European Journal of Echocardiography Advance Access originally published online on May 20, 2008
European Journal of Echocardiography 2008 9(6):831-832; doi:10.1093/ejechocard/jen170
Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2008. For permissions please email: journals.permissions@oxfordjournals.org
Nomen est Omen
F. Weidemann*,
C Wanner and
F. Breunig
Department of Medicine/Nephrology, University of Würzburg, Josef-Schneider Str. 2, D 20, 97080 Wuerzburg, Germany
Received 10 March 2008; accepted after revision 26 April 2008; online publish-ahead-of-print 20 May 2008.
* Corresponding author. Tel: +49 931 2010; fax: +49 931 20136291. E-mail address: weidemann_f{at}medizin.uni-wuerzburg.de
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Abstract
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A 47-year-old woman was referred with increasing dyspnoea and
neuropathic pain. During echocardiography, she showed the typical
signs for a Fabry cardiomyopathy: global left ventricular function
was normal with an ejection fraction of 65%. She had a concentric
left ventricular hypertrophy with very prominent papillary muscles.
In addition, the magnetic resonance tomography showed regional
late enhancement in the postero-lateral wall which is the typical
location of fibrosis in Fabry patients. She suffered from a
genetically proven Fabry disease, and interestingly her family
name is Mrs Fabry. Thus summarized, Mrs Fabry with a confirmed
Fabry disease presented with a typically Fabry cardiomyopathy.
Keywords: Fabry; Cardiomyopathy; Echocardiography
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Case report
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A 47-year-old woman was referred with increasing dyspnoea on
exertion over 3 years. She had apparently been healthy without
known heart disease. No murmurs had been described. She had
observed occasional discomfort in her hands and feet that was
triggered by very warm or cold temperatures. Sometimes, the
pain was disabling and could last for several hours. On physical
examination, the vital signs were normal. She had no corneal
abnormalities, no cutaneous findings, and her neurological examination
was normal. She had no overt evidence of cardiac enlargement,
although an intermittent fourth heart sound and a mild systolic
apical murmur were heard. Her laboratory tests were normal.
An echocardiogram revealed a normal ejection fraction of 65%. A concentric left ventricular hypertrophy (end-diastolic wall thickness of 14 mm) with very prominent papillary muscles were detected (Figure 1). The diastolic function was impaired and mild mitral insufficiency was seen. We were led to the diagnosis by her family history and were bemused when she announced her name was Fabry. Laboratory tests revealed a 50% reduction in alpha-galactosidase-A serum activity and the diagnosis of Fabry disease was confirmed by mutational analysis (deletion I354fsdel 15 bp). Cardiac magnetic resonance imaging demonstrated regional late enhancement in the postero-lateral wall typical for myocardial fibrosis in advanced Fabry cardiomyopathy.1 Renal function was normal without detectable proteinuria. There was no evidence for cerebrovascular involvement. We have followed over 120 patients with Fabry disease at our hospital over the last 6 years. We believe that the cardiac features of Fabry cardiomyopathy with prominent papillary muscles and fibrosis in the postero-lateral wall are unique.
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Figure 1 An echocardiographic parasternal image of the heart of Mrs Fabry. The dotted line indicates the prominent papillary muscle which is typical for a Fabry cardiomyopathy. LA, left atrium; LV, left ventricle.
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Fabry disease is caused by a mutation in the gene encoding alpha-galactosidase-A
that is needed to metabolize lipids. Since the gene is carried
on the X chromosome, women are heterozygous and so have in the
past been considered as carriers. However, some women harbouring
the gene mutation may have symptoms of the disease. Symptoms
usually begin during childhood or adolescence and include burning
sensations in the hands and feet that gets worse with exercise
and hot weather and small, raised reddish-purple papules on
the skin. Lipid storage may lead to impaired arterial circulation
and increased risk of heart attack or stroke. The heart may
also become enlarged and the kidneys may become progressively
involved. Eye manifestations, especially corneal deposits, may
also be observed. Other symptoms include decreased sweating,
fever, and gastrointestinal difficulties, particularly after
eating. Johannes Fabry (1860–1930) from Germany and William
Anderson from the UK, both dermatologists, independently described
the disease in 1898. Our patient's name was obviously a coincidence
and she was not related to the original describer. However,
‘nomen est omen’ (which in Latin means the name
is telling something about the future). Specific enzyme replacement
therapy, which has proved to be efficient in male and female
Fabry patients, was started to prevent further deterioration
of disease.
2
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Supplementary data
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Supplementary data are available at European Journal of Echocardiography online.
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Acknowledgement
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The authors gratefully acknowledge the thoughtful comments of
Prof Friedrich Luft, Berlin, Germany, in preparing the manuscript.
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References
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- Moon JC, Sachdev B, Elkington AG, McKenna WJ, Mehta A, Pennell DJ, et al. Gadolinium enhanced cardiovascular magnetic resonance in Anderson–Fabry disease. Evidence for a disease specific abnormality of the myocardial interstitium. Eur Heart J (2003) 24:2151–5.[Abstract/Free Full Text]
- Weidemann F, Breunig F, Beer M, Sandstede J, Turschner O, Voelker W, et al. Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease. A prospective strain rate imaging study. Circulation (2003) 108:1299–301.[Abstract/Free Full Text]
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Abstract
Case report