Diltiazem treatment for pre-Clinical hypertrophic cardiomyopathy sarcomereMutation carriers: A pilot randomized trial to modify disease expression

JACC: Heart Failure

Volumn 3, Issue 2, 2015, Pages 180-188

  Ho, Carolyn Y ^a   Lakdawala, Neal K ^a   Cirino, Allison L ^a   Lipshultz, Steven E ^b   Sparks, Elizabeth ^c   Abbasi, Siddique A ^a   Kwong, Raymond Y ^a   Antman, Elliott M ^a   Semsarian, Christopher ^d   González, Arantxa ^e   López, Begoña ^e   Diez, Javier ^e,f   Orav, E John ^a   Colan, Steven D ^g   Seidman, Christine E ^a,h  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c JOHNS HOPKINS HOSPITAL   (United States)

^d UNIVERSITY OF SYDNEY   (Australia)

^e UNIVERSITY OF NAVARRA   (Spain)

^f UNIVERSITY CLINIC OF NAVARRA   (Spain)

^g BOSTON CHILDREN S HOSPITAL   (United States)

^h HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

Cardiomyopathy; CMR; E'; Genetics; Hypertrophy; Translational research; Treatment; Trials

Indexed keywords

DILTIAZEM; PLACEBO; TROPONIN I; CALCIUM CHANNEL BLOCKING AGENT; CARRIER PROTEIN; MYOSIN-BINDING PROTEIN C;

ADOLESCENT; ADULT; ARTICLE; BLOOD PRESSURE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DIZZINESS; DOUBLE BLIND PROCEDURE; DRUG DOSE TITRATION; DRUG EFFECT; DRUG EFFICACY; DRUG RESPONSE; DRUG SAFETY; DYSPNEA; FATIGUE; FEASIBILITY STUDY; FEMALE; GASTROINTESTINAL SYMPTOM; GENE; GENE MUTATION; HEADACHE; HEART LEFT VENTRICLE ENDDIASTOLIC VOLUME; HEART LEFT VENTRICLE FILLING; HEART LEFT VENTRICLE HYPERTROPHY; HEART LEFT VENTRICLE MASS; HEART RATE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MALE; MYBPC3 GENE; NAUSEA; PATIENT COMPLIANCE; PILOT STUDY; RANDOMIZED CONTROLLED TRIAL; SARCOMERE; SCHOOL CHILD; THORAX PAIN; TREATMENT DURATION; UNSPECIFIED SIDE EFFECT; BLOOD; CARDIOMYOPATHY, HYPERTROPHIC; CINE MAGNETIC RESONANCE IMAGING; CLINICAL TRIAL; DIAGNOSTIC IMAGING; DIASTOLE; ECHOCARDIOGRAPHY; GENETIC PREDISPOSITION; GENETICS; HEART VENTRICLE; HETEROZYGOTE; MULTICENTER STUDY; MUTATION; PATHOLOGY; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; CALCIUM CHANNEL BLOCKERS; CARDIOMYOPATHY, HYPERTROPHIC; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; DIASTOLE; DILTIAZEM; DOUBLE-BLIND METHOD; ECHOCARDIOGRAPHY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEART VENTRICLES; HETEROZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING, CINE; MALE; MUTATION; PILOT PROJECTS; SARCOMERES; TROPONIN I; YOUNG ADULT;

EID: 84949968680     PISSN: 22131779     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jchf.2014.08.003     Document Type: Article

References (25)

