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Updated: Jul 9, 2025
Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
[Clinical differences between transthyretin cardiac amyloidosis and hypertensive heart disease]
Ignacio Gallo-Fernández1, José López-Aguilera1, Rafael González-Manzanares1
1Unidad de Insuficiencia Cardiaca, Servicio de Cardiología, Hospital Universitario Reina Sofía, Córdoba, España; Instituto de Investigación Biomédica de Córdoba, IMIBIC, Córdoba, España.
Insights
Cardiac transthyretin amyloidosis (TTRA) and hypertensive heart disease (HHD) share symptoms. TTRA patients showed distinct clinical, ECG, and echo findings, with a higher need for pacemakers but similar mortality.
Area of Science:
- Cardiology
- Cardiovascular Imaging
- Electrophysiology
Background:
- Cardiac transthyretin amyloidosis (TTRA) is often misdiagnosed as hypertensive heart disease (HHD) due to similar presentations of heart failure with preserved ejection fraction and ventricular hypertrophy.
- Distinguishing between TTRA and HHD is crucial for appropriate management and prognosis.
Purpose of the Study:
- To identify clinical, electrocardiographic, and echocardiographic differences between TTRA and HHD.
- To analyze the differential prognosis between TTRA and HHD.
Main Methods:
- Retrospective analysis of 72 patients screened for TTRA between 2016-2021.
- Inclusion of patients with hypertensive heart disease (HHD) undergoing technetium-99m diphosphonate scintigraphy and free light chain testing.
- Exclusion of patients with other forms of amyloidosis.
Main Results:
- TTRA patients (n=33) exhibited higher ultrasensitive troponin I and NT-proBNP levels compared to HHD patients (n=39).
- Distinct ECG findings (pseudo-infarction, conduction disturbances) and echocardiographic features (hypertrophy, dysfunction, elevated filling pressures) were noted in TTRA.
- Over 4-year follow-up, TTRA patients had a greater need for pacemakers, but no significant differences in mortality, atrial fibrillation, or heart failure admissions were observed.
Conclusions:
- Cardiac transthyretin amyloidosis presents with identifiable clinical, ECG, and echocardiographic differences compared to hypertensive heart disease.
- Patients with TTRA face an increased risk of requiring pacemaker implantation.
Introduction:
A significant percentage of patients eventually diagnosed with cardiac transthyretin amyloidosis (TTRA) was previously diagnosed with hypertensive heart disease (HHD), since both conditions usually present with heart failure (HF) with preserved ejection fraction (HFpEF) and ventricular hypertrophy. Our objectives were to evaluate the clinical, electrocardiographic and echocardiographic differences, and to analyse whether there exists a differential prognosis between these two nosological entities.
Materials And Methods:
We retrospectively included all patients with HHD for whom a cardiac scintigraphy with 99mTc-diphosphonate (GDPD) and a free light chains test in blood and urine were ordered for ATTR screening in our centre, in the period between 2016 and 2021. Those diagnosed with other types of amyloidosis were excluded from the analysis.
Results:
A total of 72 patients were analyzed: 33 were finally diagnosed with TTRA and 39 with CHTA. Patients with TTRA had higher levels of ultrasensitive troponin I (TnI-US) and N-terminal brain natriuretic propeptide (NT-ProBNP); in electrocardiography (ECG) they presented a pseudo-infarction pattern more frequently as well as conduction disturbances; in echocardiography (TTE) they presented a higher degree of ventricular hypertrophy, left ventricular dysfunction and worse diastolic function parameters, with elevated filling pressures. In the 4-year follow-up, the ATTR group showed greater need for pacemaker (PCM), with no evidence regarding mortality, development of atrial fibrillation (AF), or more admissions for heart failure (HF).
Conclusions:
In our series, patients with TTRA showed clinical, electrocardiographic and echocardiographic differences compared to patients with HHD, with increased risk of need for PCM.
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