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Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness

Thibaud Damy 1 Bruno Costes 2 Albert A. Hagège 3 Erwan Donal 4, 5 Jean-Christophe Eicher 6 Michel Slama 7, 8 Aziz Guellich 1 Stéphane Rappeneau 2, 9 Jean-Pierre Gueffet 10 Damien Logeart 11 Violaine Plante-Bordeneuve 12, 13, 9 Helene Bouvaist 14 Olivier Huttin 15, 16 Geneviève Mulak 17 Jean-Luc Dubois-Randé 18 Michel Goossens 2, 19 Florence Canouï-Poitrine 20, 21 Joel N Buxbaum 22 
Abstract : AIMS: Increased left ventricular wall thickness (LVWT) is a common finding in cardiology. It is not known how often hereditary transthyretin-related familial amyloid cardiomyopathy (mTTR-FAC) is responsible for LVWT. Several therapeutic modalities for mTTR-FAC are currently in clinical trials; thus, it is important to establish the prevalence of TTR mutations (mTTR) and the clinical characteristics of the patients with mTTR-FAC. METHODS AND RESULTS: In a prospective multicentre, cross-sectional study, the TTR gene was sequenced in 298 consecutive patients diagnosed with increased LVWT in primary cardiology clinics in France. Among the included patients, median (25-75th percentiles) age was 62 [50;74]; 74% were men; 23% were of African origin; and 36% were in NYHA Class III-IV. Median LVWT was 18 (16-21) mm. Seventeen (5.7%; 95% confidence interval [CI]: [3.4;9.0]) patients had mTTR of whom 15 (5.0%; 95% CI [2.9;8.2]) had mTTR-FAC. The most frequent mutations were V142I (n = 8), V50M (n = 2), and I127V (n = 2). All mTTR-FAC patients were older than 63 years with a median age of 74 [69;79]. Of the 15 patients with mTTR-FAC, 8 were of African descent while 7 were of European descent. In the African descendants, mTTR-FAC median age was 74 [72;79] vs. 55 [46;65] years in non-mTTR-FAC (P \textless 0.001). In an adjusted multivariate model, African origin, neuropathy, carpal tunnel syndrome, electrocardiogram (ECG) low voltage, and late gadolinium enhancement (LGE) at cardiac-magnetic resonance imaging were all independently associated with mTTR-FAC. CONCLUSION: Five per cent of patients diagnosed with hypertrophic cardiomyopathy have mTTR-FAC. Mutated transthyretin genetic screening is warranted in elderly subjects with increased LVWT, particularly, those of African descent with neuropathy, carpal tunnel syndrome, ECG low voltage, or LGE
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Submitted on : Friday, November 20, 2015 - 11:28:30 AM
Last modification on : Friday, December 2, 2022 - 9:54:12 AM

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Thibaud Damy, Bruno Costes, Albert A. Hagège, Erwan Donal, Jean-Christophe Eicher, et al.. Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness. European Heart Journal, 2016, 37 (23), pp.1826-34. ⟨10.1093/eurheartj/ehv583⟩. ⟨hal-01231415⟩



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