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Clinical features, etiology, and survival in patients with restrictive cardiomyopathy: A single-center experience

Justyna A Szczygieł1, Piotr Michałek2, Grażyna Truszkowska3

  • 1Department of Cardiomyopathy, National Institute of Cardiology, Warszawa, Poland. j.szczygiel@ikard.pl.

Kardiologia Polska
|November 8, 2023
PubMed

Insights

Genetic testing is crucial for restrictive cardiomyopathy (RCM) patients without light-chain amyloidosis. Biomarkers like GDF-15, hs-TNT, NT-proBNP, and pericardial effusion predict poor survival in RCM.

Area of Science:

  • Cardiology
  • Genetics
  • Cardiovascular Research

Background:

  • Restrictive cardiomyopathy (RCM) knowledge is limited, unlike cardiac amyloidosis (CA).
  • Prognostic factors for RCM require further elucidation.

Purpose of the Study:

  • To determine the etiology and prognostic factors of RCM.
  • To evaluate cardiac biomarkers (hs-TnT, GDF-15, NT-proBNP, sST2) as mortality predictors in RCM.
  • To assess the role of genetic testing in RCM diagnosis.

Main Methods:

  • Enrolled 36 RCM patients from a tertiary cardiac department.
  • Screened all patients for CA and performed genetic testing on 17 non-CA patients.
  • Utilized univariate Cox models, Kaplan-Meier analysis, and log-rank tests for survival analysis.

Main Results:

  • Identified pathogenic/likely pathogenic gene variants in 86% of tested RCM patients, including 5 novel variants.
  • Median overall survival was 29 months, with 20 deaths and 4 heart transplantations.
  • GDF-15, hs-TnT, NT-proBNP, blood pressure, left ventricular stroke volume, E/e' ratio, TAPSE, early diastolic tricuspid annular velocity, pulmonary hypertension, and pericardial effusion significantly impacted survival.

Conclusions:

  • Genetic testing is recommended for RCM patients post-light-chain amyloidosis exclusion.
  • Survival remains poor for RCM patients irrespective of etiology.
  • Elevated GDF-15, hs-TNT, NT-proBNP, and presence of pericardial effusion indicate a worse prognosis.
Abstract

Keywords:
genetic testinggrowth differentiation factor-15light-chain amyloidosisrestrictive cardiomyopathysoluble suppression of tumorigenicity 2

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