1. Geisterfer-Lowrance A.A., Kass S., Tanigawa G., et al. Amolecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell 1990, 62:999-1006.
2. Thierfelder L., MacRae C., Watkins H., et al. Afamilial hypertrophic cardiomyopathy locus maps to chromosome 15q2. Proc Natl Acad Sci USA 1993, 90:6270-6274.
3. Watkins H., Rosenzweig A., Hwang D.S., et al. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. NEngl J Med 1992, 326:1108-1114. [see comments].
4. Watkins H., MacRae C., Thierfelder L., et al. Adisease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3. Nat Genet 1993, 3:333-337.
5. Watkins H., McKenna W.J., Thierfelder L., et al. Mutations in the genes for cardiac troponin Tand alpha-tropomyosin in hypertrophic cardiomyopathy. NEngl J Med 1995, 332:1058-1064.
6. Seidman J.G., Seidman C. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell 2001, 104:557-567.
7. Gersh B.J., Maron B.J., Bonow R.O., et al. 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. J Am Coll Cardiol 2011, 58:2703-2738.
8. Niimura H., Bachinski L.L., Sangwatanaroj S., et al. Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. NEngl J Med 1998, 338:1248-1257. [see comments].
9. Maron B.J., Seidman J.G., Seidman C.E. Proposal for contemporary screening strategies in families with hypertrophic cardiomyopathy. JAm Coll Cardiol 2004, 44:2125-2132.
10. Fatkin D., McConnell B.K., Mudd J.O., et al. An abnormal Ca(2+) response in mutant sarcomere protein-mediated familial hypertrophic cardiomyopathy. JClin Invest 2000, 106:1351-1359.
11. Semsarian C., Ahmad I., Giewat M., et al. The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model. JClin Invest 2002, 109:1013-1020.
12. Guinto P.J., Haim T.E., Dowell-Martino C.C., Sibinga N., Tardiff J.C. Temporal and mutation-specific alterations in Ca2+homeostasis differentially determine the progression of cTnT-related cardiomyopathies in murine models. Am J Physiol Heart Circ Physiol 2009, 297:H614-H626.
13. Westermann D., Knollmann B.C., Steendijk P., et al. Diltiazem treatment prevents diastolic heart failure in mice with familial hypertrophic cardiomyopathy. Eur J Heart Fail 2006, 8:115-121.
14. Lakdawala N.K., Funke B.H., Baxter S., et al. Genetic testing for dilated cardiomyopathy in clinical practice. JCard Fail 2012, 18:296-303.
15. Choo P.W., Rand C.S., Inui T.S., et al. Validation of patient reports, automated pharmacy records, and pill counts with electronic monitoring of adherence to antihypertensive therapy. Med Care 1999, 37:846-857.
16. Schiller N.B., Shah P.M., Crawford M., et al. Recommendations for quantitation of the left ventricle by two-dimensional echocardiography. American Society of Echocardiography Committee on Standards, Subcommittee on Quantitation of Two-Dimensional Echocardiograms. JAm Soc Echocardiogr 1989, 2:358-367.
17. Sluysmans T., Colan S.D. Theoretical and empirical derivation of cardiovascular allometric relationships in children. JAppl Physiol 2005, 99:445-457.
18. Park S.H., Shub C., Nobrega T.P., Bailey K.R., Seward J.B. Two-dimensional echocardiographic calculation of left ventricular mass as recommended by the American Society of Echocardiography: correlation with autopsy and M-mode echocardiography. JAm Soc Echocardiogr 1996, 9:119-128.
19. Maron B.J., Spirito P., Green K.J., Wesley Y.E., Bonow R.O., Arce J. Noninvasive assessment of left ventricular diastolic function by pulsed Doppler echocardiography in patients with hypertrophic cardiomyopathy. JAm Coll Cardiol 1987, 10:733-742.
20. Steel K., Broderick R., Gandla V., et al. Complementary prognostic values of stress myocardial perfusion and late gadolinium enhancement imaging by cardiac magnetic resonance in patients with known or suspected coronary artery disease. Circulation 2009, 120:1390-1400.
21. Grothues F., Smith G.C., Moon J.C., 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.
22. Flett A.S., Hasleton J., Cook C., et al. Evaluation of techniques for the quantification of myocardial scar of differing etiology using cardiac magnetic resonance. JAm Coll Cardiol 2011, 4:150-156.
23. Niimura H., Patton K.K., McKenna W.J., et al. Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. Circulation 2002, 105:446-451.
24. Rosenzweig A., Watkins H., Hwang D.S., et al. Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes. NEngl J Med 1991, 325:1753-1760. [see comments].
25. Schulz K.F., Altman D.G., Moher D. CONSORT 2010 statement: updated guidelines for reporting parallel group randomized trials. Ann Intern Med 2010, 152:726-732. Group C.