Logo of brheartjLink to Publisher's site
Br Heart J. Mar 1987; 57(3): 296–299.
PMCID: PMC1216430

A case of heterozygous Fabry's disease with a short PR interval and giant negative T waves.


A 55 year old woman with heterozygous Fabry's disease presented with cardiac symptoms. The electrocardiogram showed a PR interval of 0.12 s and giant negative T waves, suggesting apical hypertrophic cardiomyopathy. Endomyocardial biopsy, however, revealed myelin like substances characteristic of Fabry's disease. Increasing thickness of the left ventricular wall was seen by echocardiography over a period of five years. A deficiency of alpha galactosidase activity in the leucocytes confirmed the diagnosis of Fabry's disease, although this patient had neither angiokeratoma or proteinuria. The possibility of Fabry's disease should be considered in patients with cardiomegaly of unknown cause and the following electrocardiographic abnormalities: a PR interval less than or equal to 0.12 s, high voltage QRS complexes in the left precordial leads, and giant negative T waves.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (1.0M), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Images in this article

Click on the image to see a larger version.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Kurotaki M. [Differential staining of epon-resin-embedded tissue for light microscopy observation (including review of the literature on general technics of semi-thin sectioning)]. Kaibogaku Zasshi. 1972 Jun;47(3):237–250. [PubMed]
  • Broadbent JC, Edwards WD, Gordon H, Hartzler GO, Krawisz JE. Fabry cardiomyopathy in the female confirmed by endomyocardial biopsy. Mayo Clin Proc. 1981 Oct;56(10):623–628. [PubMed]
  • Rodriguez FH, Jr, Hoffmann EO, Ordinario AT, Jr, Baliga M. Fabry's disease in a heterozygous woman. Arch Pathol Lab Med. 1985 Jan;109(1):89–91. [PubMed]
  • Suzuki K. Enzymic diagnosis of sphingolipidoses. Methods Enzymol. 1978;50:456–488. [PubMed]
  • Burda CD, Winder PR. Angiokeratoma corporis diffusum universale (Fabry's disease) in female subjects. Am J Med. 1967 Feb;42(2):293–301. [PubMed]
  • Matsui S, Murakami E, Takekoshi N, Hiramaru Y, Kin T. Cardiac manifestations of Fabry's disease. Report of a case with pulmonary regurgitation diagnosed on the basis of endomyocardial biopsy findings. Jpn Circ J. 1977 Sep;41(9):1023–1036. [PubMed]
  • LYON MF. Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature. 1961 Apr 22;190:372–373. [PubMed]
  • Romeo G, Migeon BR. Genetic inactivation of the alpha-galactosidase locus in carriers of Fabry's disease. Science. 1970 Oct 9;170(3954):180–181. [PubMed]
  • Sakamoto T, Tei C, Murayama M, Ichiyasu H, Hada Y. Giant T wave inversion as a manifestation of asymmetrical apical hypertrophy (AAH) of the left ventricle. Echocardiographic and ultrasono-cardiotomographic study. Jpn Heart J. 1976 Sep;17(5):611–629. [PubMed]
  • Yamaguchi H, Ishimura T, Nishiyama S, Nagasaki F, Nakanishi S, Takatsu F, Nishijo T, Umeda T, Machii K. Hypertrophic nonobstructive cardiomyopathy with giant negative T waves (apical hypertrophy): ventriculographic and echocardiographic features in 30 patients. Am J Cardiol. 1979 Sep;44(3):401–412. [PubMed]
  • Toole JF. Informed consent. Circulation. 1973 Jul;48(1):1–4. [PubMed]
  • Applefeld MM, Billingsley LM, Tucker HJ, Fiset P. Q fever endocarditis--a case occurring in the United States. Am Heart J. 1977 May;93(5):669–670. [PubMed]

Articles from British Heart Journal are provided here courtesy of BMJ Group


Related citations in PubMed

See reviews...See all...

Cited by other articles in PMC

See all...


  • MedGen
    Related information in MedGen
  • PubMed
    PubMed citations for these articles

Recent Activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...