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Standard ECG for differential diagnosis between Anderson-Fabry disease and hypertrophic cardiomyopathy

Giovanni Vitale1, Raffaello Ditaranto1, Francesca Graziani2

  • 1Cardiology Unit, IRCCS, Department of Experimental, Diagnostic and Specialty Medicine, Sant'Orsola Hospital, University of Bologna, Bologna, Emilia-Romagna, Italy.

Heart (British Cardiac Society)
|February 10, 2021
PubMed

Insights

Electrocardiogram (ECG) findings like short PR interval and prolonged QRS duration can help differentiate Anderson-Fabry disease (AFD) from hypertrophic cardiomyopathy (HCM). A multiparametric ECG score aids in diagnosing AFD in patients with unexplained left ventricular hypertrophy.

Area of Science:

  • Cardiology
  • Genetics
  • Diagnostic Imaging

Background:

  • Anderson-Fabry disease (AFD) and hypertrophic cardiomyopathy (HCM) can present with similar left ventricular hypertrophy (LVH).
  • Differentiating AFD from HCM is crucial for appropriate management and treatment.
  • The role of standard electrocardiogram (ECG) in this differential diagnosis requires further elucidation.

Purpose of the Study:

  • To evaluate the diagnostic utility of ECG in distinguishing between AFD and HCM.
  • To identify independent ECG predictors for Anderson-Fabry disease.
  • To develop a multiparametric ECG score for differential diagnosis.

Main Methods:

  • A multicentre retrospective study comparing 111 AFD patients with 111 HCM patients matched for sex, age, and maximal wall thickness.
  • Propensity score matching was employed for patient selection.
  • Multivariate analysis identified independent ECG predictors of AFD, leading to the development of a diagnostic score.

Main Results:

  • Short PR interval, prolonged QRS duration, right bundle branch block (RBBB), R in aVL ≥1.1 mV, and inferior ST depression were independent predictors of AFD.
  • The developed multiparametric ECG score demonstrated a c-statistic of 0.80 for discrimination and good calibration (p=0.189).
  • The score achieved a sensitivity of 69%, specificity of 84%, PPV of 82%, and NPV of 72%, with internal validation yielding a c-statistic of 0.78.

Conclusions:

  • Standard ECG findings can effectively differentiate AFD from HCM in patients with unexplained LVH.
  • Key ECG predictors include short PR interval, prolonged QRS duration, RBBB, R in aVL ≥1.1 mV, and inferior ST depression.
  • A systematic evaluation and integration of these ECG parameters into a multiparametric score can significantly support the diagnosis of AFD.
Abstract

Keywords:
cardiomyopathyelectrocardiographygenetic diseaseshypertrophicinbornmetabolic diseases

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