Niall G. Mahon, MD; Ross T. Murphy, MD; Calum A. MacRae, MD; Alida L.P. Caforio, MD; Perry M. Elliott, MD; William J. McKenna, MD
Acknowledgments: The authors gratefully acknowledge the contributions of Phil Keeling, Jonathan Goldman, Kamran Baig, Carol Page, and Mary Gould to this work.
Grant Support: Drs. Mahon, Murphy, and McKenna were supported by the British Heart Foundation, and Dr. Caforio was supported by the Veneto Region Target Project and the Ministero dell'Università e della Ricerca Scientifica e Tecnologica (MURST) Target project.
Potential Financial Conflicts of Interest: Grants pending: C.A. MacRae (National Institutes of Health).
Requests for Single Reprints: William J. McKenna, MD, The Heart Hospital, Westmoreland Street, London W1G 8PH, United Kingdom; e-mail, firstname.lastname@example.org.
Current Author Addresses: Dr. Mahon: Department of Cardiology, Mater Misericordiae Hospital, Eccles Street, Dublin 7, Ireland.
Drs. Murphy, Elliott, and McKenna: The Heart Hospital, Westmoreland Street, London W1G 8PH, United Kingdom.
Dr. McRae: Cardiovascular Research Center, 149 13th Street, 4th Floor, Charlestown, MA 02129.
Dr. Caforio: Division of Cardiology, Department of Clinical and Experimental Medicine, University of Padua, Policlinico Universitario, Centro V. Gallucci, via N. Giustiniani, 2, 35128 Padova, Italy.
Author Contributions: Conception and design: N.G. Mahon, C.A. MacRae, A.L.P. Caforio, P.M. Elliott, W.J. McKenna.
Analysis and interpretation of the data: N.G. Mahon, P.M. Elliott, W.J. McKenna.
Drafting of the article: N.G. Mahon, R.T. Murphy, W.J. McKenna.
Critical revision of the article for important intellectual content: R.T. Murphy, C.A. MacRae, A.L.P. Caforio.
Final approval of the article: C.A. MacRae, P.M. Elliott, A.L.P. Caforio, W.J. McKenna.
Provision of study materials or patients: N.G. Mahon.
Statistical expertise: N.G. Mahon.
Obtaining of funding: N.G. Mahon, W.J. McKenna.
Administrative, technical, or logistic support: P.M. Elliott, W.J. McKenna.
Collection and assembly of data: N.G. Mahon, R.T. Murphy.
Mahon NG, Murphy RT, MacRae CA, Caforio AL, Elliott PM, McKenna WJ. Echocardiographic Evaluation in Asymptomatic Relatives of Patients with Dilated Cardiomyopathy Reveals Preclinical Disease. Ann Intern Med. 2005;143:108-115. doi: 10.7326/0003-4819-143-2-200507190-00009
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Published: Ann Intern Med. 2005;143(2):108-115.
Idiopathic dilated cardiomyopathy is familial in 25% of cases. However, identifying asymptomatic affected relatives is difficult because there is no specific molecular marker for the disease and penetrance of the genetic defect is incomplete. The natural history of asymptomatic disease is poorly defined.
Clinical evaluation of asymptomatic relatives of patients with dilated cardiomyopathy showed that those with left ventricular enlargement or depressed fractional shortening were nearly 8 times as likely to progress to dilated cardiomyopathy as those with normal findings.
Screening of asymptomatic relatives of patients with dilated cardiomyopathy seems useful since early treatment may improve prognosis in affected individuals.
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