@article{efe6ae8c09bc4883a05953316b4af746,
title = "Prevalence of cardiac amyloidosis among adult patients referred to tertiary centres with an initial diagnosis of hypertrophic cardiomyopathy: International Journal of Cardiology",
abstract = "Background: Differential diagnosis of genetic causes of left ventricular hypertrophy (LVH) is crucial for disease-specific therapy. We aim to describe the prevalence of Cardiac Amyloidosis (CA) among patients ≥40 years with an initial diagnosis of HCM referred for second opinion to national cardiomyopathy centres. Methods: Consecutive patients aged ≥40 years referred with a tentative HCM diagnosis in the period 2014–2017 underwent clinical evaluation and genetic testing for HCM (including trans-thyretin-TTR). Patients with at least one red flag for CA underwent blood/urine tests, abdominal fat biopsy and/or bone-scintigraphy tracing and eventually ApoAI sequencing. Results: Out of 343 patients (age 60 ± 13 years), 251 (73%) carried a likely/pathogenic gene variant, including 12 (3.5%) in the CA-associated genes TTR (n = 11) and ApoAI (n = 1). Furthermore, 6 (2%) patients had a mutation in GLA. Among the remaining, mutation-negative patients, 26 with ≥1 CA red-flag were investigated further: 3 AL-CA and 17 wild-type-TTR-CA were identified. Ultimately, 32(9%) patients were diagnosed with CA. Prevalence of CA increased with age: 1/75 (1%) at age 40–49, 2/86 (2%) at age 50–59, 8/84 (9%) at age 60–69, 13/61 (21%) at age 70–79, 8/31 (26%) at age ≥80 (p for trend 80 years). Age at diagnosis should be considered one of the most relevant red flags for CA in patients with HCM phenotypes; however, there is no clear age cut-off mandating scintigraphy and other second level investigations in the absence of other features suggestive of CA. {\textcopyright} 2019 Elsevier B.V.",
keywords = "apolipoprotein A1, osteocalcin, transthyretin, abdominal fat, adult, aged, ApoAI gene, Article, biopsy, blood analysis, bone scintiscanning, clinical evaluation, cohort analysis, controlled study, female, gene mutation, gene sequence, genetic screening, genetic variability, GLA gene, groups by age, heart amyloidosis, human, human tissue, hypertrophic cardiomyopathy, major clinical study, male, pathogenicity, patient referral, prevalence, priority journal, tertiary care center, trend study, TTR gene, urinalysis, amyloidosis, diagnostic imaging, differential diagnosis, middle aged, Adult, Aged, Amyloidosis, Cardiomyopathy, Hypertrophic, Cohort Studies, Diagnosis, Differential, Female, Humans, Male, Middle Aged, Prevalence, Referral and Consultation, Tertiary Care Centers",
author = "N. Maurizi and V. Rella and C. Fumagalli and S. Salerno and S. Castelletti and F. Dagradi and M. Torchio and A. Marceca and M. Meda and M. Gasparini and B. Boschi and F. Girolami and G. Parati and I. Olivotto and L. Crotti and F. Cecchi",
note = "Cited By :7 Export Date: 5 March 2021 CODEN: IJCDD Correspondence Address: Maurizi, N.; Cardiomyopathy Unit, Viale Pieraccini 17, Italy; email: niccolo.maurizi@gmail.com Chemicals/CAS: osteocalcin, 136461-80-8 References: Rapezzi, C., Lorenzini, M., Longhi, S., Milandri, A., Gagliardi, C., Bartolomei, I., Salvi, F., Maurer, M.S., Cardiac amyloidosis: the great pretender (2015) Heart Fail. Rev., 20 (2), pp. 117-124; Gillmore, J.D., Maurer, M.S., Falk, R.H., Nonbiopsy diagnosis of cardiac transthyretin amyloidosis (2016) Circulation, 133, pp. 2404-2412; Castano, A., Haq, M., Narotsky, D.L., Multicenter study of planar technetium 99m pyrophosphate cardiac imaging: predicting survival for patients with ATTR cardiac