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(Circulation. 2000;102:e112.)
© 2000 American Heart Association, Inc.

Images in Cardiovascular Medicine

Novel Mutation in the -Tropomyosin Gene and Transition From Hypertrophic to Hypocontractile Dilated Cardiomyopathy

Vera Regitz-Zagrosek, MD; Jeanette Erdmann, PhD; Ernst Wellnhofer, MD; Jörg Raible; Eckart Fleck, MD

From the Department of Internal Medicine/Cardiology, Charite, Campus Virchow Klinikum, Humboldt Universität Berlin and Deutsches Herzzentrum Berlin, Germany.

Correspondence to Vera Regitz-Zagrosek, DHZB, Augustenburger Platz 1, 13353 Berlin, Germany. E-mail zagrosek@dhzb.de

Awoman born in 1960 presented at age 14 years with exertional dyspnea, sinus rhythm, and left ventricular (LV) hypertrophy as shown by ECG. Hypertrophic nonobstructive cardiomyopathy (HNCM) was diagnosed by cardiac catheterization. An outflow tract gradient at rest or exercise was excluded. An echocardiogram 5 years later showed severe septal hypertrophy (Figure 1). When the patient was 30 years old, repeat right and left heart catheterization confirmed HNCM (Figure 2). A biopsy showed myocyte hypertrophy, only discrete signs of myocyte disarray, and discrete interstitial fibrosis (eosin–van Gieson stain, not shown) (Figure 3).

View larger version (128K): [in this window] [in a new window]   Figure 1. M-mode echocardiography at age 18 years. Septum 24 mm, posterior wall 12 mm, end-diastolic dimension 46 mm, fractional shortening 0.32.

View larger version (123K): [in this window] [in a new window]   Figure 2. Angiograms at age 30 years. A, Left heart catheterization confirmed HNCM (LVEF 58%). B, Angiogram in right anterior oblique projection of right ventricle. Thickened septum impresses right ventricle (right ventricular EF 61%). C, Left anterior oblique angiograms of right and left ventricle in same position are superimposed using pigtail catheter for identification. Hypertrophic septum (calculated septal thickness >2 cm) is marked.

View larger version (145K): [in this window] [in a new window]   Figure 3. Endomyocardial biopsy at age 30 years. Top, Myocyte hypertrophy (myocyte diameter: mean 19.2 µm, range 15 to 30 µm) with bizarrely shaped nuclei and (bottom) signs of myocyte disarray (hematoxylin-eosin stains).

When the patient was 37 years old, regression of LV hypertrophy on the ECG and systolic dysfunction were observed. The echocardiogram showed decreased systolic function and wall thinning (septum 12 mm, posterior wall 8 mm, LV end-diastolic dimension 63 mm, fractional shortening 16%). . . . [Full Text of this Article]