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(Circulation. 2003;107:643.)
© 2003 American Heart Association, Inc.

Images in Cardiovascular Medicine

Restrictive Cardiomyopathy in Familial Amyloidosis TTR-Arg-50

R. Singer, MD; A. Schnabel, MD; R.H. Strasser, MD

From the Medical Clinic, Speyererhof (R.S.); Department of Pathology (A.S.), University of Heidelberg, Heidelberg; and the Department of Cardiology (R.H.S.), University of Technology Dresden, Dresden, Germany.

Correspondence to R.H. Strasser, Medical Clinic II, Department of Cardiology, University of Technology Dresden, Fetscher Str. 76, 01307 Dresden, Germany. E-mail Ruth.Strasser@mailbox.tu-dresden.de

An extract of the first 250 words of the full text is provided, because this article has no abstract.

A38-year-old woman suffered from fatigue, stress-induced dyspnea, and a chronic cough. She also was suffering from loss of body weight (4 kg within 3 months) and constipation.

The patient is the third daughter of a Vietnamese family with inherited heart disease. The members of this family (third generation known to have the heart disease) suffer from fatigue, muscle weakness, atrophy, and cardiac arrhythmias. Symptoms become manifest in the early forties and lead to death after 3 to 10 years (Figure 1).

View larger version (15K): [in this window] [in a new window]   Figure 1. Pedigree of the Vietnamese family. The index patients are indicated by the arrows. The third generation of the family is known to suffer from an inherited heart disease (see text).

Echocardiography revealed a moderate cardiac hypertrophy with slight accentuation in the basal septum, as well as good left ventricular systolic function. Normal valves and atria could be documented.

In the ⁹⁹Tc-methylene-diphosphonate scan (Tc-MDP-scan), a significantly increased incorporation in the heart was observed, indicating the deposition of amyloid (Figure 2B).

View larger version (55K): [in this window] [in a new window]   Figure 2. Shown is the 99Tc-MDP scan of a normal control (A) and of a patient with amyloidosis (index patient 2, B). 99Tc-MDP, which binds in the calcium-binding site of the amyloid, can clearly identify cardiac amyloidosis noninvasively with high sensitivity and specificity and thus is of major prognostic and therapeutic value, especially in families with suspected amyloidosis due to missense mutations of the transthyretin gene.

In cardiac catheterization, a normal left ventricular function could be shown angiographically. Normal left ventricular and right ventricular . . . [Full Text of this Article]

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