Mutations in the sarcomere gene MYH7 in Ebstein anomaly

Circulation: Cardiovascular Genetics

Volumn 4, Issue 1, 2011, Pages 43-50

  Postma, Alex V ^a   Van Engelen, Klaartje ^a   Van De Meerakker, Judith ^a   Rahman, Thahira ^b   Probst, Susanne ^c   Baars, Marieke J H ^a   Bauer, Ulrike ^d   Pickardt, Thomas ^d   Sperling, Silke R ^e   Berger, Felix ^f   Moorman, Antoon F M ^a   Mulder, Barbara J M ^a   Thierfelder, Ludwig ^c   Keavney, Bernard ^b   Goodship, Judith ^b   Klaassen, Sabine ^c,f  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^d National Registry for Congenital Heart Defects ^*  (Germany)

^e MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^f CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

Cardiomyopathy; Congenital; Genetics; Heart defects

Indexed keywords

MYOSIN HEAVY CHAIN BETA;

ARTICLE; BASE PAIRING; CARDIOMYOPATHY; COHORT ANALYSIS; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA SEQUENCE; EBSTEIN ANOMALY; GENE MUTATION; GENETIC SCREENING; HUMAN; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SARCOMERE; VENTRICULAR NONCOMPACTION;

ADOLESCENT; ADULT; AGED; AMINO ACID SEQUENCE; CARDIAC MYOSINS; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; EBSTEIN ANOMALY; FAMILY; FEMALE; HUMANS; INFANT; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; MYOSIN HEAVY CHAINS; PEDIGREE; SARCOMERES; YOUNG ADULT;

EID: 79952776579     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.110.957985     Document Type: Article

References (28)

