Utility of Genetic Testing in Patients with Transthyretin Amyloid Cardiomyopathy: A Brief Review

Transthyretin amyloid cardiomyopathy (ATTR-CM) is an increasingly diagnosed condition. Although wild-type transthyretin amyloidosis (ATTRwt) is the most common ATTR-CM, hereditary transthyretin amyloidosis (ATTRv) may also occur. Currently, genetic testing for transthyretin pathogenic variants is re...

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Published in:Biomedicines 2024-01, Vol.12 (1), p.25
Main Authors: Merino-Merino, Ana-Maria, Labrador-Gomez, Jorge, Sanchez-Corral, Ester, Delgado-Lopez, Pedro-David, Perez-Rivera, Jose-Angel
Format: Article
Language:English
Subjects:
Age
Algorithms
Amyloidosis
Aortic stenosis
Artificial intelligence
Cardiomyopathy
Care and treatment
Disease
Drug delivery
Ejection fraction
family screening
Genetic counseling
Genetic screening
Genetic testing
genetics
Heart diseases
Heart failure
Laboratories
Medical genetics
Mutation
Older people
Patients
Polyneuropathy
Transthyretin
transthyretin amyloidosis
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Summary:Transthyretin amyloid cardiomyopathy (ATTR-CM) is an increasingly diagnosed condition. Although wild-type transthyretin amyloidosis (ATTRwt) is the most common ATTR-CM, hereditary transthyretin amyloidosis (ATTRv) may also occur. Currently, genetic testing for transthyretin pathogenic variants is recommended for patients with a confirmed clinical diagnosis of ATTR-CM. In fact, confirmation of this autosomal dominant pathogenic variant prompts genetic counselling and allows early identification of affected relatives. Additionally, in the presence of an ATTR-CM-associated polyneuropathy, specific drugs targeting transthyretin can be used. In this paper, we review the utility of genetic testing for the detection of pathogenic variants among patients harboring ATTR-CM and its impact on the natural history of the disease.
ISSN:2227-9059
2227-9059
DOI:10.3390/biomedicines12010025