Prediction of sarcomere mutations in subclinical hypertrophic cardiomyopathy

Circulation: Cardiovascular Imaging

Volumn 7, Issue 6, 2014, Pages 863-871

  Captur, Gabriella ^a,b   Lopes, Luis R ^a,b   Mohun, Timothy J ^c   Patel, Vimal ^a,b   Li, Chunming ^d   Bassett, Paul ^a   Finocchiaro, Gherardo ^b   Ferreira, Vanessa M ^e   Esteban, Maite Tome ^b   Muthurangu, Vivek ^a,f   Sherrid, Mark V ^g   Day, Sharlene M ^h   Canter, Charles E ⁱ   McKenna, William J ^a,b   Seidman, Christine E ^j   Bluemke, David A ^k   Elliott, Perry M ^a,b   Ho, Carolyn Y ^l   Moon, James C ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b ST BARTHOLOMEW S HOSPITAL   (United Kingdom)

^c MRC National Institutes for Medical Research   (United Kingdom)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

^e UNIVERSITY OF OXFORD   (United Kingdom)

^f GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^g ST LUKE S ROOSEVELT HOSPITAL CENTER   (United States)

^h UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

ⁱ WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j HARVARD MEDICAL SCHOOL   (United States)

^k NATIONAL INSTITUTES OF HEALTH   (United States)

^l BRIGHAM AND WOMEN S HOSPITAL   (United States)

more..

Author keywords

Cardiomyopathy hypertrophic; Genetics; Magnetic resonance imaging

Indexed keywords

CARDIAC MYOSIN BINDING PROTEIN C; MYOSIN BINDING PROTEIN C; UNCLASSIFIED DRUG; MUSCLE PROTEIN;

ADULT; ARTICLE; CARDIOVASCULAR MAGNETIC RESONANCE; CASE CONTROL STUDY; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; HEART LEFT VENTRICLE ENDSYSTOLIC VOLUME; HEART LEFT VENTRICLE HYPERTROPHY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MAJOR CLINICAL STUDY; MALE; MITRAL VALVE; MULTICENTER STUDY; NUCLEAR MAGNETIC RESONANCE SCANNER; PHENOTYPE; PREDICTION; PREDICTIVE VALUE; PREVALENCE; PRIORITY JOURNAL; SARCOMERE; SUBCLINICAL HYPERTROPHIC CARDIOMYOPATHY; ADOLESCENT; ASYMPTOMATIC DISEASE; CHI SQUARE DISTRIBUTION; CLINICAL TRIAL; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; HEART VENTRICLE; MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PATHOLOGY; PROCEDURES; RISK; STATISTICAL MODEL; UNITED KINGDOM; UNITED STATES; YOUNG ADULT;

ADOLESCENT; ADULT; ASYMPTOMATIC DISEASES; CARDIOMYOPATHY, HYPERTROPHIC; CASE-CONTROL STUDIES; CHI-SQUARE DISTRIBUTION; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HEART VENTRICLES; HUMANS; LOGISTIC MODELS; LONDON; MAGNETIC RESONANCE IMAGING; MALE; MITRAL VALVE; MUSCLE PROTEINS; MUTATION; ODDS RATIO; PHENOTYPE; PREDICTIVE VALUE OF TESTS; SARCOMERES; UNITED STATES; YOUNG ADULT;

EID: 84922393966     PISSN: 19419651     EISSN: 19420080     Source Type: Journal    
DOI: 10.1161/CIRCIMAGING.114.002411     Document Type: Article

References (32)

