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

International Journal of Cardiology
Niccolò MauriziFranco Cecchi

Abstract

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. 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. 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 ...Continue Reading

Citations

Feb 8, 2021·JACC. Heart Failure·Silvia OghinaDiane Bodez
Feb 25, 2021·European Journal of Preventive Cardiology·Daniele PasqualucciAndrea Mortara
Apr 2, 2021·World Journal of Cardiology·Selina J HeinMathias Konstandin
Jun 6, 2021·ESC Heart Failure·Robert Daniel AdamRuxandra Jurcuţ
Jul 13, 2021·Journal of Cardiovascular Magnetic Resonance : Official Journal of the Society for Cardiovascular Magnetic Resonance·Sorin GiuscaGrigorios Korosoglou
Aug 7, 2021·Mayo Clinic Proceedings·Carlo FumagalliFrancesco Cappelli
Oct 26, 2021·Heart Failure Reviews·Farhan BajwaKarthikeyan Ananthasubramaniam
Dec 9, 2021·ESC Heart Failure·Douglas KyrouacJoshua D Mitchell

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