Prevalence of cardiac amyloidosis among adult patients referred to tertiary centres with an initial diagnosis of hypertrophic cardiomyopathy: International Journal of Cardiology

N. Maurizi, V. Rella, C. Fumagalli, S. Salerno, S. Castelletti, F. Dagradi, M. Torchio, A. Marceca, M. Meda, M. Gasparini, B. Boschi, F. Girolami, G. Parati, I. Olivotto, L. Crotti, F. Cecchi

Research output: Contribution to journalArticlepeer-review

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. © 2019 Elsevier B.V.
Original languageEnglish
Pages (from-to)191-195
Number of pages5
JournalInt. J. Cardiol.
Volume300
DOIs
Publication statusPublished - 2020

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

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