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Concealed Inherited Cardiomyopathies Detected in Cardio-Oncology Screening
Rebeca Lorca1,2,3,4,5, Isaac Pascual1,2,6, Maria Fernandez1
1Área del Corazón, Hospital Universitario Central Asturias, 33011 Oviedo, Spain.
Insights
Cardio-oncology screening identified inherited cardiomyopathies (ICMPs) in breast cancer patients, enabling personalized care. This opportunistic approach helps detect high-risk individuals and their relatives for preventative strategies.
Area of Science:
- Cardiology
- Oncology
- Genetics
Background:
- Cardiovascular risk assessment is crucial in cardio-oncology.
- Integrating clinical data, ECG, and echocardiograms can reveal inherited cardiomyopathies (ICMPs).
- Identifying ICMPs is vital for managing cardiotoxicity risk in cancer patients.
Purpose of the Study:
- To evaluate the effectiveness of a Cardio-Oncology Unit in detecting concealed ICMPs.
- To assess the prevalence of ICMPs in breast cancer patients undergoing cardiac evaluation.
Main Methods:
- Retrospective study of breast cancer patients referred to a Cardio-Oncology Unit (2020-2022).
- Diagnosis of ICMPs based on ESC guidelines, followed by genetic testing.
- Comparison of ICMP prevalence with reported general population frequencies.
Main Results:
- Eight ICMPs were identified in 591 breast cancer patients: arrhythmogenic cardiomyopathy (ACM), dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), and left ventricular non-compaction cardiomyopathy (LVNC).
- Identified ICMP prevalence fell within expected ranges, indicating neither overdiagnosis nor underdiagnosis.
- Genetic testing revealed pathogenic variants in FLNC and TTN genes.
Conclusions:
- Opportunistic screening for ICMPs during cardiovascular risk assessment identifies high-risk cancer patients.
- Personalized medicine and preventative strategies can be extended to affected patients and their relatives.
- Early detection of ICMPs facilitates tailored management in cardio-oncology settings.
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.
