Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy

Circulation: Cardiovascular Genetics

Volumn 6, Issue 3, 2013, Pages 230-237

  Valente, Anne Marie ^a,b   Lakdawala, Neal K ^a,c   Powell, Andrew J ^b   Evans, Sarah P ^b   Cirino, Allison L ^a   Orav, E John ^a   MacRae, Calum A ^a   Colan, Steven D ^b   Ho, Carolyn Y ^a  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c VA BOSTON HEALTHCARE SYSTEM   (United States)

Author keywords

Cardiac MRI; Cardiomyopathy; Echocardiography; Genetics; Humans; Hypertrophic

Indexed keywords

GADOLINIUM PENTETATE MEGLUMINE;

ADOLESCENT; ADULT; ARTICLE; BODY SURFACE; CARDIOVASCULAR MAGNETIC RESONANCE; CHILD; CLINICAL ARTICLE; COMPARATIVE STUDY; CONTRAST ENHANCEMENT; DIASTOLIC BLOOD PRESSURE; ECG ABNORMALITY; ECHOCARDIOGRAPHY; FEMALE; FOLLOW UP; HEART LEFT VENTRICLE EJECTION FRACTION; HEART LEFT VENTRICLE WALL; HEART RATE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; IMAGE QUALITY; MALE; MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SARCOMERE; SCHOOL CHILD; SYSTOLIC BLOOD PRESSURE;

CARDIAC MRI; CARDIOMYOPATHY, HYPERTROPHIC; ECHOCARDIOGRAPHY; GENETICS; HUMANS;

ADOLESCENT; ADULT; CARDIOMYOPATHY, HYPERTROPHIC; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; ECHOCARDIOGRAPHY; FEMALE; FOLLOW-UP STUDIES; HEART; HETEROZYGOTE; HUMANS; HYPERTROPHY, LEFT VENTRICULAR; MAGNETIC RESONANCE IMAGING, CINE; MALE; MUTATION; SARCOMERES; YOUNG ADULT;

EID: 84884474180     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.113.000037     Document Type: Article

References (33)

