Clinical characteristics of wild-type transthyretin cardiac amyloidosis: disproving myths

González-López, Esther; Gagliardi, Christian; Domínguez, Fernándo; Quarta, Candida Cristina; Moral, F. Javier de Haro-del; Milandri, Agnese; Salas, Clara; Cinelli, Mario; Cobo‐Marcos, Marta; Lorenzini, Massimiliano; Lara‐Pezzi, Enrique; Foffi, Serena; Alonso‐Pulpón, Luis; Rapezzi, Claudio; García‐Pavía, Pablo

doi:10.1093/eurheartj/ehx043

Cited by 281 publications

(306 citation statements)

References 35 publications

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“…Similar findings, with septal‐to‐posterior wall ratio <1.3, have been reported later by Borer et al In Fabry disease, Linhart et al have shown in the seminal work that concentric LV pattern (either remodeling or hypertrophy) is predominant in FC. Recently, asymmetric septal hypertrophy has been observed in 25% of the patients with wild‐type transthyretin cardiac amyloidosis . Compared to the wild‐type transthyretin amyloid deposition, in our dataset of AL cardiac amyloidosis individuals we have observed a slightly lower percentage (15%); nevertheless, our data show that asymmetric septal hypertrophy can also be present in a minority of AL patients.…”

Section: Discussioncontrasting

confidence: 60%

Comparison of echocardiographic parameters in Fabry cardiomyopathy and light‐chain cardiac amyloidosis

et al. 2018

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Background Fabry cardiomyopathy (FC) and light‐chain amyloid cardiomyopathy (AL) present with concentric left ventricular (LV) hypertrophy/remodeling and diastolic rather than systolic dysfunction. Direct comparisons are difficult due to rarity and confounded by variability of LV thickness. Aims To compare LV diastolic and systolic properties between patients with FC and AL in a cohort matched for interventricular septal thickness (IVS). Methods A two‐center echocardiographic analysis was performed, comprising 118 patients with IVS ≥12 mm (FC and AL 59 patients each) matched by IVS. Results Fabry cardiomyopathy patients had larger LV end‐diastolic diameter (47.7 [44.0–50.9] vs 45.0 [41.5–49.0] mm, P = 0.002), better LV ejection fraction (EF 68.7 [63.4–74.0] vs 63.0 [54.0–70.0]%, P = 0.001) and midwall fractional shortening (midFS 14.8 [13.0–16.1] vs 12.1 [8.9–15.0]%, P = 0.006). LV EF <40% was rare in both (2% vs 7%, P = 0.17). AL patients expressed higher LV diastolic dysfunction grade (III in 26% vs 4%, II in 21% vs 12% and I in 54% vs 84%, P = 0.004), with higher E/e’ ratio (13.6 [10.2–18.8] vs 9.8 [7.5–12.3], P < 0.0001). Average E/e’ ratio and midFS were significantly associated with NYHA severity in both groups (P < 0.05 for all). Conclusions Matched AL patients had worse LV diastolic function than FC, driven by E/e’. Significant LV systolic dysfunction was rare overall. MidFS and E/e’ were associated with heart failure severity in both groups.

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Section: Discussioncontrasting

confidence: 60%

Comparison of echocardiographic parameters in Fabry cardiomyopathy and light‐chain cardiac amyloidosis

et al. 2018

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“…Conduction abnormalities on ECG are also extremely common in cardiac amyloidosis given the infiltrative nature of the disease, though they are not specific and occur commonly with advancing age. Atrial arrhythmias, including atrial flutter and atrial fibrillation, are highly prevalent in ATTRwt cardiac amyloidosis, having a lifetime risk of 90% among patients with ATTRwt cardiac amyloidosis . Heart block and bundle branch block are also very common ECG finding in ATTRwt cardiac amyloidosis and ~30% of subjects require permanent pacing over time.…”

Section: Diagnosismentioning

confidence: 99%

“…Atrial arrhythmias, including atrial flutter and atrial fibrillation, are highly prevalent in ATTRwt cardiac amyloidosis, having a lifetime risk of 90% among patients with ATTRwt cardiac amyloidosis. 28 Heart block and bundle branch block are also very common ECG finding in ATTRwt cardiac amyloidosis and~30% of subjects require permanent pacing over time. A recent study of older patients with conduction disease or HF requiring pacemaker implantation screened patients for ATTR cardiac amyloidosis using nuclear scintigrahy.…”