1. Attenhofer Jost CH, Connolly HM, Dearani JA, Edwards WD, Danielson GK. Ebstein's anomaly. Circulation. 2007;115:277-285. (Pubitemid 46115952)
2. Frescura C, Angelini A, Daliento L, Thiene G. Morphological aspects of Ebstein's anomaly in adults. Thorac Cardiovasc Surg. 2000;48:203-208.
3. Attenhofer Jost CH, Connolly HM, Warnes CA, O'Leary P, Tajik AJ, Pellikka PA, Seward JB. Noncompacted myocardium in Ebstein's anomaly: initial description in three patients. J Am Soc Echocardiogr. 2004;17:677-680. (Pubitemid 38858049)
4. Attenhofer Jost CH, Connolly HM, O'Leary PW, Warnes CA, Tajik AJ, Seward JB. Left heart lesions in patients with Ebstein anomaly. Mayo Clin Proc. 2005;80:361-368. (Pubitemid 40316299)
5. Correa-Villasenor A, Ferencz C, Neill CA, Wilson PD, Boughman JA, for the Baltimore-Washington Infant Study Group. Ebstein's malformation of the tricuspid valve: genetic and environmental factors. Teratology. 1994; 50:137-147. (Pubitemid 24289115)
6. Benson DW, Silberbach GM, Kavanaugh-McHugh A, Cottrill C, Zhang Y, Riggs S, Smalls O, Johnson MC, Watson MS, Seidman JG, Seidman CE, Plowden J, Kugler JD. Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. J Clin Invest. 1999;104:1567-1573. (Pubitemid 30002368)
7. Budde BS, Binner P, Waldmuller S, Hohne W, Blankenfeldt W, Hassfeld S, Bromsen J, Dermintzoglou A, Wieczorek M, May E, Kirst E, Selignow C, Rackebrandt K, Muller M, Goody RS, Vosberg HP, Nurnberg P, Scheffold T. Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene. PLoS ONE. 2007;2:e1362.
8. Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D, Moss AJ, Seidman CE, Young JB; Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation. 2006; 113:1807-1816.
9. Jenni R, Oechslin E, Schneider J, Attenhofer Jost C, Kaufman PA. Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy. Heart. 2001;86:666-671. (Pubitemid 33086886)
10. Monserrat L, Hermida-Prieto M, Fernandez X, Rodriguez I, Dumont C, Cazn L, Cuesta MG, Gonzalez-Juanatey C, Jesús Peteiro J, Alvarez N, Penas-Lado M, Castro-Beiras A. Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular noncompaction, and septal defects. Eur Heart J. 2007;28:1953-1961. (Pubitemid 47579548)
11. Hoedemaekers YM, Caliskan K, Majoor-Krakauer D, van de Laar I, Michels M, Witsenburg M, ten Cate FJ, Simoons ML, Dooijes D. Cardiac beta-myosin heavy chain defects in two families with non-compaction cardiomyopathy: linking noncompaction to hypertrophic, restrictive, and dilated cardiomyopathies. Eur Heart J. 2007;28:2732-2737. (Pubitemid 350135535)
12. Klaassen S, Probst S, Oechslin E, Gerull B, Krings G, Schuler P, Greutmann M, Hurlimann D, Yegitbasi M, Pons L, Gramlich M, Drenckhahn JD, Heuser A, Berger F, Jenni R, Thierfelder L. Mutations in sarcomere protein genes in left ventricular noncompaction. Circulation. 2008;117:2893-2901. (Pubitemid 351787074)
13. Dellefave LM, Pytel P, Mewborn S, Mora B, Guris DL, Fedson S, Waggoner D, Moskowitz I, McNally EM. Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation. Circ Cardiovasc Genet. 2009;2:442-449.
14. Hoedemaekers YM, Caliskan K, Michels M, Frohn-Mulder I, van der Smagt EJG, Phefferkorn JE, Wessels MW, ten Cate FJ, Sijbrands EJG, Dooijes D, Majoor-Krakauer DF. The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy. Circ Cardiovasc Genet. 2010;3: 232-239.
15. Matsson M, Eason J, Bookwalter CS, Klar J, Gustavsson P, Sunnegårdh J, Enell H, Jonzon A, Vikkula M, Gutierrez I, Granados-Riveron J, Pope M, Bu'Lock F, Cox J, Robinson TE, Song F, Brook2 DJ, Marston S, Trybus M, Dahl N. Alpha-cardiac actin mutations produce atrial septal defects. Hum Mol Genet. 2008;17:256-265.
16. Mogensen J, Klausen IC, Pedersen AK, Egeblad H, Bross P, Kruse TA, Gregersen N, Hansen PS, Baandrup U, Borglum AD. Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. J Clin Invest. 1999;103:R39-R43. (Pubitemid 29535504)
17. Walsh R, Rutland C, Thomas R, Loughna S. Cardiomyopathy: a systematic review of disease-causing mutations in myosin heavy chain 7 and their phenotypic manifestations. Cardiology. 2010;115:49-60.
18. Sinkovec M, Kozelj M, Podnar T. Familial biventricular myocardial noncompaction associated with Ebstein's malformation. Int J Cardiol. 2005;102:297-302. (Pubitemid 40854046)
19. Schunkert H, Brockel U, Kromer EP, Elsner D, Jacob HJ, Riegger GA. A large pedigree with valvuloseptal defects. Am J Cardiol. 1997;80: 968-970. (Pubitemid 27459182)
20. Miller MS, Rao PN, Dudovitz RN, Falk RE. Ebstein anomaly and duplication of the distal arm of chromosome 15: report of two patients. Am J Medical Genet A. 2005;139A:141-145. (Pubitemid 46211251)
21. Andelfinger G, Wright KN, Lee HS, Siemens LM, Benson DW. Canine tricuspid valve malformation, a model of human Ebstein anomaly, maps to dog chromosome 9. J Med Genet. 2003;40:320-324. (Pubitemid 36613467)
22. Daliento L, Angelini A, Ho SY, Frescura C, Turrini P, Baratella MC, Thiene G, Anderson RH. Angiographic and morphologic features of the left ventricle in Ebstein's malformation. Am J Cardiol. 1997;80: 1051-1059. (Pubitemid 27459207)
23. Bagur RH, Lederlin M, Montaudon M, Latrabe V, Corneloup O, Iriart X, Laurent F. Images in cardiovascular medicine. Ebstein anomaly associated with left ventricular noncompaction. Circulation. 2008;118: e662-e664.
24. Klaassen S. Focused review: ventricular noncompaction: an update. In: Libby P, Bonow RO, Mann DL, Zipes DP, eds. Braunwald's Heart Disease, A Textbook of Cardiovascular Medicine. 8th edition, part VIII, chapter 65. Philadelphia: Saunders Elsevier; 2008.
25. Ching YH, Ghosh TK, Cross SJ, Packham EA, Honeyman L, Loughna S, Robinson TE, Dearlove AM, Ribas G, Bonser AJ, Thomas NR, Scotter AJ, Caves LS, Tyrrell GP, Newbury-Ecob RA, Munnich A, Bonnet D, Brook JD. Mutation in myosin heavy chain 6 causes atrial septal defect. Nat Genet. 2005;37:423-428.
26. Chen H, Zhang W, Li D, Cordes TM, Payne RM, Shou W. Analysis of ventricular hypertrabeculation and noncompaction using genetically engineered mouse models. Pediatr Cardiol. 2009;30:626-663.
27. de Lange FJ, Moorman AFM, Anderson RH, Männer J, Soufan AT, de Gier-de Vries C, Schneider MD, Webb S, van den Hoff MJB, Christoffels VM. Lineage and morphogenetic analysis of the cardiac valves. Circ Res. 2004;95:645-654. (Pubitemid 39274380)
28. Meilhac SM, Esner M, Kerszberg M, Moss JE, Buckingham ME. Oriented clonal cell growth in the developing mouse myocardium underlies cardiac morphogenesis. J Cell Biol. 2004;164:97-109. (Pubitemid 38082461)