1. Maron BJ, Shirani J, Poliac LC, Mathenge R, Roberts WC, Mueller FO. Sudden death in young competitive athletes. Clinical, demographic, and pathological profiles. JAMA. 1996;276:199-204
2. Maron BJ, Seidman JG, Seidman CE. Proposal for contemporary screening strategies in families with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2004;44:2125-2132
3. Deva DP, Williams LK, Care M, Siminovitch KA, Moshonov H, Wintersperger BJ, Rakowski H, Crean AM. Deep basal inferoseptal crypts occur more commonly in patients with hypertrophic cardiomyopathy due to disease-causing myofilament mutations. Radiology. 2013;269:68-76
4. Maron MS, Olivotto I, Harrigan C, Appelbaum E, Gibson CM, Lesser JR, Haas TS, Udelson JE, Manning WJ, Maron BJ. Mitral valve abnormalities identified by cardiovascular magnetic resonance represent a primary phenotypic expression of hypertrophic cardiomyopathy. Circulation. 2011;124:40-47
5. Captur G, Lopes LR, Patel V, Li C, Bassett P, Syrris P, Sado DM, Maestrini V, Mohun TJ, McKenna WJ, Muthurangu V, Elliott PM, Moon JC. Abnormal cardiac formation in hypertrophic cardiomyopathy: fractal analysis of trabeculae and preclinical gene expression. Circ Cardiovasc Genet. 2014;7:241-248
6. Kauer F, van Dalen BM, Michels M, Soliman OI, Vletter WB, van Slegtenhorst M, ten Cate FJ, Geleijnse ML. Diastolic abnormalities in normal phenotype hypertrophic cardiomyopathy gene carriers: a study using speckle tracking echocardiography. Echocardiography. 2013;30:558-563
7. Brouwer WP, Germans T, Head MC, van der Velden J, Heymans MW, Christiaans I, Houweling AC, Wilde AA, van Rossum AC. Multiple myocardial crypts on modified long-axis view are a specific finding in prehypertrophic HCM mutation carriers. Eur Heart J Cardiovasc Imaging. 2012;13:292-297
8. Valente AM, Lakdawala NK, Powell AJ, Evans SP, Cirino AL, Orav EJ, MacRae CA, Colan SD, Ho CY. Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy. Circ Cardiovasc Genet. 2013;6:230-237
9. Charron P, Forissier JF, Amara ME, Dubourg O, Desnos M, Bouhour JB, Isnard R, Hagege A, Bénaïche A, Richard P, Schwartz K, Komajda M. Accuracy of European diagnostic criteria for familial hypertrophic cardiomyopathy in a genotyped population. Int J Cardiol. 2003;90:33-38; discussion 38
10. McKenna WJ, Spirito P, Desnos M, Dubourg O, Komajda M. Experience from clinical genetics in hypertrophic cardiomyopathy: proposal for new diagnostic criteria in adult members of affected families. Heart. 1997;77:130-132
11. Abecasis GR, Auton A, Brooks LD, DePristo MA, Durbin RM, Handsaker RE, Kang HM, Marth GT, McVean GA. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012; 491:56-65
12. Lopes LR, Zekavati A, Syrris P, Hubank M, Giambartolomei C, Dalageorgou C, Jenkins S, McKenna W, Plagnol V, Elliott PM; Uk10k Consortium. Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. J Med Genet. 2013;50:228-239
13. Harris SP, Lyons RG, Bezold KL. In the thick of it: HCM-causing mutations in myosin binding proteins of the thick filament. Circ Res. 2011;108:751-764
14. Kramer CM, Barkhausen J, Flamm SD, Kim RJ, Nagel E; Society for Cardiovascular Magnetic Resonance Board of Trustees Task Force on Standardized Protocols. Standardized cardiovascular magnetic resonance imaging (CMR) protocols, society for cardiovascular magnetic resonance: board of trustees task force on standardized protocols. J Cardiovasc Magn Reson. 2008;10:35
15. Captur G, Muthurangu V, Cook C, Flett AS, Wilson R, Barison A, Sado DM, Anderson S, McKenna WJ, Mohun TJ, Elliott PM, Moon JC. Quantification of left ventricular trabeculae using fractal analysis. J Cardiovasc Magn Reson. 2013;15:36
