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(Circulation. 1999;100:e87.)
© 1999 American Heart Association, Inc.

Circulation Electronic Pages

Familial Dilated Cardiomyopathy

Charles J. McKenna, MD, MRCP

Department of Cardiology Royal Infirmary, Edinburgh, Scotland

	Introduction

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To the Editor:

The article by Ichihara and colleagues published in the November 3, 1998, issue of Circulation describes an association between a G⁹⁹⁴T missense mutation in the plasma platelet-activating factor acetylhydrolase gene and genetic susceptibility to nonfamilial dilated cardiomyopathy (DCM).¹ No definition of nonfamilial DCM is offered. Prospective studies in which relatives of patients with DCM were screened by echocardiography have consistently demonstrated a familial prevalence of at least 25%.^{2 3 4} However, the majority of these relatives are asymptomatic despite demonstrating ongoing disease activity.⁵ Thus, it is not possible to estimate the frequency of familial DCM by history-taking alone. It is conceivable that the patients with DCM demonstrating the gene mutation in the article in question would show a familial tendency if their first-degree relatives were screened by echocardiography. I would be interested to know how familial DCM was excluded in the study and whether any attempt was made to classify familial cases by echocardiographic screening.

	References

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1. Ichihara S, Yamada Y, Yokota M. Association of a G⁹⁹⁴T missense mutation in the plasma platelet-activating factor acetylhydrolase gene with genetic susceptibility to nonfamilial dilated cardiomyopathy in Japanese. Circulation. 1998;98:1881–1885.[Abstract/Free Full Text]

2. Michels VV, Moll PP, Miller FA, Tajik AJ, Chu JS, Driscoll DJ, Burnett JC, Rodeheffer RJ, Chesebro JH, Tazelaar HD. The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy. N Engl J Med. 1992;326:77–82.[Abstract]

3. Keeling PJ, Gang Y, Smith G, Seo H, Bent SE, Murday V, Caforio AL, McKenna WJ. Familial dilated cardiomyopathy in the United Kingdom. Br Heart J. 1995;73:417–421.[Abstract/Free Full Text]

4. McKenna CJ, Codd MB, McCann HA, Sugrue DD. Idiopathic dilated cardiomyopathy: familial prevalence and HLA distribution. Heart. 1997;77:549–552.[Abstract/Free Full Text]

5. McKenna CJ, Sugrue DD, Kwon HM, Sangiorgi G, Carlson PJ, Mahon N, McCann HA, Edwards WD, Holmes DR, Schwartz RS. Histopathologic changes in asymptomatic relatives of patients with idiopathic dilated cardiomyopathy. Am J Cardiol. 1999;83:281–283.[Medline] [Order article via Infotrieve]

Response

Sahoko Ichihara, MD

First Department of Internal Medicine Nagoya University School of Medicine, Nagoya, Japan

Yoshiji Yamada, MD, PhD

Department of Geriatric Research National Institute for Longevity Sciences, Obu, Japan

Mitsuhiro Yokota, MD, PhD, FACC

Department of Clinical Laboratory Medicine Nagoya University School of Medicine, Nagoya, Japan

	Introduction

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We thank Dr McKenna for his valuable comments on our study. In the study published in the November 3, 1998, issue of Circulation,¹ we determined the absence of a family history of patients with dilated cardiomyopathy (DCM) by use of a detailed questionnaire. We have confirmed that there were no relatives diagnosed with DCM, heart failure, or severe arrhythmia or who experienced documented sudden death. However, we have not performed echocardiographic screening in patients' relatives. Although accurate data for the frequency of familial prevalence are currently not available in Japan, familial DCM is relatively rare, especially in middle-aged individuals (mean age of our DCM subjects was 55.8±12.4 years). Therefore, we believe that our DCM subjects were sporadic cases. We agree with Dr McKenna that echocardiographic screening of patients' relatives is important and useful for detection of familial prevalence. Recently, Olson et al² identified missense mutations in the cardiac actin gene as a genetic determinant of familial DCM. There are several more chromosomal loci responsible for familial DCM.³ In the near future, we will need to screen gene mutations to determine whether DCM is familial.

	References

Top Introduction References Introduction  References

 
1. Ichihara S, Yamada Y, Yokota M. Association of a G⁹⁹⁴T missense mutation in the plasma platelet-activating factor acetylhydrolase gene with genetic susceptibility to nonfamilial dilated cardiomyopathy in Japanese. Circulation. 1998;98:1881–1885.

2. Olson TM, Michels VV, Thibodeau SN, Tai Y-S, Keating MT. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science. 1998;280:750–752.[Abstract/Free Full Text]

3. Olson TM, Keating MT. Defining the molecular genetic basis of idiopathic dilated cardiomyopathy. Trends Cardiovasc Med. 1997;7:60–63.

This Article Extract Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Request Permissions Citing Articles Citing Articles via Google Scholar Google Scholar Articles by McKenna, C. J. Articles by Yokota, M. Search for Related Content PubMed PubMed Citation Articles by McKenna, C. J. Articles by Yokota, M. Pubmed/NCBI databases Compound via MeSH Substance via MeSH Medline Plus Health Information Cardiomyopathy Related Collections Platelets Endothelium/vascular type/nitric oxide