Impact of Laboratory Molecular Diagnosis on Contemporary Diagnostic Criteria for Genetically Transmitted Cardiovascular Diseases: Hypertrophic Cardiomyopathy, Long-QT Syndrome, and Marfan Syndrome : A Statement for Healthcare Professionals From the Councils on Clinical Cardiology, Cardiovascular Disease in the Young, and Basic Science, American Heart Association

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Circulation. 1998;98:1460-1471

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	AHA Statements and Guidelines

(Circulation. 1998;98:1460-1471.)
© 1998 American Heart Association, Inc.

AHA Medical/Scientific Statement

Impact of Laboratory Molecular Diagnosis on Contemporary Diagnostic Criteria for Genetically Transmitted Cardiovascular Diseases: Hypertrophic Cardiomyopathy, Long-QT Syndrome, and Marfan Syndrome

A Statement for Healthcare Professionals From the Councils on Clinical Cardiology, Cardiovascular Disease in the Young, and Basic Science, American Heart Association

Barry J. Maron, MD, Chair; James H. Moller, MD, Cochair; Christine E. Seidman, MD; G. Michael Vincent, MD; Harry C. Dietz, MD; Arthur J. Moss, MD; Jeffrey A. Towbin, MD; Henry M. Sondheimer, MD; Reed E. Pyeritz, MD, PhD; Glenn McGee, PhD; ; Andrew E. Epstein, MD

Key Words: genetics • long-QT syndrome • cardiovascular diseases • cardiomyopathy, hypertrophic • Marfan syndrome • diagnosis

Over the last several years, substantial progress has been achievedin defining the molecular basis for several genetically transmitted,nonatherosclerotic cardiovascular diseases.¹ ² ³ ⁴ ⁵ ⁶ ⁷ ⁸ ⁹¹⁰ ¹¹ ¹² ¹³ ¹⁴ ¹⁵ ¹⁶ ¹⁷ ¹⁸ ¹⁹ ²⁰ ²¹ ²² ²³ ²⁴ ²⁵ ²⁶ ²⁷ ²⁸ ²⁹³⁰ ³¹ ³² ³³ ³⁴ ³⁵ ³⁶ ³⁷ ³⁸ ³⁹ ⁴⁰ ⁴¹ ⁴² ⁴³ ⁴⁴ ⁴⁵ ⁴⁶ ⁴⁷ ⁴⁸ ⁴⁹⁵⁰ ⁵¹ ⁵² ⁵³ ⁵⁴ ⁵⁵ ⁵⁶ ⁵⁷ ⁵⁸ ⁵⁹ ⁶⁰ ⁶¹ ⁶² ⁶³ ⁶⁴ ⁶⁵ ⁶⁶ ⁶⁷ Theseadvances in molecular biology have enhanced our understandingof the primary defects and basic mechanisms responsible forthe pathogenesis of these conditions and their phenotypic expression,and in the process, new perspectives on cardiac diagnosis havebeen formulated. In the course of this scientific evolution,a certain measure of uncertainty has also arisen regarding theimplications of genetic analysis for clinical diagnostic criteria.

New subgroups of genetically affected individuals without conventional clinicaldiagnostic findings have been identified solely by virtue ofaccess to molecular laboratory techniques, creating a number ofmedical and ethical concerns regarding the possible clinical implications.Indeed, the extent to which such individuals should receivesequential evaluations and/or therapy or be subjected to employmentor insurance discrimination, psychological harm, loss of privacy,or unnecessary withdrawal from competitive athletics is uncertainbut remains a legitimate source of concern.⁶⁸ ⁶⁹ ⁷⁰ ⁷¹

It is therefore particularly timely and appropriate to analyze theseissues in detail, specifically the extent to which molecular biologyhas revised traditional diagnostic criteria. The role of genetictesting in assessing prognosis and identifying high-risk subgroupsor in defining basic disease mechanisms and pathophysiologyis, however, largely beyond the scope of this scientific statement.As models for the present critique, we selected the 3 most commonfamilial cardiovascular diseases for which gene defects havebeen identified, each of which is associated with autosomaldominant inheritance and . . . [Full Text of this Article]

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				B. J. Maron Hypertrophic Cardiomyopathy: A Systematic Review JAMA, March 13, 2002; 287(10): 1308 - 1320. [Abstract] [Full Text] [PDF]

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