK position statement Heart, April 1, 2008; 94(4): 502 - 507. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Morimoto Sarcomeric proteins and inherited cardiomyopathies Cardiovasc Res, March 1, 2008; 77(4): 659 - 666. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R. F. Padera Jr. and F. J. Schoen Pathology of Cardiac Surgery Card. Surg. Adult, January 1, 2008; 3(2008): 111 - 178. [Full Text]
|
|
|
|
|
|
P. Robinson, P. J. Griffiths, H. Watkins, and C. S. Redwood Dilated and Hypertrophic Cardiomyopathy Mutations in Troponin and {alpha}-Tropomyosin Have Opposing Effects on the Calcium Affinity of Cardiac Thin Filaments Circ. Res., December 7, 2007; 101(12): 1266 - 1273. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. Szczesna-Cordary, M. Jones, J. R. Moore, J. Watt, W. G. L. Kerrick, Y. Xu, Y. Wang, C. Wagg, and G. D. Lopaschuk Myosin regulatory light chain E22K mutation results in decreased cardiac intracellular calcium and force transients FASEB J, December 1, 2007; 21(14): 3974 - 3985. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. Sen-Chowdhry, P. Syrris, and W. J. McKenna Role of Genetic Analysis in the Management of Patients With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy J. Am. Coll. Cardiol., November 6, 2007; 50(19): 1813 - 1821. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. Pohlmann, I. Kroger, N. Vignier, S. Schlossarek, E. Kramer, C. Coirault, K. R. Sultan, A. El-Armouche, S. Winegrad, T. Eschenhagen, et al. Cardiac Myosin-Binding Protein C Is Required for Complete Relaxation in Intact Myocytes Circ. Res., October 26, 2007; 101(9): 928 - 938. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E. A. Stephenson and C. I. Berul Electrophysiological Interventions for Inherited Arrhythmia Syndromes Circulation, August 28, 2007; 116(9): 1062 - 1080. [Full Text] [PDF]
|
|
|
|
|
|
N. H. Robin, P. B. Tabereaux, R. Benza, and B. R. Korf Genetic Testing in Cardiovascular Disease J. Am. Coll. Cardiol., August 21, 2007; 50(8): 727 - 737. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Mirza, P. Robinson, E. Kremneva, O. Copeland, O. Nikolaeva, H. Watkins, D. Levitsky, C. Redwood, M. EL-Mezgueldi, and S. Marston The Effect of Mutations in {alpha}-Tropomyosin (E40K and E54K) That Cause Familial Dilated Cardiomyopathy on the Regulatory Mechanism of Cardiac Muscle Thin Filaments J. Biol. Chem., May 4, 2007; 282(18): 13487 - 13497. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 O. M. Hernandez, M. Jones, G. Guzman, and D. Szczesna-Cordary Myosin essential light chain in health and disease Am J Physiol Heart Circ Physiol, April 1, 2007; 292(4): H1643 - H1654. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Osio, L. Tan, S. N. Chen, R. Lombardi, S. F. Nagueh, S. Shete, R. Roberts, J. T. Willerson, and A. J. Marian Myozenin 2 Is a Novel Gene for Human Hypertrophic Cardiomyopathy Circ. Res., March 30, 2007; 100(6): 766 - 768. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. D. Colan, S. E. Lipshultz, A. M. Lowe, L. A. Sleeper, J. Messere, G. F. Cox, P. R. Lurie, E. J. Orav, and J. A. Towbin Epidemiology and Cause-Specific Outcome of Hypertrophic Cardiomyopathy in Children: Findings From the Pediatric Cardiomyopathy Registry Circulation, February 13, 2007; 115(6): 773 - 781. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Medin, M. Hermida-Prieto, L. Monserrat, R. Laredo, J. C. Rodriguez-Rey, X. Fernandez, and A. Castro-Beiras Mutational screening of phospholamban gene in hypertrophic and idiopathic dilated cardiomyopathy and functional study of the PLN -42 C>G mutation Eur J Heart Fail, January 1, 2007; 9(1): 37 - 43. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
P. Richard, E. Villard, P. Charron, and R. Isnard The Genetic Bases of Cardiomyopathies J. Am. Coll. Cardiol., October 27, 2006; 48(9_Suppl_A): A79 - A89. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
