This Article Full Text 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 Ommen, S. R. Articles by Tajik, A. J. Search for Related Content PubMed PubMed Citation Articles by Ommen, S. R. Articles by Tajik, A. J.

(Circulation. 2001;104:126.)
© 2001 American Heart Association, Inc.

Editorial

Hypertrophic Cardiomyopathy

From Bedside to Bench ... And Now Back Again?

Steve R. Ommen, MD; A. Jamil Tajik, MD

Key Words: Editorials • cardiomyopathy • echocardiography • genetics

Hypertrophic cardiomyopathy (HCM) is a fascinating disease that has intrigued and challenged cardiologists for decades. Initially a diagnosis made by master clinicians adept at translating bedside dynamic auscultation into hemodynamic pathophysiology, HCM continues to challenge the frontiers of diagnosis and technology. The development of 2D and Doppler echocardiography provided the greatest increment in understanding the complexity of HCM. While clinicians at large became skilled at the bedside detection of dynamic left ventricular outflow obstruction, echocardiography revealed that many more patients had unexplained left ventricular hypertrophy (LVH) consistent with HCM but without evidence of obstruction. In fact, the nonobstructive, "silent" forms are more frequent than the obstructive, "noisy" variants. The pattern and severity of LVH are now appreciated as heterogeneous and diastolic dysfunction as highly prevalent.

See p 128

The next frontier broached in terms of understanding the pathophysiology of HCM came in 1989 with the discovery that mutations in the genes coding for the proteins of the cardiac sarcomere were associated with familial HCM.¹ Although long recognized clinically that a significant proportion of HCM occurred in a familial pattern, the gene discovery offered the potential for new insight to the pathophysiology of HCM. One particular challenge in the clinical management of HCM is the screening of family members, which has relied on echocardiographic and electrocardiographic evidence of LVH. The uncovering of the HCM mutation offered the potential of blood test screening that could be more accurate than clinical detection of LVH. However, the realization of the molecular complexity of HCM . . . [Full Text of this Article]