PMID- 26537620 OWN - NLM STAT- MEDLINE DCOM- 20180123 LR - 20180210 IS - 1522-9645 (Electronic) IS - 0195-668X (Linking) VI - 37 IP - 23 DP - 2016 Jun 14 TI - Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness. PG - 1826-34 LID - 10.1093/eurheartj/ehv583 [doi] AB - 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 < 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. CI - Published on behalf of the European Society of Cardiology. All rights reserved. (c) The Author 2015. For permissions please email: journals.permissions@oup.com. FAU - Damy, Thibaud AU - Damy T AD - Department of Cardiology, UPEC, AP-HP Henri-Mondor Teaching Hospital, Inserm U955, IMRB GRC Mondor Amyloidosis Network, DHU ATVB and Inserm Clinical Investigation Center 1430, 51 Avenue Marechal de Lattre de Tassigny, Creteil F-94000, France thibaud.damy@hmn.aphp.fr. FAU - Costes, Bruno AU - Costes B AD - Department of Genetics and Biochemistry, UPEC, AP-HP Henri-Mondor Teaching Hospital, Inserm U955, IMRB, Creteil F-94000, France. FAU - Hagege, Albert A AU - Hagege AA AD - Department of Cardiology, Paris Descartes University, PRES Paris Sorbonne, AP-HP, Hopital Europeen Georges Pompidou, Inserm UMR970, Paris Cardiovascular Research Center, Paris, France. FAU - Donal, Erwan AU - Donal E AD - Department of Cardiology, Universite Rennes 1, Rennes Teaching Hospital, LTSI, INSERM 1099, Inserm Clinical Investigation Center-IT U 804, Rennes, France. FAU - Eicher, Jean-Christophe AU - Eicher JC AD - Department of Cardiology, Dijon Universiy, Hopital Bocage Central, Dijon Teaching Hospital, Dijon, France. FAU - Slama, Michel AU - Slama M AD - Department of Cardiology, Paris-Sud University, AP-HP A. Beclere Teaching Hospital, Beclere, 92140 Clamart, France. FAU - Guellich, Aziz AU - Guellich A AD - Department of Cardiology, UPEC, AP-HP Henri-Mondor Teaching Hospital, Inserm U955, IMRB GRC Mondor Amyloidosis Network, DHU ATVB and Inserm Clinical Investigation Center 1430, 51 Avenue Marechal de Lattre de Tassigny, Creteil F-94000, France. FAU - Rappeneau, Stephane AU - Rappeneau S AD - Department of Cardiology, UPEC, AP-HP Henri-Mondor Teaching Hospital, Inserm U955, IMRB GRC Mondor Amyloidosis Network, DHU ATVB and Inserm Clinical Investigation Center 1430, 51 Avenue Marechal de Lattre de Tassigny, Creteil F-94000, France. FAU - Gueffet, Jean-Pierre AU - Gueffet JP AD - Hopital G et R Laennec, Institut du Thorax, 44093 Nantes Cedex1, France. FAU - Logeart, Damien AU - Logeart D AD - Department of Cardiology, Denis Diderot University, AP-HP, Lariboisiere Hospital, 75010 Paris, France. FAU - Plante-Bordeneuve, Violaine AU - Plante-Bordeneuve V AD - Department of Neurology, UPEC, AP-HP Henri-Mondor Teaching Hospital, Inserm U955, IMRB GRC Mondor Amyloidosis Network, Inserm Clinical Investigation Center 1430, Creteil F-94000, France. FAU - Bouvaist, Helene AU - Bouvaist H AD - Department of Cardiology, Grenoble Teaching Hospital, Grenoble, France. FAU - Huttin, Olivier AU - Huttin O AD - Department of Cardiologie, Institut Lorrain du Coeur et des Vaisseaux, 54511 Vandoeuvre-les-Nancy, France. FAU - Mulak, Genevieve AU - Mulak G AD - Societe Francaise de Cardiologie, Paris, France. FAU - Dubois-Rande, Jean-Luc AU - Dubois-Rande JL AD - Department of Cardiology, UPEC, AP-HP Henri-Mondor Teaching Hospital, Inserm U955, IMRB GRC Mondor Amyloidosis Network, DHU ATVB and Inserm Clinical Investigation Center 1430, 51 Avenue Marechal de Lattre de Tassigny, Creteil F-94000, France. FAU - Goossens, Michel AU - Goossens M AD - Department of Genetics and Biochemistry, UPEC, AP-HP Henri-Mondor Teaching Hospital, Inserm U955, IMRB, Creteil F-94000, France. FAU - Canoui-Poitrine, Florence AU - Canoui-Poitrine F AD - Department of Public Health, UPEC, EA 4393 CEpiA (Clinical Epidemiology And Ageing), DHU ATVB, AP-HP, Henri-Mondor Teaching Hospital, DHU ATVB, Creteil F-94000, France. FAU - Buxbaum, Joel N AU - Buxbaum JN AD - Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, CA, USA. LA - eng PT - Clinical Trial PT - Journal Article PT - Multicenter Study PT - Research Support, Non-U.S. Gov't DEP - 20151103 PL - England TA - Eur Heart J JT - European heart journal JID - 8006263 RN - 0 (Amyloid) RN - 0 (Prealbumin) RN - 0 (transthyretin-related amyloid fibril protein, human) RN - Amyloidosis, Hereditary, Transthyretin-Related SB - IM MH - Aged MH - Aged, 80 and over MH - Amyloid/genetics MH - Amyloid Neuropathies, Familial/epidemiology/genetics/*pathology MH - Cardiomyopathy, Hypertrophic/epidemiology/genetics/*pathology MH - Cross-Sectional Studies MH - Female MH - France/epidemiology MH - Heart Failure/epidemiology/genetics/pathology MH - Heart Ventricles/pathology MH - Humans MH - Male MH - Middle Aged MH - Mutation/genetics MH - Prealbumin/genetics MH - Prevalence MH - Prospective Studies OTO - NOTNLM OT - Cardiac amyloidosis OT - Hypertrophic cardiomyopathy OT - Transthyretin EDAT- 2015/11/06 06:00 MHDA- 2018/01/24 06:00 CRDT- 2015/11/06 06:00 PHST- 2015/07/31 00:00 [received] PHST- 2015/10/07 00:00 [accepted] PHST- 2015/11/06 06:00 [entrez] PHST- 2015/11/06 06:00 [pubmed] PHST- 2018/01/24 06:00 [medline] AID - ehv583 [pii] AID - 10.1093/eurheartj/ehv583 [doi] PST - ppublish SO - Eur Heart J. 2016 Jun 14;37(23):1826-34. doi: 10.1093/eurheartj/ehv583. Epub 2015 Nov 3.