1. Ho CY, Seidman CE. A contemporary approach to hypertrophic cardiomyopathy. Circulation. 2006;113:e858-e862.
2. Seidman JG, Seidman C. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell. 2001;104:557-567.
3. Hagège AA, Dubourg O, Desnos M, Mirochnik R, Isnard G, Bonne G, et al. Familial hypertrophic cardiomyopathy: cardiac ultrasonic abnormalities in genetically affected subjects without echocardiographic evidence of left ventricular hypertrophy. Eur Heart J. 1998;19:490-499.
4. Maron BJ, Seidman JG, Seidman CE. Proposal for contemporary screening strategies in families with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2004;44:2125-2132.
5. Gersh BJ, Maron BJ, Bonow RO, Dearani JA, Fifer MA, Link MS, et al American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines; American Association for Thoracic Surgery; American Society of Echocardiography; American Society of Nuclear Cardiology; Heart Failure Society of America; Heart Rhythm Society; Society for Cardiovascular Angiography and Interventions; Society of Thoracic Surgeons. 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Circulation. 2011;124:2761-2796.
6. Maron BJ, McKenna WJ, Danielson GK, Kappenberger LJ, Kuhn HJ, Seidman CE, et al. American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation Task Force on clinical expert consensus documents and the European Society of Cardiology Committee for practice guidelines. J Am Coll Cardiol. 2003;42:1687-1713.
7. Crilley JG, Boehm EA, Blair E, Rajagopalan B, Blamire AM, Styles P, et al. Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy. J Am Coll Cardiol. 2003;41:1776-1782.
8. Ho CY. New paradigms in hypertrophic cardiomyopathy: insights from genetics. Prog Pediatr Cardiol. 2011;31:93-98.
9. Lakdawala NK, Thune JJ, Maron BJ, Cirino AL, Havndrup O, Bundgaard H, et al. Electrocardiographic features of sarcomere mutation carriers with and without clinically overt hypertrophic cardiomyopathy. Am J Cardiol. 2011;108:1606-1613.
10. Ho CY, Abbasi SA, Neilan TG, Shah RV, Chen Y, Heydari B, et al. 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.
11. Germans T, Wilde AA, Dijkmans PA, Chai W, Kamp O, Pinto YM, et al. Structural abnormalities of the inferoseptal left ventricular wall detected by cardiac magnetic resonance imaging in carriers of hypertrophic cardiomyopathy mutations. J Am Coll Cardiol. 2006;48:2518-2523.
12. Rickers C, Wilke NM, Jerosch-Herold M, Casey SA, Panse P, Panse N, et al. Utility of cardiac magnetic resonance imaging in the diagnosis of hypertrophic cardiomyopathy. Circulation. 2005;112:855-861.
13. Maron MS, Maron BJ, Harrigan C, Buros J, Gibson CM, Olivotto I, et al. Hypertrophic cardiomyopathy phenotype revisited after 50 years with cardiovascular magnetic resonance. J Am Coll Cardiol. 2009;54:220-228.
14. Maron MS. The current and emerging role of cardiovascular magnetic resonance imaging in hypertrophic cardiomyopathy. J Cardiovasc Transl Res. 2009;2:415-425.
15. Olivotto I, Maron MS, Autore C, Lesser JR, Rega L, Casolo G, et al. Assessment and significance of left ventricular mass by cardiovascular magnetic resonance in hypertrophic cardiomyopathy. J Am Coll Cardiol. 2008;52:559-566.
16. Grothues F, Smith GC, Moon JC, Bellenger NG, Collins P, Klein HU, et al. Comparison of interstudy reproducibility of cardiovascular magnetic resonance with two-dimensional echocardiography in normal subjects and in patients with heart failure or left ventricular hypertrophy. Am J Cardiol. 2002;90:29-34.
17. Maron MS, Appelbaum E, Harrigan CJ, Buros J, Gibson CM, Hanna C, et al. Clinical profile and significance of delayed enhancement in hypertrophic cardiomyopathy. Circ Heart Fail. 2008;1:184-191.
18. Hershberger RE, Siegfried JD. Update 2011: clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol. 2011;57:1641-1649.
19. Lakdawala NK, Funke BH, Baxter S, Cirino AL, Roberts AE, Judge DP, et al. Genetic testing for dilated cardiomyopathy in clinical practice. J Card Fail. 2012;18:296-303.
20. 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.
21. Michels M, Soliman OI, Phefferkorn J, Hoedemaekers YM, Kofflard MJ, Dooijes D, et al. Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriers. Eur Heart J. 2009;30:2593-2598.
22. Lang RM, Bierig M, Devereux RB, Flachskampf FA, Foster E, Pellikka PA, et al. Recommendations for chamber quantification: a report from the American Society of Echocardiography's Guidelines and Standards Committee and the chamber quantification writing group, developed in conjunction with the European Association of Echocardiography, a branch of the European Society of Cardiology. J Am Soc Echocardiogr. 2005;18:1440-1463.
23. Garcia MJ, Thomas JD, Klein AL. New Doppler echocardiographic applications for the study of diastolic function. J Am Coll Cardiol. 1998;32:865-875.
24. Cerqueira MD, Weissman NJ, Dilsizian V, Jacobs AK, Kaul S, Laskey WK, et al. Standardized myocardial segmentation and nomenclature for tomographic imaging of the heart: a statement for healthcare professionals from the cardiac imaging committee of the council on clinical cardiology of the American Heart Association. Circulation. 2002;105:539-542.
25. Garg R, Powell AJ, Sena L, Marshall AC, Geva T. Effects of metallic implants on magnetic resonance imaging evaluation of Fontan palliation. Am J Cardiol. 2005;95:688-691.
26. Bland JM, Altman DG. Statistical methods for assessing agreement between two methods of clinical measurement. Lancet. 1986;1:307-310.
27. Moon JC, Mogensen J, Elliott PM, Smith GC, Elkington AG, Prasad SK, et al. Myocardial late gadolinium enhancement cardiovascular magnetic resonance in hypertrophic cardiomyopathy caused by mutations in troponin I. Heart. 2005;91:1036-1040.
28. Fuster V, van der Zee S, Miller MA. Evolving anatomic, functional, and molecular imaging in the early detection and prognosis of hypertrophic cardiomyopathy. J Cardiovasc Transl Res. 2009;2:398-406.
29. Maron MS, Olivotto I, Harrigan C, Appelbaum E, Gibson CM, Lesser JR, et al. Mitral valve abnormalities identified by cardiovascular magnetic resonance represent a primary phenotypic expression of hypertrophic cardiomyopathy. Circulation. 2011;124:40-47.
30. Strijack B, Ariyarajah V, Soni R, Jassal DS, Greenberg CR, McGregor R, et al. Late gadolinium enhancement cardiovascular magnetic resonance in genotyped hypertrophic cardiomyopathy with normal phenotype. J Cardiovasc Magn Reson. 2008;10:58.
31. Rowin EJ, Maron MS, Lesser JR, Maron BJ. CMR with late gadolinium enhancement in genotype positive-phenotype negative hypertrophic cardiomyopathy. J Am Coll Cardiol Cardiovasc Imaging. 2012;5:119-122.
32. Ho CY, López B, Coelho-Filho OR, Lakdawala NK, Cirino AL, Jarolim P, et al. Myocardial fibrosis as an early manifestation of hypertrophic cardiomyopathy. N Engl J Med. 2010;363:552-563.
33. Niimura H, Bachinski LL, Sangwatanaroj S, Watkins H, Chudley AE, McKenna W, et al. Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N Engl J Med. 1998;338:1248-1257.