16. Shen J, Gao S. A solution to separation and multicollinearity in multiple logistic regression. J Data Sci. 2008;6:515-531
17. Heinze G, Schemper M. A solution to the problem of separation in logistic regression. Stat Med. 2002;21:2409-2419
18. Torgo L. Predicting algae blooms. In: Kumar V, ed. Data mining with R. Minneaplis, MN: Chapman and Hall/CRC; 2010:39-94
19. Gersh BJ, Maron BJ, Bonow RO, Dearani JA, Fifer MA, Link MS, Naidu SS, Nishimura RA, Ommen SR, Rakowski H, Seidman CE, Towbin JA, Udelson JE, Yancy CW. 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. J Thorac Cardiovasc Surg. 2011; 142:e153-203
20. Charron P, Arad M, Arbustini E, Basso C, Bilinska Z, Elliott P, Helio T, Keren A, McKenna WJ, Monserrat L, Pankuweit S, Perrot A, Rapezzi C, Ristic A, Seggewiss H, van Langen I, Tavazzi L; European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2010;31:2715-2726
21. Cirino AL, Ho CY. Genetic testing in cardiac disease: from bench to bedside. Nat Clin Pract Cardiovasc Med. 2006;3:462-463
22. Andersen PS, Havndrup O, Hougs L, Sørensen KM, Jensen M, Larsen LA, Hedley P, Thomsen AR, Moolman-Smook J, Christiansen M, Bundgaard H. Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives. Hum Mutat. 2009;30:363-370
23. Maron BJ, Maron MS, Semsarian C. Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives. J Am Coll Cardiol. 2012;60:705-715
24. Srichai MB, Hecht EM, Kim DC, Jacobs JE. Ventricular diverticula on cardiac CT: more common than previously thought. AJR Am J Roentgenol. 2007;189:204-208
25. Johansson B, Maceira AM, Babu-Narayan SV, Moon JC, Pennell DJ, Kilner PJ. Clefts can be seen in the basal inferior wall of the left ventricle and the interventricular septum in healthy volunteers as well as patients by cardiovascular magnetic resonance. J Am Coll Cardiol. 2007;50:1294-1295
26. Petryka J, Baksi AJ, Prasad SK, Pennell DJ, Kilner PJ. Prevalence of inferobasal myocardial crypts among patients referred for cardiovascular magnetic resonance. Circ Cardiovasc Imaging. 2014;7:259-264
27. Erol C, Koplay M, Olcay A, Kivrak AS, Ozbek S, Seker M, Paksoy Y. Congenital left ventricular wall abnormalities in adults detected by gated cardiac multidetector computed tomography: clefts, aneurysms, diverticula and terminology problems. Eur J Radiol. 2012;81: 3276-3281
28. Maron MS, Rowin EJ, Lin D, Appelbaum E, Chan RH, Gibson CM, Lesser JR, Lindberg J, Haas TS, Udelson JE, Manning WJ, Maron BJ. Prevalence and clinical profile of myocardial crypts in hypertrophic cardiomyopathy. Circ Cardiovasc Imaging. 2012;5:441-447
29. Rowin EJ, Maron MS. Myocardial crypts in hypertrophic cardiomyopathy: the new gang in town. Eur Heart J Cardiovasc Imaging. 2012;13:281-283
30. Ho CY, Abbasi SA, Neilan TG, Shah RV, Chen Y, Heydari B, Cirino AL, Lakdawala NK, Orav EJ, González A, López B, Díez J, Jerosch-Herold M, Kwong RY. T1 measurements identify extracellular volume expansion in hypertrophic cardiomyopathy sarcomere mutation carriers with and without left ventricular hypertrophy. Circ Cardiovasc Imaging. 2013;6:415-422
31. Ho CY, Sweitzer NK, McDonough B, Maron BJ, Casey SA, Seidman JG, Seidman CE, Solomon SD. Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy. Circulation. 2002;105:2992-2997
32. De S, Borowski AG, Wang H, Nye L, Xin B, Thomas JD, Tang WH. Subclinical echocardiographic abnormalities in phenotype-negative carriers of myosin-binding protein C3 gene mutation for hypertrophic cardiomyopathy. Am Heart J. 2011;162:262-267.e3.