H. L. Granzier and K. B. Campbell New Insights in the Role of Cardiac Myosin Binding Protein C As a Regulator of Cardiac Contractility Circ. Res., October 13, 2006; 99(8): 795 - 797. [Full Text] [PDF]
|
|
|
|
 |
|
 G. F. Cox, L. A. Sleeper, A. M. Lowe, J. A. Towbin, S. D. Colan, E. J. Orav, P. R. Lurie, J. E. Messere, J. D. Wilkinson, and S. E. Lipshultz Factors Associated With Establishing a Causal Diagnosis for Children With Cardiomyopathy Pediatrics, October 1, 2006; 118(4): 1519 - 1531. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R H Lekanne Deprez, J J Muurling-Vlietman, J Hruda, M J H Baars, L C D Wijnaendts, I Stolte-Dijkstra, M Alders, and J M van Hagen Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene J. Med. Genet., October 1, 2006; 43(10): 829 - 832. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. E. Stelzer, J. R. Patel, and R. L. Moss Acceleration of Stretch Activation in Murine Myocardium due to Phosphorylation of Myosin Regulatory Light Chain J. Gen. Physiol., August 28, 2006; 128(3): 261 - 272. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. G. Sirenko, J. D. Potter, and B. C. Knollmann Differential effect of troponin T mutations on the inotropic responsiveness of mouse hearts - role of myofilament Ca2+ sensitivity increase J. Physiol., August 15, 2006; 575(1): 201 - 213. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. Y. Ho and C. E. Seidman A Contemporary Approach to Hypertrophic Cardiomyopathy Circulation, June 20, 2006; 113(24): e858 - e862. [Full Text] [PDF]
|
|
|
|
|
|
H. Morita, M. G. Larson, S. C. Barr, R. S. Vasan, C. J. O'Donnell, J. N. Hirschhorn, D. Levy, D. Corey, C. E. Seidman, J.G. Seidman, et al. Single-Gene Mutations and Increased Left Ventricular Wall Thickness in the Community: The Framingham Heart Study Circulation, June 13, 2006; 113(23): 2697 - 2705. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
O. Zolk, C. Schenke, and A. Sarikas The ubiquitin-proteasome system: Focus on the heart Cardiovasc Res, June 1, 2006; 70(3): 410 - 421. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
T. J. Herron, E. Rostkova, G. Kunst, R. Chaturvedi, M. Gautel, and J. C. Kentish Activation of Myocardial Contraction by the N-Terminal Domains of Myosin Binding Protein-C Circ. Res., May 26, 2006; 98(10): 1290 - 1298. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. E. Stelzer, S. B. Dunning, and R. L. Moss Ablation of Cardiac Myosin-Binding Protein-C Accelerates Stretch Activation in Murine Skinned Myocardium Circ. Res., May 12, 2006; 98(9): 1212 - 1218. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. Song, S. R. DePalma, M. Kharlap, A. G. Zenovich, A. Cirino, R. Mitchell, B. McDonough, B. J. Maron, C. E. Seidman, J.G. Seidman, et al. Novel Locus for an Inherited Cardiomyopathy Maps to Chromosome 7 Circulation, May 9, 2006; 113(18): 2186 - 2192. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. G. Priori and C. Napolitano Role of Genetic Analyses in Cardiology: Part I: Mendelian Diseases: Cardiac Channelopathies Circulation, February 28, 2006; 113(8): 1130 - 1135. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 P J Lamont, B Udd, F L Mastaglia, M de Visser, P Hedera, T Voit, L R Bridges, V Fabian, A Rozemuller, and N G Laing Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy J. Neurol. Neurosurg. Psychiatry, February 1, 2006; 77(2): 208 - 215. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