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confidence: 99%

The quintessential form of diastolic heart failure in older adults: Wild type transthyretin cardiac amyloidosis

Driggin

Maurer

2019

Clinical Cardiology

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Wild‐type transthyretin cardiac amyloidosis (ATTRwt) is now recognized as a common cause of heart failure with preserved ejection fraction (HFpEF). In this review, we aim to describe the unique epidemiologic, pathophysiologic, and clinical features associated with ATTwt cardiac amyloidosis. Compared to other etiologies of HFpEF, ATTRwt cardiac amyloidosis affects almost exclusively older adults, demonstrating a characteristic age‐dependent penetrance that impacts both the diagnosis and treatment of the disease. In addition, ATTR cardiac amyloidosis demonstrates a unique pathophysiology in contrast to other etiologies of HFpEF, which results in a characteristic phenotype that can raise suspicion for ATTRwt cardiac amyloid in the appropriate demographic. With these distinguishing features in mind, we aim to describe the specific signs, symptoms, and imaging characteristics associated with ATTRwt cardiac amyloidosis, including the role of nuclear scintigraphy that has essentially eliminated the need for biopsy in most patients with suspected disease. Finally, we review the evidence behind the available therapeutic agents, as well as those under investigation, which will change the way we manage older patients with ATTRwt cardiac amyloidosis in the coming years.

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“…The association between CTS and systemic amyloidosis has been widely described and the main case series report a high prevalence of CTS in ATTR, ranging from 15% to 60% . Indeed, TTR‐related amyloid deposition has been documented in the transverse carpal ligament of subjects undergoing surgical intervention (with or without associated cardiac involvement) .…”

Section: Introductionmentioning

confidence: 99%

Carpal tunnel syndrome in cardiac amyloidosis: implications for early diagnosis and prognostic role across the spectrum of aetiologies

Milandri

Farioli

Gagliardi

et al. 2020

European J of Heart Fail

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117

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Aims We aimed to assess carpal tunnel syndrome (CTS) prevalence in transthyretin (TTR)‐related and light‐chain amyloidosis (AL), comparing it to the general population, adjusted for age and gender. In TTR‐related amyloidosis (ATTR) we investigated (i) CTS prevalence in relation to genotype, cardiac amyloidosis (CA), age and gender; (ii) CTS role as an incremental risk factor for CA; (iii) temporal relationship between CTS and CA; and (iv) CTS prognostic role. Methods and results Data from 538 subjects (166 hereditary ATTR, 107 wild‐type ATTR, 196 AL amyloidosis, and 69 TTR mutation carriers; 64% male, median age 62.4 years), evaluated at our centre (Bologna, Italy), were analysed and compared to a published cohort of 14.9 million people, in which incidence rates of CTS had been estimated. CTS prevalence was highest in ATTR patients with CA (20.3% vs. 4.1% in the general population), while it was comparable to the general population when CA was absent and in AL patients. CTS standardized incidence rates were markedly elevated in ATTR males in the eighth decade of life (13.08 in hereditary ATTR, 15.5 in wild‐type ATTR). The risk of developing CA was greater in ATTR patients with CTS; the probability of having CTS was highest 5–9 years prior to CA diagnosis. CTS was an independent mortality risk factor in ATTR. Conclusions Compared to general population the adjusted prevalence of CTS is higher among elderly men with ATTR; CTS is a prognostic marker in ATTR, independently of cardiac involvement, and precedes CA diagnosis by 5–9 years. The awareness of this association and time delay offers the possibility of an early pre‐clinical ATTR‐CA diagnosis.

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Clinical characteristics of wild-type transthyretin cardiac amyloidosis: disproving myths

Cited by 281 publications

References 35 publications

Comparison of echocardiographic parameters in Fabry cardiomyopathy and light‐chain cardiac amyloidosis

Comparison of echocardiographic parameters in Fabry cardiomyopathy and light‐chain cardiac amyloidosis

The quintessential form of diastolic heart failure in older adults: Wild type transthyretin cardiac amyloidosis

Carpal tunnel syndrome in cardiac amyloidosis: implications for early diagnosis and prognostic role across the spectrum of aetiologies

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