amyloidosis (2016) JAMA Cardiol., 1, pp. 880-889; Gonzalez-Lopez, E., Gallego-Delgado, M., Guzzo-Merello, G., Wild-type transthyretin amyloidosis as a cause of heart failure with preserved ejection fraction (2015) Eur. Heart J., 36, pp. 2585-2594; Damy, T., Costes, B., Hag{\`e}ge, A.A., Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness (2016) Eur. Heart J., 37, pp. 1826-1834; Maurer, M.S., Schwartz, J.H., Gundapaneni, B., Elliott, P.M., Merlini, G., Waddington-Cruz, M., Kristen, A.V., Drachman, B.M., Tafamidis treatment for patients with transthyretin amyloid cardiomyopathy (2018) N. Engl. J. Med., 379 (11), pp. 1007-1016; Elliott, P.M., Anastasakis, A., Borger, M.A., 2014 ESC guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC) (2014) Eur. Heart J., 35, pp. 2733-2779; Rapezzi, C., Merlini, G., Quarta, C.C., Riva, L., Longhi, S., Leone, O., Salvi, F., Coccolo, F., Systemic cardiac amyloidoses: disease profiles and clinical courses of the 3 main types (2009) Circulation, 120 (13), pp. 1203-1212; Mazzarotto, F., Girolami, F., Boschi, B., Barlocco, F., Tomberli, A., Baldini, K., Coppini, R., Two decades of genetic testing in hypertrophic cardiomyopathy in a single center: the additive value of extended next-generation sequencing panels lies in the early diagnosis of metabolic mimics (2018) Vasc. Pharmacol., 103, p. 63; Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W.W., Rehm, H.L., Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (2015) Genet. Med., 17, pp. 405-423; Rapezzi, C., Quarta, C.C., Guidalotti, P.L., Pettinato, C., Fanti, S., Leone, O., Ferlini, A., Gagliardi, C., Role of 99mTc-DPD scintigraphy in diagnosis and prognosis of hereditary transthyretin-related cardiac amyloidosis (2011) JACC Cardiovasc. Imaging, 4 (6), pp. 659-670; Rapezzi, C., Arbustini, E., Caforio, A.L., Charron, P., Gimeno-Blanes, J., Heli{\"o}, T., Linhart, A., Seggewiss, H., Diagnostic work-up in cardiomyopathies: bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on Myocardial and Pericardial Diseases (2012) Eur. Heart J., 34 (19), pp. 1448-1458; Rapezzi, C., Perugini, E., Salvi, F., Grigioni, F., Riva, L., Cooke, R.M., Ferlini, A., Pastorelli, F., Phenotypic and genotypic heterogeneity in transthyretin-related cardiac amyloidosis: towards tailoring of therapeutic strategies? (2006) Amyloid, 13 (3), pp. 143-153; Limongelli, G., Masarone, D., Verrengia, M., Gravino, R., Salerno, G., Castelletti, S., Rubino, M., Elliott, P.M., Diagnostic clues for the diagnosis of nonsarcomeric hypertrophic cardiomyopathy (Phenocopies): amyloidosis, fabry disease, and mitochondrial disease (2018) Journal of cardiovascular echography., 28 (2), p. 120; Gonz{\'a}lez-L{\'o}pez, E., Gagliardi, C., Dominguez, F., Quarta, C.C., de Haro-del Moral, F.J., Milandri, A., Salas, C., Lara-Pezzi, E., Clinical characteristics of wild-type transthyretin cardiac amyloidosis: disproving myths (2017) Eur. Heart J., 38 (24), pp. 1895-1904; Mussinelli, R., Salinaro, F., Alogna, A., Boldrini, M., Raimondi, A., Musca, F., Perlini, S., Diagnostic and prognostic value of low QRS voltages in cardiac AL amyloidosis (2013) Ann. Noninvasive Electrocardiol., 18 (3), pp. 271-280; Karamitsos, T.D., Piechnik, S.K., Banypersad, S.M., Fontana, M., Ntusi, N.B., Ferreira, V.M., Neubauer, S., Noncontrast T1 mapping for the diagnosis of cardiac amyloidosis (2013) JACC Cardiovasc. Imaging, 6 (4), pp. 488-497",
year = "2020",
doi = "10.1016/j.ijcard.2019.07.051",
language = "English",
volume = "300",
pages = "191--195",
journal = "Int. J. Cardiol.",
issn = "0167-5273",
publisher = "Elsevier Ireland Ltd",
}