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Cardiac Fabry's disease: an unusual cause of left ventricular hypertrophy

Nature Clinical Practice Cardiovascular Medicine volume 4, pages 630–633 (2007)Cite this article

Abstract

Background A 64-year-old male was observed as an outpatient with atypical, non-exercise-induced chest pain and palpitations. He had arterial hypertension and marked concentric left ventricular hypertrophy. After 2.5 years of antihypertensive drug therapy the patient's blood pressure had returned to normal, but his left ventricular hypertrophy was unchanged.

Investigations Electrocardiography, transthoracic echocardiography, myocardial perfusion scintigraphic imaging, measurement of α-galactosidase A activity, gene sequencing, brain MRI, carotid artery ultrasonography, biochemical renal evaluation and cardiac Doppler tissue imaging.

Diagnosis Cardiac Fabry's disease.

Management Losartan, hydrochlorothiazide, low-dose aspirin and bisoprolol. The patient is expected to begin enzyme replacement therapy.

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Figure 1: Electrocardiogram recorded at presentation, demonstrating left ventricular hypertrophy with strain pattern.
Figure 2: Transthoracic echocardiographic images obtained 4 years and 4 months after the patient's initial presentation.

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Author information

Authors and Affiliations

  1. JPL Nunes and O Costa are Associate Professors in the Faculty of Medicine at the University of Porto, M do S Faria is a Nephrology Consultant at Hospital Maria Pia, PB Almeida is a Cardiologist and Chief of Echocardiography at the Institute of Radiology, and L Lacerda is Head of the Enzymology Unit at the Institute of Medical Genetics Jacinto Magalhães, Porto, Portugal.,

    José Pedro L Nunes, Ovídio Costa, Maria do Sameiro Faria, Pedro Bernardo Almeida & Lúcia Lacerda

Authors
  1. José Pedro L Nunes
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  2. Ovídio Costa
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  3. Maria do Sameiro Faria
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  4. Pedro Bernardo Almeida
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  5. Lúcia Lacerda
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Corresponding author

Correspondence to José Pedro L Nunes.

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The authors declare no competing financial interests.

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Nunes, J., Costa, O., do Sameiro Faria, M. et al. Cardiac Fabry's disease: an unusual cause of left ventricular hypertrophy. Nat Rev Cardiol 4, 630–633 (2007). https://doi.org/10.1038/ncpcardio1012

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