Severe cardiac phenotype with right ventricular predominance in a large cohort of patients with a single missense mutation in the DES gene

Heart Rhythm

Volumn 6, Issue 11, 2009, Pages 1574-1583

  van Tintelen, J Peter ^a   Van Gelder, Isabelle C ^a,b   Asimaki, Angeliki ^c   Suurmeijer, Albert J H ^a   Wiesfeld, Ans C P ^a   Jongbloed, Jan D H ^a   van den Wijngaard, Arthur ^d   Kuks, Jan B M ^a   van Spaendonck Zwarts, Karin Y ^a   Notermans, Nicolette ^e   Boven, Ludolf ^a   van den Heuvel, Freek ^a   Veenstra Knol, Hermine E ^a   Saffitz, Jeffrey E ^c   Hofstra, Robert M W ^a   van den Berg, Maarten P ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b ROYAL NETHERLANDS ACADEMY OF ARTS AND SCIENCES   (Netherlands)

^c BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

^d MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^e UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

Bundle branch block; Cardiomyopathy; Genetics; Heart block

Indexed keywords

DESMIN;

ADULT; ARRHYTHMOGENESIS; ARTICLE; ATRIOVENTRICULAR BLOCK; CARDIOMYOPATHY; CELL DISRUPTION; CELL JUNCTION; CELL ULTRASTRUCTURE; CLINICAL ARTICLE; CONTROLLED STUDY; DESMOSOME; FEMALE; GENEALOGY; GENETIC ANALYSIS; GENETIC VARIABILITY; HEART RIGHT BUNDLE BRANCH BLOCK; HEART RIGHT VENTRICLE; HEART RIGHT VENTRICLE FAILURE; HETEROZYGOTE; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN LOCALIZATION;

ADOLESCENT; ADULT; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA; DESMIN; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; SEVERITY OF ILLNESS INDEX;

EID: 70350474285     PISSN: 15475271     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.hrthm.2009.07.041     Document Type: Article

References (45)

