Unexplained cardiac failure leading to the identification of a Belgian family affected by hereditary amyloidosis

We report the diagnosis of hereditary amyloidosis that affected a Belgian family that was initially diagnosed in a 73 year old woman. This patient was admitted with complaints of congestive heart failure. Cardiac work-up showed myocardial hypertrophy with zones of hyperintensity, suggestive for amyl...

Full description

Saved in:
Bibliographic Details
Published inActa clinica belgica (English ed. Online) Vol. 68; no. 4; pp. 303 - 305
Main Authors De Pasqual, A, Biessaux, Y, Blettard, N, Crémers, S, Caers, J
Format Journal Article
LanguageEnglish
Published England Taylor & Francis Ltd 01.07.2013
Subjects
Aged
Amyloid Neuropathies, Familial - complications
Amyloid Neuropathies, Familial - genetics
Disease
Female
Heart Failure - etiology
Heart Failure - genetics
Humans
Light
Male
Mutation
Patients
Polypeptides
Prealbumin - genetics
Proteins
Transplants & implants
Online AccessGet full text

Cover

More Information
Summary:We report the diagnosis of hereditary amyloidosis that affected a Belgian family that was initially diagnosed in a 73 year old woman. This patient was admitted with complaints of congestive heart failure. Cardiac work-up showed myocardial hypertrophy with zones of hyperintensity, suggestive for amyloidosis that was confirmed on a rectal biopsy. A hereditary form of amyloidosis was found by showing the Val30Met mutation within the transthyretin gene, that was also found in her asymptomatic son. This case shows that genetic testing is crucial in cases of unexplained amyloidosis and can help in the diagnosis and follow-up of patients and family members.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:1784-3286
2295-3337
DOI:10.2143/ACB.3268