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(Circulation. 2000;101:e121.)
© 2000 American Heart Association, Inc.

Circulation Electronic Pages

Differences in Cardiac Energetics Between Patients With Familial and Nonfamilial Hypertrophic Cardiomyopathy

Wulf-Ingo Jung, PhD; Thomas Hoess, MS; Michael Bunse, PhD; Stefan Widmaier, PhD

Hypertension and Diabetes Research Unit, Max Grundig Clinic, Bühl, Germany, Physikalisches Institut, University of Tübingen, Tübingen, Germany

Ludger Sieverding, MD; Johannes Breuer, MD; Jürgen Apitz, MD

Division of Pediatric Cardiology, University of Tübingen, Tübingen, Germany

Oliver Schmidt, MS

Division of Pediatric Cardiology University of Tübingen, Tübingen, Germany, Physikalisches Institut, University of Tübingen, Tübingen, Germany

Franz van Erckelens, MD; Guenther J. Dietze, MD

Hypertension and Diabetes Research Unit, Max Grundig Clinic, Bühl, Germany

Otto Lutz, PhD

Physikalisches Institut University of Tübingen, Tübingen, Germany

	Introduction

 
To the Editor:

We have recently shown by ³¹P NMR spectroscopy that abnormalities in the myocardial metabolism occur in asymptomatic patients with hypertrophic cardiomyopathy (HCM).¹ HCM is inherited in about half of the patients (familial hypertrophic cardiomyopathy, FHC). Among the most lethal genetic defects is the Arg403Gln mutation in the ß-cardiac myosin heavy chain.² Using a mouse model of this missense mutation, Spindler et al² showed a possible link between the clinical syndrome of FHC and myocardial energetics by demonstrating decreased phosphocreatine (PCr) and increased inorganic phosphate (P_i) concentrations.

Stimulated by this report, we reanalyzed our data published in this journal¹ for possible differences between FHC and patients without a known family history of HCM (nonfamilial hypertrophic cardiomyopathy, NFHC). The spectroscopic results (mean±SD) for controls (n=11, aged 27±3 years), patients with NFHC (n=8, aged 15±5 years), and patients with FHC (n=6, aged 18±10 years) were as follows: PCr/ATP: 2.46±0.53, 2.10±0.39, and 1.81±0.28 (P=0.01 versus controls); PME (phosphomonoester) · 100/PCr: 8.4±6.7, 14.1±6.2, and 18.9±15.9; P_i · 100/PCr: 9.7±7.2 (n=9), 12.3±4.5 (n=8), and 22.9±8.6 (n=5, P<0.02 versus NFHC, P<0.05 versus controls); and maximum end-diastolic interventricular septum thickness: 10±1, 23±12, and 27±11 mm. The intracellular pH was 7.08±0.03 for all groups.

These new analyses suggest that the severity of metabolic abnormalities is different in FHC and NFHC. This can be concluded from the significantly increased P_i/PCr ratio and from trends toward a greater PME/PCr and a smaller PCr/ATP ratio in FHC. Reduced PCr/ATP and increased P_i/PCr . . . [Full Text of this Article]