European Heart Journal Advance Access originally published online on October 25, 2007
European Heart Journal 2007 28(24):3094-3095; doi:10.1093/eurheartj/ehm496
Redefining cardiomyopathies: the role of cardiovascular magnetic resonance imaging
Centre for Clinical Magnetic Resonance Research
Department of Cardiovascular Medicine
University of Oxford
John Radcliffe Hospital
Headley Way
Headington
Oxford OX3 9DU
UK
Tel: +44 1865 221873
Fax: +44 1865 221111
E-mail address: theo.karamitsos{at}cardiov.ox.ac.uk
Centre for Clinical Magnetic Resonance Research
University of Oxford
Oxford
UK
Centre for Clinical Magnetic Resonance Research
University of Oxford
Oxford
UK
Centre for Clinical Magnetic Resonance Research
University of Oxford
Oxford
UK
We read with great interest the article by Monserrat et al.1 published in a recent issue of European Heart Journal. The authors report on the E101K mutation in the alpha-cardiac actin gene that has previously been reported as a cause of apical hypertrophic cardiomyopathy (HCM) by the same group.2 They now hypothesize that this mutation may be present with the same or a different phenotype. Having screened 247 families with HCM, left ventricular non-compaction (LVNC), and dilated cardiomyopathy, the authors identified five index patients: one with LVNC and four with apical HCM. A total of 46 mutation carriers with an abnormal LV phenotype were identified; they were associated mainly with LVNC but also with apical HCM and septal defects. Inevitably, the question arises as to whether this represents an overlapping phenotype between apical HCM and LVNC.
Monserrat et al.1 admit the choice of imaging modality as one of their limitations, but we would like to elaborate on this point. In their study, they used transthoracic echocardiography without contrast to perform family screening and to characterize ventricular morphology. Conventional transthoracic echocardiography has inherent limitations, particularly in the visualization of the apex where hypertrophy or trabeculations may be seen associated with the E101K mutation. Cardiovascular magnetic resonance (CMR) is a powerful non-invasive imaging modality capable of assessing global and regional functions and performing tissue characterization with and without contrast administration.3 CMR can image in any plane, and the introduction of steady-state free precession sequences has resulted in a substantial improvement in the endocardial border definition, which is ideal for consistent and accurate imaging of the apex.4 Moon et al.5 reported the usefulness of CMR in assessing the apex in a group of subjects with ECG abnormalities suggestive of apical HCM but normal echocardiograms. Increasing numbers of case reports indicate that echocardiography without contrast may misdiagnose LVNC as apical HCM.6,7 Contrast-enhanced CMR, namely, perfusion and delayed enhancement CMR, provides diagnostic and potentially prognostic information in various types of cardiomyopathies.8–10 With reference to LVNC particularly, we believe that CMR can make a difference in discriminating between apical HCM, mild-normal trabeculations, and grossly trabeculated LV myocardium with intertrabecular recesses.11
The interesting study by Monserrat et al.1 illustrates the importance of correctly phenotyping patients with pathologies in the ventricular apex. We believe that the time has come to apply multi-parametric CMR imaging in patients with cardiomyopathy and to redefine these conditions with seemingly overlapping features.
References
- Monserrat L, Hermida-Prieto M, Fernandez X, Rodriguez I, Dumont C, Cazon L, Cuesta MG, Gonzalez-Juanatey C, Peteiro J, Alvarez N, Penas-Lado M, Castro-Beiras A. Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. Eur Heart J (2007) 28:1953–1961.
[Abstract/Free Full Text] - Arad M, Penas-Lado M, Monserrat L, Maron BJ, Sherrid M, Ho CY, Barr S, Karim A, Olson TM, Kamisago M, Seidman JG, Seidman CE. Gene mutations in apical hypertrophic cardiomyopathy. Circulation (2005) 112:2805–2811.
[Abstract/Free Full Text] - Constantine G, Shan K, Flamm SD, Sivananthan MU. Role of MRI in clinical cardiology. Lancet (2004) 363:2162–2171.[CrossRef][Web of Science][Medline]
- Thiele H, Nagel E, Paetsch I, Schnackenburg B, Bornstedt A, Kouwenhoven M, Wahl A, Schuler G, Fleck E. Functional cardiac MR imaging with steady-state free precession (SSFP) significantly improves endocardial border delineation without contrast agents. J Magn Reson Imaging (2001) 14:362–367.[CrossRef][Web of Science][Medline]
- Moon JC, Fisher NG, McKenna WJ, Pennell DJ. Detection of apical hypertrophic cardiomyopathy by cardiovascular magnetic resonance in patients with non-diagnostic echocardiography. Heart (2004) 90:645–649.
[Abstract/Free Full Text] - Varghese A, Fisher NG, Pennell DJ. Late recognition of left ventricular non-compaction by cardiovascular magnetic resonance. Heart (2005) 91:282.
[Free Full Text] - McCrohon JA, Richmond DR, Pennell DJ, Mohiaddin RH. Images in cardiovascular medicine. Isolated noncompaction of the myocardium: a rarity or missed diagnosis? Circulation (2002) 106:e22–e23.
[Free Full Text] - Mahrholdt H, Wagner A, Judd RM, Sechtem U, Kim RJ. Delayed enhancement cardiovascular magnetic resonance assessment of non-ischaemic cardiomyopathies. Eur Heart J (2005) 26:1461–1474.
[Abstract/Free Full Text] - Petersen SE, Jerosch-Herold M, Hudsmith LE, Robson MD, Francis JM, Doll HA, Selvanayagam JB, Neubauer S, Watkins H. Evidence for microvascular dysfunction in hypertrophic cardiomyopathy: new insights from multiparametric magnetic resonance imaging. Circulation (2007) 115:2418–2425.
[Abstract/Free Full Text] - Karamitsos TD, Bull S, Spyrou N, Neubauer S, Selvanayagam JB. Tako-tsubo cardiomyopathy presenting with features of left ventricular non-compaction. Int J Cardiol (2007) doi:10.1016/j.ijcard.2007.05.068.
- Petersen SE, Selvanayagam JB, Wiesmann F, Robson MD, Francis JM, Anderson RH, Watkins H, Neubauer S. Left ventricular non-compaction: insights from cardiovascular magnetic resonance imaging. J Am Coll Cardiol (2005) 46:101–105.
[Abstract/Free Full Text]
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