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CLINICAL RESEARCH: CARDIAC IMAGING

Structural Abnormalities of the Inferoseptal Left Ventricular Wall Detected by Cardiac Magnetic Resonance Imaging in Carriers of Hypertrophic Cardiomyopathy Mutations

Tjeerd Germans, MD^_*,,_*, Arthur A.M. Wilde, MD, PhD^,, Pieter A. Dijkmans, MD^_*, Wenxia Chai, PhD, Otto Kamp, MD, PhD^_*, Yigal M. Pinto, MD, PhD^, and Albert C. van Rossum, MD, PhD^_*,

^_* Department of Cardiology, VU University Medical Center, Amsterdam, the Netherlands
Department of Cardiology, Academic Medical Center, Amsterdam, the Netherlands
Department of Cardiology, University Hospital Maastricht, Maastricht, the Netherlands
Interuniversity Cardiology Institute of the Netherlands, Utrecht, the Netherlands

Manuscript received March 1, 2006; revised manuscript received June 27, 2006, accepted August 7, 2006.

^_* Reprint requests and correspondence: Dr. Tjeerd Germans, Department of Cardiology, VU University Medical Centre, De Boelelaan 1117, 1081 HV Amsterdam, the Netherlands. (Email: t.germans{at}vumc.nl).

OBJECTIVES: The purpose of this study was to evaluate whether structural left ventricular (LV) abnormalities can be observed in hypertrophic cardiomyopathy (HCM) mutation carriers who have not yet developed echocardiographic signs of hypertrophy by using cardiac magnetic resonance imaging (CMR).

BACKGROUND: Hypertrophic cardiomyopathy is caused by mutations of genes encoding for sarcomeric proteins. Myocyte disarray and interstitial fibrosis precede the development of regional hypertrophy in HCM mutation carriers (carriers). No macroscopic LV structural abnormalities have been observed in carriers without LV hypertrophy.

METHODS: A CMR, echocardiogram, and electrocardiogram (ECG) were performed in 16 carriers. Delayed contrast enhancement imaging was used with CMR to detect fibrosis. In 16 age- and gender-matched control subjects, CMR and ECG were performed and an echocardiogram was made when structural abnormalities were detected with CMR. All carriers had an LV wall thickness <13 mm in the year before the study, measured by echocardiography.

RESULTS: In 13 carriers (81%), crypts were discerned with CMR in the basal and mid inferoseptal LV wall, not detected by routine echocardiography and not observed in healthy volunteers. In 4 of the crypt-positive carriers, both the echocardiogram and ECG were normal. Two HCM carriers revealed regional hypertrophy of the inferoseptum not detected by echocardiography, and in both carriers, focal fibrosis was present.

CONCLUSIONS: In carriers who have not yet developed frank hypertrophy, crypts can be detected with CMR in the inferoseptal LV wall, even when echocardiography and ECG are normal. The crypts might represent one of the early pathological alterations of myocardium in carriers that ultimately progress into manifest HCM.

Abbreviations and Acronyms   CMR = cardiac magnetic resonance imaging   DCE = delayed contrast enhancement   DTPA = diethylenetriaminepenta-acetic acid   ECG = electrocardiogram   HCM = hypertrophic cardiomyopathy   LV = left ventricle/ventricular   MYBPC3 = cardiac myosin-binding protein C   TPM1 = alpha tropomyosin

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