K. M. Meurs, X. Sanchez, R. M. David, N. E. Bowles, J. A. Towbin, P. J. Reiser, J. A. Kittleson, M. J. Munro, K. Dryburgh, K. A. MacDonald, et al. A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy Hum. Mol. Genet., December 1, 2005; 14(23): 3587 - 3593. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. J. Hardman, A. Waite, L. Zeef, M. Burow, T. Nakayama, and G. S. Ashcroft Macrophage Migration Inhibitory Factor: A Central Regulator of Wound Healing Am. J. Pathol., December 1, 2005; 167(6): 1561 - 1574. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Arad, M. Penas-Lado, L. Monserrat, B. J. Maron, M. Sherrid, C. Y. Ho, S. Barr, A. Karim, T. M. Olson, M. Kamisago, et al. Gene Mutations in Apical Hypertrophic Cardiomyopathy Circulation, November 1, 2005; 112(18): 2805 - 2811. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J Ingles, A Doolan, C Chiu, J Seidman, C Seidman, and C Semsarian Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling J. Med. Genet., October 1, 2005; 42(10): e59 - e59. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. F. Forissier, P. Charron, S. T. du Montcel, A. Hagege, R. Isnard, L. Carrier, P. Richard, M. Desnos, J. B. Bouhour, K. Schwartz, et al. Diagnostic accuracy of a 2D left ventricle hypertrophy score for familial hypertrophic cardiomyopathy Eur. Heart J., September 2, 2005; 26(18): 1882 - 1886. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D. Szczesna-Cordary, G. Guzman, J. Zhao, O. Hernandez, J. Wei, and Z. Diaz-Perez The E22K mutation of myosin RLC that causes familial hypertrophic cardiomyopathy increases calcium sensitivity of force and ATPase in transgenic mice J. Cell Sci., August 15, 2005; 118(16): 3675 - 3683. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. Mogensen and W. J. McKenna Reply J. Am. Coll. Cardiol., July 5, 2005; 46(1): 181 - 181. [Full Text] [PDF]
|
|
|
|
|
|
E. Carniel, M. R.G. Taylor, G. Sinagra, A. Di Lenarda, L. Ku, P. R. Fain, M. M. Boucek, J. Cavanaugh, S. Miocic, D. Slavov, et al. {alpha}-Myosin Heavy Chain: A Sarcomeric Gene Associated With Dilated and Hypertrophic Phenotypes of Cardiomyopathy Circulation, July 5, 2005; 112(1): 54 - 59. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. F. Cesta, C. J. Baty, B. W. Keene, I. W. Smoak, and D. E. Malarkey Pathology of End-stage Remodeling in a Family of Cats with Hypertrophic Cardiomyopathy Vet. Pathol., July 1, 2005; 42(4): 458 - 467. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. L. Van Driest, S. R. Ommen, A. J. Tajik, B. J. Gersh, and M. J. Ackerman Yield of Genetic Testing in Hypertrophic Cardiomyopathy Mayo Clin. Proc., June 1, 2005; 80(6): 739 - 744. [Abstract] [PDF]
|
|
|
|
|
|
C. Grey, A. Mery, and M. Puceat Fine-tuning in Ca2+ homeostasis underlies progression of cardiomyopathy in myocytes derived from genetically modified embryonic stem cells Hum. Mol. Genet., May 15, 2005; 14(10): 1367 - 1377. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E. Villard, L. Duboscq-Bidot, P. Charron, A. Benaiche, V. Conraads, N. Sylvius, and M. Komajda Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene Eur. Heart J., April 2, 2005; 26(8): 794 - 803. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
H.-P. Vosberg The ubiquitin-proteasome system may be involved in the pathogenesis of hypertrophic cardiomyopathy Cardiovasc Res, April 1, 2005; 66(1): 1 - 3. [Full Text] [PDF]
|
|
|
|
|
|
A. Sarikas, L. Carrier, C. Schenke, D. Doll, J. Flavigny, K. S. Lindenberg, T. Eschenhagen, and O. Zolk Impairment of the ubiquitin-proteasome system by truncated cardiac myosin binding protein C mutants Cardiovasc Res, April 1, 2005; 66(1): 33 - 44. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. L. Van Driest, S. R. Ommen, A. J. Tajik, B. J. Gersh, and M. J. Ackerman Sarcomeric Genotyping in Hypertrophic Cardiomyopathy Mayo Clin. Proc., April 1, 2005; 80(4): 463 - 469. [Abstract] [PDF]
|
|
|
|
|
|
N. R. Alpert, S. A. Mohiddin, D. Tripodi, J. Jacobson-Hatzell, K. Vaughn-Whitley, C. Brosseau, D. M. Warshaw, and L. Fananapazir Molecular and phenotypic effects of heterozygous, homozygous, and compound heterozygote myosin heavy-chain mutations Am J Physiol Heart Circ Physiol, March 1, 2005; 288(3): H1097 - H1102. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 N. G. Laing, C. Ceuterick-de Groote, D. E. Dye, K. Liyanage, R. M. Duff, B. Dubois, W. Robberecht, R. Sciot, J-J. Martin, and H. H. Goebel Myosin storage myopathy: Slow skeletal myosin (MYH7) mutation in two isolated cases Neurology, February 8, 2005; 64(3): 527 - 529. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
