Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome
Natural history
Ross T. Murphy, MD,
Jens Mogensen, MD, PhD,
Kate McGarry, MD,
Ajay Bahl, MD,
Alison Evans, PhD,
Eyman Osman, BSc,
Petros Syrris, PhD,
Grainne Gorman, MRCPI,
Michael Farrell, FRCPI,
Janice L. Holton, PhD,
Michael G. Hanna, MD,
Sian Hughes, PhD,
Perry M. Elliott, MD, FACC,
Calum A. MacRae, MB, ChB and
William J. McKenna, MD, FACC*
The Heart Hospital, University College London, London, United Kingdom
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Figure 1 Electrocardiogram of a 28-year-old mutation carrier showing characteristic changes of adenosine monophosphate kinase disease: left ventricular hypertrophy by voltage, short PR interval, delta wave, and bizarre QRS configuration.
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Figure 2 (A) Frozen sections of skeletal muscle showing ragged red fibers indicated by arrows (a: Gomori's trichrome) that are strongly stained in the cytochrome oxidase (b) and succinic dehydrogenase (c) preparations. Fiber typing shows that these fibers are darkly stained type 1 fibers (d: ATPase pH 4.3). Bar in panel a represents 60 µm in panels a, b, c, and d. (B) Ultrastructural examination shows an excess of mitochondria and glycogen (arrow) at the periphery of a muscle fiber (a). Glycogen is sometimes seen within mitochondria (b, arrow). Bar in panel a represents 2 µm in panel a and 1 µm in panel b. (C) Histology from the postmortem myocardium of the 27-year-old patient with sudden cardiac death reveals coarse interstitial fibrosis, with extensive vacuolation of myocytes (arrow), marked pleomorphism of nuclei, and minimal disarray (H+E, x 200). Electron microscopy showed non-specific degenerative changes in mitochondria (not shown).
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Figure 3 (A) Progressive electrocardiogram (ECG) change in adenosine monophosphate kinase disease: ECG of 19-year-old female with a short PR and left ventricular hypertrophy (upper) who developed a new rsR pattern and left-axis deviation by the age of 28 (lower). Her echocardiogram showed maximum left ventricular wall thickness (MLVWT) increasing from 14 to 17 mm. (B) Electrocardiogram of a 28-year-old female at time of initial assessment (upper), with an intraventricular conduction delay (IVCD) and a slurred QRS upstroke, which by age 35 years (lower) shows the development of a more widespread and bizarre IVCD, with diffuse T-wave inversion. This patient had no documented echocardiographic progression of disease, with MLVWT stable at 11 to 12 mm.
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Figure 4 Relationship of age to cumulative pacemaker implantation.
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Figure 5 Change in maximum left ventricular wall thickness (MLVWT) in adults from first assessment as adults with a median follow-up of 10 years (range 7 to 12 years).
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