Deep phenotyping of p.(V142I)‐associated variant transthyretin amyloid cardiomyopathy: Distinct from wild‐type transthyretin amyloidosis?

Aims Transthyretin amyloid cardiomyopathy (ATTR‐CM) is an increasingly recognized cause of heart failure. A total of 3–4% of individuals of African descent carry a TTR gene mutation encoding the p.(V142I) variant, a powerful risk factor for development of variant ATTR‐CM (ATTRv‐CM); this equates to...

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Published in:European journal of heart failure 2024-02, Vol.26 (2), p.383-393
Main Authors: Razvi, Yousuf, Ioannou, Adam, Patel, Rishi K., Chacko, Liza, Karia, Nina, Riefolo, Mattia, Porcari, Aldostefano, Rauf, Muhammad Umaid, Starr, Neasa, Ganesananthan, Sashiananthan, Blakeney, Iona, Kaza, Nandita, Filisetti, Stefano, Bolhuis, Roos Eline, Rowczenio, Dorota, Gilbertson, Janet, Hutt, David, Mahmood, Shameem, Lachmann, Helen J., Wechalekar, Ashutosh D., Kotecha, Tushar, Knight, Daniel S., Coghlan, John G., Petrie, Aviva, Whelan, Carol J., Venneri, Lucia, Martinez‐Naharro, Ana, Hawkins, Phillip, Fontana, Marianna, Gillmore, Julian D.
Format: Article
Language:English
Subjects:
Amyloid
Amyloid Neuropathies, Familial - diagnosis
Amyloid Neuropathies, Familial - genetics
Cardiomyopathies - diagnosis
Cardiomyopathies - genetics
Cardiomyopathy
Heart Failure - genetics
Humans
Prealbumin - genetics
Retrospective Studies
Transthyretin
TTR
V122I
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Summary:Aims Transthyretin amyloid cardiomyopathy (ATTR‐CM) is an increasingly recognized cause of heart failure. A total of 3–4% of individuals of African descent carry a TTR gene mutation encoding the p.(V142I) variant, a powerful risk factor for development of variant ATTR‐CM (ATTRv‐CM); this equates to 1.6 million carriers in the United States. We undertook deep phenotyping of p.(V142I)‐ATTRv‐CM and comparison with wild‐type ATTR‐CM (ATTRwt‐CM). Methods and results A retrospective study of 413 patients with p.(V142I) ATTRv‐CM who attended the UK National Amyloidosis Centre (NAC) was conducted. Patients underwent evaluation at time of diagnosis, including clinical, echocardiography, and biomarker analysis; a subgroup had cardiac magnetic resonance (CMR) imaging. A total of 413 patients with ATTRwt‐CM, matched for independent predictors of prognosis (age, NAC Stage, decade of first presentation), were used as a comparator group. At time of diagnosis, patients with ATTRv‐CM had significant functional impairment by New York Heart Association classification (NHYA class ≥ III; 38%) and 6‐min walk test distance (median 276 m). Median 5‐year survival in ATTRv‐CM patients was 31 versus 59 months in matched patients with ATTRwt‐CM (p 
ISSN:1388-9842
1879-0844
DOI:10.1002/ejhf.3088