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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Risk stratification in cardiac amyloidosis: novel approaches
Arnt V Kristen1, F Joachim Meyer, Jolanta B Perz
1Department of Cardiology, Angiology, and Respiratory Medicine, University Hospital Heidelberg, Heidelberg, Germany. Arnt_Kristen@med.uni-heidelberg.de
Insights
Cardiac amyloidosis, a serious complication of amyloidosis, shows poor prognosis. Novel markers like NT-proBNP may aid heart transplant selection for affected patients.
Area of Science:
- Cardiology
- Nephrology
- Hematology
Background:
- Amyloidosis involves extracellular beta-fibrillar protein deposition, often affecting the heart.
- Cardiac involvement in amyloidosis significantly worsens prognosis.
- Current diagnostic tools for risk stratification lack sufficient sensitivity and specificity.
Purpose of the Study:
- To evaluate diagnostic markers for cardiac amyloidosis.
- To assess the prognostic value of these markers.
- To explore potential therapeutic approaches like heart transplantation.
Main Methods:
- Study included 50 patients with light chain amyloidosis and 15 with hereditary amyloidosis.
- Diagnostic tests included ECG, echocardiography, Holter monitoring, exercise tests, lung function tests, and lab investigations.
- Cardiac amyloidosis was diagnosed in 32 patients.
Main Results:
- Patients with cardiac amyloidosis showed increased interventricular septum thickness, plasma NT-proBNP, and cardiac Troponin T compared to those without cardiac involvement.
- Maximal inspiratory (Pimax) and expiratory (Pemax) mouth pressures were decreased in cardiac amyloidosis patients.
- NT-proBNP correlated with interventricular septum thickness and respiratory pressures.
Conclusions:
- Cardiac amyloidosis has a poor prognosis and is not well-defined by traditional heart failure markers.
- NT-proBNP and other novel markers may improve risk stratification and patient selection for heart transplantation.
- Alternative criteria for patient selection and listing for heart transplantation are needed.
Abstract:
Amyloidosis is a term for diseases with extracellular deposition of insoluble beta-fibrillar proteins in different organs. The heart is primarily involved in more than half of patients with immunoglobulin light-chain amyloidosis or hereditary amyloidosis and associated with poor prognosis. Different traditional diagnostic tools that have been described for risk stratification lack of sufficient sensitivity and specificity for patient survival. Until November 2004 in 50 consecutive patients with light chain amyloidosis and 15 patients with hereditary amyloidosis electrocardiography, echocardiography, Holter monitoring, cardiopulmonary exercise test, lung function testing, tilt-test, and laboratory investigations have been performed at our department. Cardiac amyloidosis was found in 32 patients. Interventricular septum (14.3+/-0.5 mm vs. 12.3+/-0.7 mm, P<0.05), plasma NT-proBNP (7154+/-2122 ng/l vs. 380+/-113 ng/l; P<0.01), cardiac Troponin T (0.105+/-0.030 vs. 0.019+/-0.010 microg/l; P<0.05) were increased in patients with cardiac amyloidosis as compared to patients light chain amyloidosis but no cardiac involvement. Maximal inspiratory (Pimax) and expiratory (Pemax) mouth pressure were decreased with CA compared to controls. Correlation of NT-proBNP and interventricular septum thickness (r=0.53, P=0.029) as well as and Pimax (r=0.72, P<0.01) or Pemax (r=0.69; P<0.01) was noticed. A correlation of grade of arrhythmias in Holter monitoring and syncopes was not observed. Cardiac involvement of amyloid disease carries a poor prognosis and is not well characterized by classic heart failure determinants. Heart transplantation based on novel risk markers including NT-proBNP might be a suitable therapeutic approach for patients with manifest cardiac amyloidosis, but will require alternative patient selection and listing criteria.
