Approaches to Genetic Screening in Cardiomyopathies

Exploring Health Care Disparities in Genetic Testing and Research for Hereditary Cardiomyopathy: Current State and Future Perspectives

“… 4 Increasing genetic testing accessibility for minority groups would make genetic testing more clinically helpful in diagnosing cardiomyopathy in these populations; its benefit would be amplified through cascade testing of relatives and build upon their respective ancestry's databases. 82 Beyond the proband patient, testing provides valuable information for the patient's relatives and genetic counselling. Although genetic testing accessibility is only one aspect of health inequality, recognition of more pathological mutations in people of different genetic ancestry would play a role.…”

Myocardial Inflammation as a Manifestation of Genetic Cardiomyopathies: From Bedside to the Bench

“…In detail, both clinical and preclinical evidence support multiple interconnections between cardiac inflammation and diseases of the DCM and ACM spectrum. As shown in Figure 4 , genetic testing should be more extensively applied to distinguish specific etiologies among a spectrum of cardiomyopathies with overlapping phenotypes [ 149 ]. On the other hand, further studies using in vitro and in vivo models are needed to explore the causal relationship between M-Infl and inherited cardiomyopathy genes [ 150 ].…”

Genetic Counseling and Pedigree in Cardiomyopathies – the Role of the Clinical Geneticist

“…When evaluating a patient with suspected genetic cardiomyopathy, the first step is to exclude other etiologies, such as ischemic, hypertensive, valvular, congenital malformation, infectious, or related to medications such as anthracyclines. 3 Factors such as early age at presentation, severe cardiomyopathy with no apparent etiological explanation, low voltage on the electrocardiogram, positive family history for cardiomyopathy, and extracardiac manifestations such as skeletal neuromuscular disease and dysautonomia are warning signs for possible genetic cardiomyopathy. [3][4][5][6] Currently, due to the easy of access to nextgeneration sequencing (NGS) panels for the diagnosis DOI: https://doi.org/10.36660/abchf.20230023 of cardiomyopathies, in addition to their advantages, it has become attractive for cardiologists to request these tests.…”

“…3 Factors such as early age at presentation, severe cardiomyopathy with no apparent etiological explanation, low voltage on the electrocardiogram, positive family history for cardiomyopathy, and extracardiac manifestations such as skeletal neuromuscular disease and dysautonomia are warning signs for possible genetic cardiomyopathy. [3][4][5][6] Currently, due to the easy of access to nextgeneration sequencing (NGS) panels for the diagnosis DOI: https://doi.org/10.36660/abchf.20230023 of cardiomyopathies, in addition to their advantages, it has become attractive for cardiologists to request these tests. Collaboration with a geneticist is essential for these interpretations, in addition to other specialties in the systemic follow-up of patients with genetic disease, providing guidance for appropriate treatment, further sources of clinical research, and gene therapies (Figure 1).…”

“…The interpretation of the genetic test result may need to be revised by the geneticist, due to a relatively low positivity rates, namely, 30% to 50% in cases of hypertrophic cardiomyopathy, 20% to 30% in dilated cardiomyopathy, and 50% in arrhythmogenic right ventricular cardiomyopathy, in addition to the high rate of variants of uncertain significance (VUS), which may influence correct diagnosis. [3][4][5]…”