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. 2023 Dec 19;13(1):2.
doi: 10.3390/jcm13010002.

Concealed Inherited Cardiomyopathies Detected in Cardio-Oncology Screening

Rebeca Lorca  1   2   3   4   5 , Isaac Pascual  1   2   6 , Maria Fernandez  1 , Rut Alvarez-Velasco  1   2 , Santiago Colunga  1   2 , Maria Muñiz  7 , Marta Izquierdo  7 , Yolanda Fernandez  7 , Emilio Esteban  6   7 , Juan Gomez  2   4   5 , Pablo Avanzas  1   2   6   8 , Teresa Lopez-Fernandez  9
Affiliations

Concealed Inherited Cardiomyopathies Detected in Cardio-Oncology Screening

Rebeca Lorca et al. J Clin Med. .

Abstract

Introduction: Basal cardiovascular risk assessment in cardio-oncology is essential. Integrating clinical information, ECG and transthoracic echocardiogram can identify concealed inherited cardiomyopathies (ICMPs) with potential added risk of cardiotoxicity. We aimed to evaluate the impact of our Cardio-Oncology Unit design in detecting concealed ICMPs.

Methods: We carried out a retrospective study of all consecutive breast cancer patients referred to the Cardio-Oncology Unit for cardiac evaluation (2020-2022). ICMPs diagnosis was provided according to ESC guidelines and underwent genetic testing. ICMPs prevalence in this cohort was compared to the highest and lowest frequency reported in the general population.

Results: Among 591 breast cancer patients, we identified eight patients with ICMPs: one arrhythmogenic cardiomyopathy (ACM), three familial non-ischemic dilated cardiomyopathy (DCM), three hypertrophic cardiomyopathy (HCM) and one left ventricular non-compaction cardiomyopathy (LVNC), which has now been reclassified as non-dilated left ventricular cardiomyopathy. The number of ICMPs identified was within the expected range (neither overdiagnosed nor overlooked): ACM 0.0017 vs. 0.0002-0.001 (p 0.01-0.593); DCM 0.0051 vs. 0.002-0.0051 (p 0.094-0.676); HCM 0.005 vs. 0.0002-0.002 (p < 0.001-0.099); LVCN 0.0017 vs. 0.00014-0.013 (p 0.011-0.015). Genetic testing identified a pathogenic FLNC variant and two pathogenic TTN variants.

Conclusion: Opportunistic screening of ICMPs during basal cardiovascular risk assessment can identify high-risk cancer patients who benefit from personalized medicine and enables extension of prevention strategies to all available relatives at concealed high cardiovascular risk.

Keywords: cardio-oncology; cardiomyopathy; genetics.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Clinical diagnostic workflow. All breast cancer patients are referred for basal cardiovascular risk assessment. Thanks to integral clinical evaluation at Cardio-Oncology Unit, patients with concealed inherited cardiomyopathies can be identified. All patients undergo multidisciplinary team management. ECG, electrocardiogram.
Figure 2
Figure 2
Flowchart of breast cancer patients with genetic testing. Cardio-oncology evaluation (cardiovascular risk stratification including cardiotoxic cancer treatment, physical examination, family history of cardiovascular disease).
Figure 3
Figure 3
Electrocardiograms. (A) Patient 1 with arrhythmogenic cardiomyopathy; (B) patient 4 with dilated cardiomyopathy; (C) patient 6 with hypertrophic cardiomyopathy and apical aneurism; (D) patient 7 with apical hypertrophic cardiomyopathy.
See this image and copyright information in PMC

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References

    1. Herrmann J., Lerman A., Sandhu N.P., Villarraga H.R., Mulvagh S.L., Kohli M. Evaluation and management of patients with heart disease and cancer: Cardio-oncology. Mayo Clin. Proc. 2014;89:1287–1306. doi: 10.1016/j.mayocp.2014.05.013. - DOI - PMC - PubMed
    1. Zamorano J.L., Lancellotti P., Rodriguez Muñoz D., Aboyans V., Asteggiano R., Galderisi M., Habib G., Lenihan D.J., Lip G.Y.H., Lyon A.R., et al. 2016 ESC Position Paper on cancer treatments and cardiovascular toxicity developed under the auspices of the ESC Committee for Practice Guidelines: The Task Force for cancer treatments and cardiovascular toxicity of the European Society of Cardiology (ESC) Eur. Heart J. 2016;37:2768–2801. doi: 10.1093/eurheartj/ehw211. - DOI - PubMed
    1. Lyon A.R., López-Fernández T., Couch L.S., Asteggiano R., Aznar M.C., Bergler-Klein J., Boriani G., Cardinale D., Cordoba R., Cosyns B., et al. 2022 ESC Guidelines on cardio-oncology developed in collaboration with the European Hematology Association (EHA), the European Society for Therapeutic Radiology and Oncology (ESTRO) and the International Cardio-Oncology Society (IC-OS) Eur. Heart J. 2022;43:4229–4361. doi: 10.1093/eurheartj/ehac244. - DOI - PubMed
    1. Lancellotti P., Suter T.M., López-Fernández T., Galderisi M., Lyon A.R., Van der Meer P., Cohen Solal A., Zamorano J.-L., Jerusalem G., Moonen M., et al. Cardio-Oncology Services: Rationale, organization, and implementation. Eur. Heart J. 2019;40:1756–1763. doi: 10.1093/eurheartj/ehy453. - DOI - PubMed
    1. Lyon A.R., Dent S., Stanway S., Earl H., Brezden-Masley C., Cohen-Solal A., Tocchetti C.G., Moslehi J.J., Groarke J.D., Bergler-Klein J., et al. Baseline cardiovascular risk assessment in cancer patients scheduled to receive cardiotoxic cancer therapies: A position statement and new risk assessment tools from the Cardio-Oncology Study Group of the Heart Failure Association of the European Society of Cardiology in collaboration with the International Cardio-Oncology Society. Eur. J. Heart Fail. 2020;22:1945–1960. - PMC - PubMed

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