T. P. V. Manh, M. Mokrane, E. Georgenthum, J. Flavigny, L. Carrier, M. Semeriva, M. Piovant, and L. Roder Expression of cardiac myosin-binding protein-C (cMyBP-C) in Drosophila as a model for the study of human cardiomyopathies Hum. Mol. Genet., January 1, 2005; 14(1): 7 - 17. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. D. Franke, F. Dong, W. L. Rickoll, M. J. Kelley, and D. P. Kiehart Rod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly Blood, January 1, 2005; 105(1): 161 - 169. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. Mogensen, R. T. Murphy, T. Kubo, A. Bahl, J. C. Moon, I. C. Klausen, P. M. Elliott, and W. J. McKenna Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy J. Am. Coll. Cardiol., December 21, 2004; 44(12): 2315 - 2325. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. A. MacRae and P. T. Ellinor Genetic screening and risk assessment in hypertrophic cardiomyopathy J. Am. Coll. Cardiol., December 21, 2004; 44(12): 2326 - 2328. [Full Text] [PDF]
|
|
|
|
|
|
B. J. Maron, J.G. Seidman, and C. E. Seidman Proposal for contemporary screening strategies in families with hypertrophic cardiomyopathy J. Am. Coll. Cardiol., December 7, 2004; 44(11): 2125 - 2132. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. L. Van Driest, V. C. Vasile, S. R. Ommen, M. L. Will, A. J. Tajik, B. J. Gersh, and M. J. Ackerman Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy J. Am. Coll. Cardiol., November 2, 2004; 44(9): 1903 - 1910. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. P. Harris, E. Rostkova, M. Gautel, and R. L. Moss Binding of Myosin Binding Protein-C to Myosin Subfragment S2 Affects Contractility Independent of a Tether Mechanism Circ. Res., October 29, 2004; 95(9): 930 - 936. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. H. Maass, K. Ikeda, S. Oberdorf-Maass, S. K.G. Maier, and L. A. Leinwand Hypertrophy, Fibrosis, and Sudden Cardiac Death in Response to Pathological Stimuli in Mice With Mutations in Cardiac Troponin T Circulation, October 12, 2004; 110(15): 2102 - 2109. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. L. Van Driest, M. A. Jaeger, S. R. Ommen, M. L. Will, B. J. Gersh, A. J. Tajik, and M. J. Ackerman Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy J. Am. Coll. Cardiol., August 4, 2004; 44(3): 602 - 610. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
P Charron, E Villard, P Sebillon, P Laforet, T Maisonobe, L Duboscq-Bidot, N Romero, V Drouin-Garraud, T Frebourg, P Richard, et al. Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey Heart, August 1, 2004; 90(8): 842 - 846. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. Carrier, R. Knoll, N. Vignier, D. I Keller, P. Bausero, B. Prudhon, R. Isnard, M.-L. Ambroisine, M. Fiszman, J. Ross Jr., et al. Asymmetric septal hypertrophy in heterozygous cMyBP-C null mice Cardiovasc Res, August 1, 2004; 63(2): 293 - 304. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
B. J. Maron, B. R. Chaitman, M. J. Ackerman, A. Bayes de Luna, D. Corrado, J. E. Crosson, B. J. Deal, D. J. Driscoll, N.A. M. Estes III, C. G. S. Araujo, et al. Recommendations for Physical Activity and Recreational Sports Participation for Young Patients With Genetic Cardiovascular Diseases Circulation, June 8, 2004; 109(22): 2807 - 2816. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E. Flashman, C. Redwood, J. Moolman-Smook, and H. Watkins Cardiac Myosin Binding Protein C: Its Role in Physiology and Disease Circ. Res., May 28, 2004; 94(10): 1279 - 1289. [Abstract] [Full Text] [PDF]
|
|