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Usefulness of Genetic Testing in Hypertrophic Cardiomyopathy: an Analysis Using Real-World Data

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A Correction to this article was published on 15 July 2019

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Abstract

This study sought to determine the usefulness of genetic testing to predict evolution in hypertrophic cardiomyopathy (HCM) and to assess the role of genetic testing in clinical practice. Genetic results of 100 HCM patients tested for mutations in ≥10 HCM-causing genes were evaluated. Patients were classified as with poor (group A) or favourable (group B) clinical course. Forty-five pathogenic mutations (PM) were identified in 28 patients (56 %) from group A and in 23 (46 %) from group B (p = 0.317). Only 40 patients (40 %) exhibited PM that had been previously reported and only 15 (15 %) had PM reported in ≥10 individuals. PM associated with poor prognosis were identified in just five patients from group A (10 %). Genetic findings are not useful to predict prognosis in most HCM patients. By contrast, real-world data reinforce the usefulness of genetic testing to provide genetic counselling and to enable cascade genetic screening.

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Change history

  • 15 July 2019

    The name of author M. Alejandra Restrepo-Cordoba was parsed incorrectly (in such a way as to suggest that her surname is ���Alejandra Restrepo-Cordoba���) in this article as published.

  • 15 July 2019

    The name of author M. Alejandra Restrepo-Cordoba was parsed incorrectly (in such a way as to suggest that her surname is ���Alejandra Restrepo-Cordoba���) in this article as published.

Abbreviations

HCM:

Hypertrophic cardiomyopathy

HT:

Heart transplant

ICD:

Implantable cardioverter defibrillator

NGS:

Next-generation sequencing

PM:

Pathogenic mutation

SCD:

Sudden cardiac death

VUS:

Variant of uncertain significance

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Author information

Authors and Affiliations

  1. Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Manuel de Falla 2, Majadahonda, 28222, Madrid, Spain

    M. Alejandra Restrepo-Cordoba, Marta Cobo-Marcos, Fernando Dominguez, Esther Gonzalez-Lopez, Laura Padron-Barthe, Luis Alonso-Pulpon & Pablo Garcia-Pavia

  2. Cardiovascular Genetics Centre, Institut d’Investigació Biomèdica de Girona (IDIBGi), Girona, Spain

    Oscar Campuzano, Irene Mademont-Soler & Ramon Brugada

  3. Department of Medical Science, Medical School, Universitat de Girona (UdG), Girona, Spain

    Oscar Campuzano & Ramon Brugada

  4. Centro de Investigacion Biomedica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain

    Oscar Campuzano, Marta Cobo-Marcos, Irene Mademont-Soler, Fernando Dominguez, Esther Gonzalez-Lopez, Laura Padron-Barthe, Enrique Lara-Pezzi, Luis Alonso-Pulpon, Ramon Brugada & Pablo Garcia-Pavia

  5. Department of Cardiology, Hospital Son Llatzer & IdISPa, Mallorca, Spain

    Tomás Ripoll-Vera, José M Gámez & Esther Gonzalez-Lopez

  6. Myocardial Biology Programme, Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain

    Fernando Dominguez, Laura Padron-Barthe, Enrique Lara-Pezzi & Pablo Garcia-Pavia

  7. Department of Cardiology, Hospital Josep Trueta, Girona, Spain

    Ramon Brugada

  8. Francisco de Vitoria University, Madrid, Spain

    Pablo Garcia-Pavia

Authors
  1. M. Alejandra Restrepo-Cordoba
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  2. Oscar Campuzano
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  3. Tomás Ripoll-Vera
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  4. Marta Cobo-Marcos
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  5. Irene Mademont-Soler
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  6. José M Gámez
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  7. Fernando Dominguez
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  8. Esther Gonzalez-Lopez
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  9. Laura Padron-Barthe
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  10. Enrique Lara-Pezzi
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  11. Luis Alonso-Pulpon
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  12. Ramon Brugada
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  13. Pablo Garcia-Pavia
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Corresponding author

Correspondence to Pablo Garcia-Pavia.

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Funding

This work was supported in part by an unrestricted grant from Ferrer in Code SL and by the Instituto de Salud Carlos III [grants RD012/0042/0059, RD012/0042/0066 and RD12/0042/0069] through the Plan Estatal de I+D+I 2013–2016—European Regional Development Fund (FEDER) “A way of making Europe”. The funders had no role in study design, data collection and analysis, decision to publish or preparation of the manuscript.

Disclosures

RB reports consulting fees from Ferrer in Code. The other authors have no conflicts of interest to declare.

Additional information

Associate Editor Paul J. R. Barton oversaw the review of this article.

Clinical relevance of the manuscript

Hypertrophic cardiomyopathy (HCM) is a heterogeneous disease with a broad clinical spectrum related to its diverse genetic profile. Although genetic findings are not currently recommended to predict prognosis, very few studies have analysed this issue and controversy remains about the usefulness of genetic testing to predict disease progression. The current study provides comprehensive data to support the view that genetic findings are not useful to predict prognosis in HCM patients. Our results indicate that it is not appropriate to perform genetic testing in HCM patients to predict patients’ and relatives’ clinical course. By contrast, real-world data obtained in this study reinforces the usefulness of genetic testing to provide genetic counselling and to enable familial evaluation.

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Alejandra Restrepo-Cordoba, M., Campuzano, O., Ripoll-Vera, T. et al. Usefulness of Genetic Testing in Hypertrophic Cardiomyopathy: an Analysis Using Real-World Data. J. of Cardiovasc. Trans. Res. 10, 35–46 (2017). https://doi.org/10.1007/s12265-017-9730-8

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