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Heart failure and cardiomyopathies
Original research
Standard ECG for differential diagnosis between Anderson-Fabry disease and hypertrophic cardiomyopathy
  1. Giovanni Vitale1,
  2. Raffaello Ditaranto1,
  3. Francesca Graziani2,
  4. Ilaria Tanini3,
  5. Antonia Camporeale4,
  6. Rosa Lillo2,
  7. Marta Rubino5,
  8. Elena Panaioli2,
  9. Federico Di Nicola1,
  10. Valentina Ferrara1,
  11. Rossana Zanoni1,
  12. Angelo Giuseppe Caponetti1,
  13. Ferdinando Pasquale1,
  14. Maddalena Graziosi1,
  15. Alessandra Berardini1,
  16. Matteo Ziacchi1,
  17. Mauro Biffi1,
  18. Marisa Santostefano6,
  19. Rocco Liguori7,8,
  20. Nevio Taglieri1,
  21. Elena Nardi1,
  22. Ales Linhart9,
  23. Iacopo Olivotto3,
  24. Claudio Rapezzi10,11,
  25. Elena Biagini1
  1. 1 Cardiology Unit, IRCCS, Department of Experimental, Diagnostic and Specialty Medicine, Sant’Orsola Hospital, University of Bologna, Bologna, Emilia-Romagna, Italy
  2. 2 Department of Cardiovascular and Thoracic Sciences, Fondazione Policlinico Universitario A. Gemelli IRCSS, Roma, Lazio, Italy
  3. 3 Cardiomyopathy Unit, Careggi University Hospital, Firenze, Toscana, Italy
  4. 4 Multimodality Cardiac Imaging Section, IRCCS Policlinico San Donato, San Donato Milanese, Milano, Lombardia, Italy
  5. 5 Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Monaldi Hospital, Napoli, Campania, Italy
  6. 6 Division of Nephrology, Azienda Ospedaliero Universitaria - Policlinico di St. Orsola, Bologna, Emilia-Romagna, Italy
  7. 7 Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Emilia-Romagna, Italy
  8. 8 IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Emilia-Romagna, Italy
  9. 9 2nd Department of Medicine-Department of Cardiovascular Medicine, First Faculty of Medicine, Charles University and General University Hospital, Praha, Czech Republic
  10. 10 Cardiovascular Center, University of Ferrara, Azienda Ospedaliero Universitaria di Ferrara Ospedale Sant'Anna, Cona, Emilia-Romagna, Italy
  11. 11 Maria Cecilia Hospital, GVM Care & Research, Cotignola, Ravenna, Emilia-Romagna, Italy
  1. Correspondence to Dr Elena Biagini, Cardiology Unit, IRCCS, Department of Experimental, Diagnostic and Specialty Medicine, Sant’Orsola Hospital, University of Bologna, 40125 Bologna, Emilia-Romagna, Italy; elena.biagini73{at}gmail.com

Abstract

Objectives To evaluate the role of the ECG in the differential diagnosis between Anderson-Fabry disease (AFD) and hypertrophic cardiomyopathy (HCM).

Methods In this multicentre retrospective study, 111 AFD patients with left ventricular hypertrophy were compared with 111 patients with HCM, matched for sex, age and maximal wall thickness by propensity score. Independent ECG predictors of AFD were identified by multivariate analysis, and a multiparametric ECG score-based algorithm for differential diagnosis was developed.

Results Short PR interval, prolonged QRS duration, right bundle branch block (RBBB), R in augmented vector left (aVL) ≥1.1 mV and inferior ST depression independently predicted AFD diagnosis. A point-by-point ECG score was then derived with the following diagnostic performances: c-statistic 0.80 (95% CI 0.74 to 0.86) for discrimination, the Hosmel-Lemeshow χ2 6.14 (p=0.189) for calibration, sensitivity 69%, specificity 84%, positive predictive value 82% and negative predictive value 72%. After bootstrap resampling, the mean optimism was 0.025, and the internal validated c-statistic for the score was 0.78.

Conclusions Standard ECG can help to differentiate AFD from HCM while investigating unexplained left ventricular hypertrophy. Short PR interval, prolonged QRS duration, RBBB, R in aVL ≥1.1 mV and inferior ST depression independently predicted AFD. Their systematic evaluation and the integration in a multiparametric ECG score can support AFD diagnosis.

  • cardiomyopathy
  • hypertrophic
  • electrocardiography
  • metabolic diseases
  • genetic diseases
  • inborn

Data availability statement

All data relevant to the study are included in the article or uploaded as supplementary material. The authors from each center guarantee the integrity of data from their institution. All provided data included in the article cannot be traced back to individuals that participated in the study.

https://doi.org/10.1136/heartjnl-2020-318271

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    Data availability statement

    All data relevant to the study are included in the article or uploaded as supplementary material. The authors from each center guarantee the integrity of data from their institution. All provided data included in the article cannot be traced back to individuals that participated in the study.

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    Footnotes

    • Twitter @RosaLillo14, @elena.biagini73@gmail.com

    • GV and RD contributed equally.

    • Contributors GV and RD contributed equally to this work. Study design: EB and NT. Collection of data: GV and FDN. Data analysis: GV, RD, FDN, NT and EB. Statistical analysis: GV, RD, NT and EN. Drafting of the manuscript: GV, RD, NT and EB. Critical revision for important intellectual content: IO, AL and CR. Revision, editing and approval of the final manuscript: all authors.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.