Amyloid

The Journal of Protein Folding Disorders

ISSN: 1350-6129 (Print) 1744-2818 (Online) Journal homepage: https://www.tandfonline.com/loi/iamy20

Cardiac involvement after liver transplantation in

patients with Val30Met transthyretin amyloidosis
from Majorca focus

Tomas Ripoll-Vera, Jorge Alvarez, Juan Buades, Eugenia Cisneros, Yolanda

Gomez, Catalina Melia, Asunción Ferrer, Ines Losada, Juan Gonzalez,
Mercedes Uson & Antonio Figuerola

To cite this article: Tomas Ripoll-Vera, Jorge Alvarez, Juan Buades, Eugenia Cisneros,
Yolanda Gomez, Catalina Melia, Asunción Ferrer, Ines Losada, Juan Gonzalez, Mercedes
Uson & Antonio Figuerola (2019) Cardiac involvement after liver transplantation in patients
with Val30Met transthyretin amyloidosis from Majorca focus, Amyloid, 26:sup1, 18-19, DOI:
10.1080/13506129.2019.1582487

To link to this article: https://doi.org/10.1080/13506129.2019.1582487

Published online: 25 Jul 2019.

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AMYLOID
2019, VOL. 26, NO. S1, 18–19
https://doi.org/10.1080/13506129.2019.1582487

Cardiac involvement after liver transplantation in patients with Val30Met

transthyretin amyloidosis from Majorca focus
Tomas Ripoll-Veraa, Jorge Alvareza, Juan Buadesb, Eugenia Cisnerosb, Yolanda Gomeza, Catalina Meliaa,

n Ferrerc, Ines Losadab, Juan Gonzalezb, Mercedes Usond and Antonio Figuerolad
Asuncio
a
Department of Cardiology, Palma de Mallorca, Spain; bInternal Medicine, Palma de Mallorca, Spain; cNephrology, Palma de Mallorca, Spain;
d
Neurology, Son Llatzer University Hospital, Palma de Mallorca, Spain

Background Table 1. Clinical data of patients included in the study, pre and post-OLT.
n ¼ 54 Pre-OLT Post-OLT
Familial amyloid polyneuropathy (FAP) is an autosomal
Neuropathy worsening 37 (71%)
dominant disease caused by mutations in transthyretin Nephropathy 8 (15%) 18 (35%)
(TTR) gene. Over 100 TTR mutations have been described Cardiopathy (any) 14 (26.4%) 32 (61.5%)
to date in patients with TTR amyloidosis. Val30Met is the Arrhythmias 5 (9.4%) 20 (38.5%)
HF 1 (1.9%) 5 (9.6%)
most common variant in FAP [1,2]. Although rare world- AVB 5 (9.4%) 18 (35.3%)
wide, there are some endemic foci in Portugal, Brazil, Maximum wall thickness 10.08 ± 2.15mm 13.1 ± 4.75mm
Diastolic dysfunction 6 (13.3%) 16 (53.3%)
Sweden, Japan and Spain (the majority from Majorca- LVEF 61 ± 3.6% 59 ± 6.7%
Balearic Islands-, the fifth most important focus of the
world) [3]. The TTR Val30Met mutation presents classically
with peripheral sensory neuropathy and progresses to auto-
nomic and motor neuropathy, with occurrence of cardiac
Results
conduction abnormalities late in the disease progression [4]. The cohort comprised 132 FAP patients (69 males and 63
Orthotopic liver transplantation (OLT) is considered the females): 28 asymptomatic carriers (21.2%) and 104 symp-
best treatment. The abnormal TTR protein is synthesized in tomatic patients (78.8%). 54 (41%) had received an OLT.
95% in the liver, but also in retina and choroid plexus [5]. Thirty-two (60%) were men. The mean age was
Thus, it could be some worsening in spite of OLT. There 42.3 ± 12.6 years at diagnosis. The time to inclusion on the
are few published data about cardiac disease in post-OLT transplant waiting list was 29.56 months. During follow up
FAP patients. The aim of this study was to investigate the after OLT (14.4 years) several patients showed disease pro-
occurrence and development of heart symptoms, arrhyth- gression referred to neuropathy, nephropathy (more related
mias, conduction abnormalities and myocardial involvement to immunosuppression drugs) and cardiopathy (26.4% pre-
in Majorca TTR Val30Met FAP patients who under- OLT vs. 61.5% post-OLT), specially rhythm disturbances
went OLT. (9 vs. 38.5%), atrium-ventricular block (AVB) (9 vs. 35%),
heart failure (HF) (2 vs. 10%), increasing in left ventricular
hypertrophy (LVH) (10 vs. 13 mm) and diastolic dysfunction
(13 vs. 53%). Pacemaker was implanted in 31 patients
(58.5%), but 21 (39.6%) were prophylactic pre-OLT (an
ancient and controversial indication). A total of 14 patients
Material and methods
died (26.4%), the majority of the deaths (n ¼ 10) were FAP-
A retrospective, observational study was performed. Medical related. In some cases, a fatal arrhythmia was probably the
records from adults patients diagnosed with FAP carrying cause of death. Mortality correlated with neurological wor-
Val30Met mutation from a single hospital were reviewed, sening after OLT (p ¼ .025), nephropathy (p ¼ .008), any
selecting those patients who underwent OLT and comparing cardiac progression (p ¼ .04) and HF (p ¼ .014) after OLT.
cardiac involvement prior to OLT and after follow up. Data
were collected on patient demographics, clinical disease
Discussion and conclusions
manifestations, 12–channel ECG, echocardiography and 24 h
ECG recording, cardiac magnetic resonance imaging (cMRI) Our findings, based on a relatively large series, provide add-
and 99mTc-DPD scintigraphy, when available. itional information on FAP disease post-OLT. There is a

CONTACT Tomas Ripoll-Vera tripoll@hsll.es Department of Cardiology, Son Llatzer Hospital, Carretera Manacor, Km 4. 07198 – Palma de Mallorca, Islas
Baleares, Spain
ß 2019 Informa UK Limited, trading as Taylor & Francis Group
 AMYLOID 19

disease progression in FAP patients in spite of OLT, espe- References

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Disclosure statement
J Rare Dis. 2014;9:29.
No potential conflict of interest was reported by the authors. [4] Casta~
no A, Drachman BM, Judge D, et al. Diagnosis, prognosis,
and therapy of transthyretin amyloidosis. Heart Fail Rev. 2015;
20:163–178.
Funding [5] Gertz MA, Benson MD, Dyck PJ, et al. Diagnosis, prognosis,
and therapy of transthyretin amyloidosis. J Am Coll Cardiol.
This work was supported by Ciberobn. 2015;66:2451–2466.