Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2012 Dec;20(4):209-12.
doi: 10.4250/jcu.2012.20.4.209. Epub 2012 Dec 31.

Familial Transthyretin Amyloidosis with Variant Asp38Ala Presenting with Orthostatic Hypotension and Chronic Diarrhea

Hyun Jun Cho  1 , Jae Yong Yoon, Myung Hwan Bae, Jang Hoon Lee, Dong Heon Yang, Hun Sik Park, Yongkeun Cho, Shung Chull Chae, Jae Eun Jun
Affiliations
Case Reports

Familial Transthyretin Amyloidosis with Variant Asp38Ala Presenting with Orthostatic Hypotension and Chronic Diarrhea

Hyun Jun Cho et al. J Cardiovasc Ultrasound. 2012 Dec.

Abstract

A 53-year-old man complained of orthostatic, non-rotating dizziness, and chronic watery diarrhea of several years duration. His nerve-conduction velocity test revealed peripheral sensory-motor polyneuropathy and he showed an autonomic function abnormality. Echocardiographic examination showed ventricular and atrial wall thickening with a granular "sparkling" appearance. Left ventricular systolic function was preserved but pseudonormal diastolic dysfunction was present. Coronary angiography showed normal coronary arteries and an endomyocardial biopsy revealed lesions consistent with cardiac amyloidosis. Colonoscopic biopsy also revealed the deposition of amyloid fibrils. Gene analysis found the transthyretin variant Asp38Ala. His son had same mutation, but three daughters did not. In conclusion, we report a case of familial transthyretin amyloidosis with Asp38Ala.

Keywords: Amyloidosis; Asp38Ala; Orthostatic hypotension; Polyneuropathy; Transthyretin.

PubMed Disclaimer

Figures

Fig. 1
Fig. 1
Two-dimensional transthoracic echocardiography. Biventricular hypertrophy and the thickened inter-atrial septum are shown in a parasternal long-axis view (A), four-chamber view (B and C).
Fig. 2
Fig. 2
Pulse-waved Doppler echocardiogram (A) and tissue Doppler echocardiogram (B) showing and elevated E/Ea ratio and low mitral annulus velocities, suggestive of diastolic dysfunction with a pseudonormal pattern.
Fig. 3
Fig. 3
Light microscopy finding of tissue obtained by cardiac biopsy (haematoxylin and eosin stained, original magnification × 40). Amyloid appears as pink-hyaline extracellular deposits (black arrows) between myocytes and in blood vessels.
Fig. 4
Fig. 4
Electron microscopy of cardiac tissue. Electron microscopy demonstrated fibrils typical of amyloid at the edge of a myocytes (A). The edge of a myocyte (lower left) and above it is a mass of amyloid fibrils (B).
Fig. 5
Fig. 5
Transthyretin gene analysis in the patient and his offspring (A: patient, B: daughter 1, C: daughter 2, D: daughter 3, E: son). A: The patient was diagnosed as transthyretin amyloidosis (ATTR) variant Asp38Ala. E: The patient's offspring were screening for ATTR, but only his son had the same mutation.
See this image and copyright information in PMC

References

    1. Falk RH, Comenzo RL, Skinner M. The systemic amyloidoses. N Engl J Med. 1997;337:898–909. - PubMed
    1. Westermark P, Benson MD, Buxbaum JN, Cohen AS, Frangione B, Ikeda S, Masters CL, Merlini G, Saraiva MJ, Sipe JD. Amyloid fibril protein nomenclature -- 2002. Amyloid. 2002;9:197–200. - PubMed
    1. Westermark P, Benson MD, Buxbaum JN, Cohen AS, Frangione B, Ikeda S, Masters CL, Merlini G, Saraiva MJ, Sipe JD. A primer of amyloid nomenclature. Amyloid. 2007;14:179–183. - PubMed
    1. Ando Y, Nakamura M, Araki S. Transthyretin-related familial amyloidotic polyneuropathy. Arch Neurol. 2005;62:1057–1062. - PubMed
    1. Falk RH, Dubrey SW. Amyloid heart disease. Prog Cardiovasc Dis. 2010;52:347–361. - PubMed

Publication types