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

doi:10.1007/s12265-017-9730-8

Review

. 2017 Feb;10(1):35-46.

doi: 10.1007/s12265-017-9730-8. Epub 2017 Jan 30.

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

M Alejandra Restrepo-Cordoba¹, Oscar Campuzano^{2

3

4}, Tomás Ripoll-Vera⁵, Marta Cobo-Marcos^{1

4}, Irene Mademont-Soler^{2

4}, José M Gámez⁵, Fernando Dominguez^{1

4

6}, Esther Gonzalez-Lopez^{1

4

5}, Laura Padron-Barthe^{1

4

6}, Enrique Lara-Pezzi^{4

6}, Luis Alonso-Pulpon^{1

4}, Ramon Brugada^{2

3

4

7}, Pablo Garcia-Pavia^{8

9

10

11}

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.
² Cardiovascular Genetics Centre, Institut d'Investigació Biomèdica de Girona (IDIBGi), Girona, Spain.
³ Department of Medical Science, Medical School, Universitat de Girona (UdG), Girona, Spain.
⁴ Centro de Investigacion Biomedica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.
⁵ Department of Cardiology, Hospital Son Llatzer & IdISPa, Mallorca, Spain.
⁶ Myocardial Biology Programme, Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.
⁷ Department of Cardiology, Hospital Josep Trueta, Girona, Spain.
⁸ Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Manuel de Falla 2, Majadahonda, 28222, Madrid, Spain. pablogpavia@yahoo.es.
⁹ Centro de Investigacion Biomedica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain. pablogpavia@yahoo.es.
¹⁰ Myocardial Biology Programme, Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain. pablogpavia@yahoo.es.
¹¹ Francisco de Vitoria University, Madrid, Spain. pablogpavia@yahoo.es.

PMID: 28138913
DOI: 10.1007/s12265-017-9730-8

Review

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

M Alejandra Restrepo-Cordoba et al. J Cardiovasc Transl Res. 2017 Feb.

. 2017 Feb;10(1):35-46.

doi: 10.1007/s12265-017-9730-8. Epub 2017 Jan 30.

Authors

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.
² Cardiovascular Genetics Centre, Institut d'Investigació Biomèdica de Girona (IDIBGi), Girona, Spain.
³ Department of Medical Science, Medical School, Universitat de Girona (UdG), Girona, Spain.
⁴ Centro de Investigacion Biomedica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain.
⁵ Department of Cardiology, Hospital Son Llatzer & IdISPa, Mallorca, Spain.
⁶ Myocardial Biology Programme, Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain.
⁷ Department of Cardiology, Hospital Josep Trueta, Girona, Spain.
⁸ Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Manuel de Falla 2, Majadahonda, 28222, Madrid, Spain. pablogpavia@yahoo.es.
⁹ Centro de Investigacion Biomedica en Red en Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain. pablogpavia@yahoo.es.
¹⁰ Myocardial Biology Programme, Centro Nacional de Investigaciones Cardiovasculares (CNIC), Madrid, Spain. pablogpavia@yahoo.es.
¹¹ Francisco de Vitoria University, Madrid, Spain. pablogpavia@yahoo.es.

PMID: 28138913
DOI: 10.1007/s12265-017-9730-8

Erratum in

Correction to: Usefulness of Genetic Testing in Hypertrophic Cardiomyopathy: an Analysis Using Real-World Data.
Restrepo-Cordoba MA, Campuzano O, Ripoll-Vera T, Cobo-Marcos M, Mademont-Soler I, Gámez JM, Dominguez F, Gonzalez-Lopez E, Padron-Barthe L, Lara-Pezzi E, Alonso-Pulpon L, Brugada R, Garcia-Pavia P. Restrepo-Cordoba MA, et al. J Cardiovasc Transl Res. 2019 Aug;12(4):389-390. doi: 10.1007/s12265-019-09901-5. J Cardiovasc Transl Res. 2019. PMID: 31309403

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.

Keywords: Family screening; Genetics; Hypertrophic cardiomyopathy; Mutations; Prognosis.

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References

1. Am J Cardiol. 2014 Sep 1;114(5):769-76 - PubMed
1. Cardiovasc Res. 2015 Apr 1;105(4):397-408 - PubMed
1. Circulation. 2010 Dec 7;122(23):2430-40; discussion 2440 - PubMed
1. BMC Med Genet. 2012 Mar 19;13:17 - PubMed
1. Rev Esp Cardiol (Engl Ed). 2016 Feb;69(2):149-58 - PubMed

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[1] Am J Cardiol. 2014 Sep 1;114(5):769-76 - PubMed

[2] Am J Cardiol. 2014 Sep 1;114(5):769-76 - PubMed

[3] Cardiovasc Res. 2015 Apr 1;105(4):397-408 - PubMed

[4] Cardiovasc Res. 2015 Apr 1;105(4):397-408 - PubMed

[5] Circulation. 2010 Dec 7;122(23):2430-40; discussion 2440 - PubMed

[6] Circulation. 2010 Dec 7;122(23):2430-40; discussion 2440 - PubMed

[7] BMC Med Genet. 2012 Mar 19;13:17 - PubMed

[8] BMC Med Genet. 2012 Mar 19;13:17 - PubMed

[9] Rev Esp Cardiol (Engl Ed). 2016 Feb;69(2):149-58 - PubMed

[10] Rev Esp Cardiol (Engl Ed). 2016 Feb;69(2):149-58 - PubMed

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

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

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