1. Bär H., Strelkov S.V., Sjöberg G., et al. The biology of desmin filaments: how do mutations affect their structure, assembly, and organisation?. J Struct Biol 148 (2004) 137-152
2. Goldfarb L.G., Park K.Y., Cervenáková L., et al. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet 19 (1998) 402-403
3. Dalakas M.C., Park K.Y., Semino-Mora C., et al. Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. N Engl J Med 342 (2000) 770-780
4. Goudeau B., Dagvadorj A., Rodrigues-Lima F., et al. Structural and functional analysis of a new desmin variant causing desmin-related myopathy. Hum Mutat 18 (2001) 388-396
5. Li M., and Dalakas M.C. Abnormal desmin protein in myofibrillar myopathies caused by desmin gene mutations. Ann Neurol 49 (2001) 532-536
6. Dagvadorj A., Goudeau B., Hilton-Jones D., et al. Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment. Muscle Nerve 27 (2003) 669-675
7. Dalakas M.C., Dagvadorj A., Goudeau B., et al. Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations. Neuromuscul Disord 13 (2003) 252-258
8. Kaminska A., Strelkov S.V., Goudeau B., et al. Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy. Hum Genet 114 (2004) 306-313
9. Olivé M., Goldfarb L., Moreno D., et al. Desmin-related myopathy: clinical, electrophysiological, radiological, neuropathological and genetic studies. J Neurol Sci 219 (2004) 125-137
10. Arbustini E., Pasotti M., Pilotto A., et al. Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects. Eur J Heart Fail 8 (2006) 477-483
11. Kostera-Pruszczyk A., Pruszczyk P., Kaminńska A., et al. Diversity of cardiomyopathy phenotypes caused by mutations in desmin. Int J Cardiol 131 (2008) 146-147
12. Bergman J.E., Veenstra-Knol H.E., van Essen A.J., et al. Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene. Eur J Med Genet 50 (2007) 355-366
13. Gardin J.M., Adams D.B., Douglas P.S., et al., American Society of Echocardiography. Recommendations for a standardized report for adult transthoracic echocardiography: a report from the American Society of Echocardiography's Nomenclature and Standards Committee and Task Force for a Standardized Echocardiography Report. J Am Soc Echocardiogr 15 (2002) 275-290
14. Mestroni L., Maisch B., McKenna W.J., et al. Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy. Eur Heart J 20 (1999) 93-102
15. McKenna W.J., Thiene G., Nava A., et al. Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology. Br Heart J 71 (1994) 215-218
16. Wu Y., Hayes V.M., Osinga J., et al. Improvement of fragment and primer selection for mutation detection by denaturing gradient gel electrophoresis. Nucleic Acids Res 26 (1998) 5432-5440
17. Hayes V.M., Wu Y., Osinga J., et al. Improvements in gel composition and electrophoretic conditions for broad-range mutation analysis by denaturing gradient gel electrophoresis. Nucleic Acids Res 27 (1999) e29
18. van Tintelen J.P., Hofstra R.M., Katerberg H., et al. High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics. Am Heart J 154 (2007) 1130-1139
19. Machado P.M., Brandão R.D., Cavaco B.M., et al. Screening for a BRCA2 rearrangement in high-risk breast/ovarian cancer families: evidence for a founder effect and analysis of the associated phenotypes. J Clin Oncol 25 (2007) 2027-2034
20. Saffitz J.E., Green K.G., Kraft W.J., et al. Effects of diminished expression of connexin43 on gap junction number and size in ventricular myocardium. Am J Physiol Heart Circ Physiol 278 (2000) H1662-H1670
21. Van Gelder I.C., Boriani G., Ernst S., et al., EHRA Education Committee. Case of the month by the EHRA Education committee: exercise-related arrhythmias. Europace 10 (2008) 235-237
22. van den Berg M.P., Nagelkerke D., Brouwer R.M., et al. Feasibility of pacemaker therapy after dynamic cardiomyoplasty. Pacing Clin Electrophysiol 22 (1999) 1543-1546
23. Olivé M., van Leeuwen F.W., Janué A., et al. Expression of mutant ubiquitin (UBB+1) and p62 in myotilinopathies and desminopathies. Neuropathol Appl Neurobiol 34 (2008) 76-87
24. Selcen D., Ohno K., and Engel A.G. Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients. Brain 127 (2004) 439-451
25. Taylor M.R., Slavov D., Ku L., et al., Familial Cardiomyopathy Registry; BEST (Beta-Blocker Evaluation of Survival Trial) DNA Bank. Prevalence of desmin mutations in dilated cardiomyopathy. Circulation 115 (2007) 1244-1251
26. Raats J.M., Pieper F.R., Vree Egberts W.T., et al. Assembly of amino-terminally deleted desmin in vimentin-free cells. J Cell Biol 111 (1990) 1971-1985
27. Lapouge K., Fontao L., Champliaud M.F., et al. New insights into the molecular basis of desmoplakin- and desmin-related cardiomyopathies. J Cell Sci 119 (2006) 4974-4985
28. Pica E.C., Kathirvel P., Pramono Z.A., et al. Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family. Neuromuscul Disord 18 (2008) 178-182
29. Ariza A., Coll J., Fernández-Figueras M.T., et al. Desmin myopathy: a multisystem disorder involving skeletal, cardiac, and smooth muscle. Hum Pathol 26 (1995) 1032-1037
30. Muñoz-Mármol A.M., Strasser G., Isamat M., et al. A dysfunctional desmin mutation in a patient with severe generalized myopathy. Proc Natl Acad Sci U S A 95 (1998) 11312-11317
31. Park K.Y., Dalakas M.C., Goebel H.H., et al. Desmin splice variants causing cardiac and skeletal myopathy. J Med Genet 37 (2000) 851-857
32. Kjörell U., and Thornell L.E. Identification of a complex between alpha-actinin and the intermediate filament subunit skeletin in bovine heart Purkinje fibres. Eur J Cell Biol 28 (1982) 139-144
33. Kjörell U., Thornell L.E., Lehto V.P., et al. A comparative analysis of intermediate filament proteins in bovine heart Purkinje fibres and gastric smooth muscle. Eur J Cell Biol 44 (1987) 68-78
34. Thornell L., Carlsson L., Li Z., et al. Null mutation in the desmin gene gives rise to a cardiomyopathy. J Mol Cell Cardiol 29 (1997) 2107-2124
35. Milner D.J., Taffet G.E., Wang X., et al. The absence of desmin leads to cardiomyocyte hypertrophy and cardiac dilation with compromised systolic function. J Mol Cell Cardiol 31 (1999) 2063-2076
36. Milner D.J., Mavroidis M., Weisleder N., et al. Desmin cytoskeleton linked to muscle mitochondrial distribution and respiratory function. J Cell Biol 150 (2000) 1283-1298
37. Gard J.J., Yamada K., Green K.G., et al. Remodeling of gap junctions and slow conduction in a mouse model of desmin-related cardiomyopathy. Cardiovasc Res 67 (2005) 539-547
38. Kaplan S.R., Gard J.J., Carvajal-Huerta L., et al. Structural and molecular pathology of the heart in Carvajal syndrome. Cardiovasc Pathol 13 (2004) 26-32
39. Wang X., Osinska H., Dorn II G.W., et al. Mouse model of desmin-related cardiomyopathy. Circulation 103 (2001) 2402-2407
40. Asimaki A., Tandri H., Huang H., et al. A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy. N Engl J Med 360 (2009) 1075-1084
41. Kaplan S.R., Gard J.J., Protonotarios N., et al. Remodeling of myocyte gap junctions in arrhythmogenic right ventricular cardiomyopathy due to a deletion in plakoglobin (Naxos disease). Heart Rhythm 1 (2004) 3-11
42. Saffitz J.E. In: Thiene G., and Pessina A.C. (Eds). Dependence of electrical coupling on mechanical coupling in cardiac myocytes. Advances in Cardiovascular Medicine (2003), Università degli Studi di Padova, Padua, Italy 15-28
43. Kitamura S., Ando S., Shibata M., et al. Protein kinase C phosphorylation of desmin at four serine residues within the non-alpha-helical head domain. J Biol Chem 264 (1989) 5674-5678
44. Huang X., Li J., Foster D., Lemanski S.L., et al. Protein kinase C-mediated desmin phosphorylation is related to myofibril disarray in cardiomyopathic hamster heart. Exp Biol Med (Maywood) 227 (2002) 1039-1046
45. Sharma S., Mücke N., Herrmann H., et al. Influence of deletions and mutations in the head domain of desmin upon assembly competence and network formation. Eur J Cell Biol 87 (2008) 452