Restrictive Cardiomyopathy in Familial Amyloidosis TTR-Arg-50
A 38-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).
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).
In cardiac catheterization, a normal left ventricular function could be shown angiographically. Normal left ventricular and right ventricular systolic pressures were observed. Only end-diastolic pressures were significantly elevated, with a typical dip-plateau phenomenon (Figure 3). This dip-plateau phenomenon indicates the restrictive component of this form of cardiomyopathy.
In biopsies taken from the stomach and rectum, the deposit of excessive amounts of amyloid could be visualized. Extensive deposits of amyloid were also observed in biopsies taken from the left ventricle (Figure 4). The definitive diagnosis made after noninvasive testing using the 99Tc-MDP scan can be based on the invasively taken myocardial biopsies. In the neurological test, a loss of electrical evoked sympathetic skin reaction was observed, which indicated an autonomic nerve defect.
The editor of Images in Cardiovascular Medicine is Hugh A. McAllister, Jr, MD, Chief, Department of Pathology, St Luke’s Episcopal Hospital and Texas Heart Institute, and Clinical Professor of Pathology, University of Texas Medical School and Baylor College of Medicine.
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