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Early genetic screening and cardiac intervention in patients with cardiomyopathies in a multidisciplinary clinic
Chandu Sadasivan1, Luke R Gagnon1, Deepan Hazra1
1Division of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada.
Insights
A multidisciplinary cardiomyopathy clinic improves patient outcomes through early assessment, genetic counseling, and tailored therapies. This approach enhances cardiac function and reduces mortality in diverse cardiomyopathy patient groups.
Area of Science:
- Cardiology
- Genetics
- Internal Medicine
Background:
- Cardiomyopathies represent a heterogeneous group of conditions associated with significant morbidity and mortality.
- Early intervention and genetic counseling are crucial for managing these complex cardiac diseases.
Purpose of the Study:
- To evaluate the effectiveness of a multidisciplinary cardiomyopathy clinic in improving patient outcomes.
- To assess the impact of integrated care on disease progression and mortality.
Main Methods:
- Prospective cohort study of 421 patients with various cardiomyopathies (DCM, HCM, infiltrative, genetic risk).
- Inclusion of genetic counseling, cardiac assessment, and follow-up over a median of 18 months.
- Analysis of medication use, implementation of precision therapies, and changes in cardiac function biomarkers.
Main Results:
- Pathogenic variants identified in 28.5% of the cohort; specific mutations noted in DCM and HCM.
- Significant increase in guideline-directed medical therapies, including ACE inhibitors, beta-blockers, MRAs, and SGLT2 inhibitors.
- Improvements observed in left ventricular ejection fraction (LVEF) for DCM and left ventricular mass index (LVMI) for HCM.
- Reduction in cardiac biomarkers (BNP, NT-proBNP, hsTropT) in advanced stages.
- Low overall cardiovascular mortality rate (1.7%) with high survival probability for early-stage patients.
Conclusions:
- A multidisciplinary cardiomyopathy clinic model effectively improves clinical profiles in patients with diverse cardiomyopathies.
- Integrated care and precision therapies contribute to better patient outcomes and disease management.
Aims:
Patients with cardiomyopathies are a heterogeneous group of patients who experience high morbidity and mortality. Early cardiac assessment and intervention with access to genetic counselling in a multidisciplinary Cardiomyopathy Clinic may improve outcomes and prevent progression to advanced heart failure.
Methods And Results:
Our prospective cohort study was conducted at a multidisciplinary Cardiomyopathy Clinic with 421 patients enrolled (42.5% female, median age 58 years), including 224 patients with dilated cardiomyopathy (DCM, 42.9% female, median age 57 years), 72 with hypertrophic cardiomyopathy (HCM, 43.1% female, median age 60 years), 79 with infiltrative cardiomyopathy (65.8% female, median age 70 years) and 46 who were stage A/at risk for genetic cardiomyopathy (54.3% female, median age 36 years). Patients were seen in follow-up at a median of 18 months. A pathogenic/likely pathogenic variant was identified in 28.5% of the total cohort, including 33.3% of the DCM cohort (28% TTN mutations) and 34.1% of the HCM cohort (60% MYBPC3 and 20% MYH7) who underwent genetic testing. The use of angiotensin-converting enzyme inhibitors/angiotensin receptor blockers/angiotensin receptor neprilysin inhibitor (48.3-69.5% of total cohort, P < 0.001), β-blockers (58.4-72.4%, P < 0.001), mineralocorticoid receptor antagonists (33.9-41.4%, P = 0.0014) and sodium/glucose cotransporter-2 inhibitors (5.3-27.9%, P < 0.001) all increased at follow-up. Precision-based therapies were also implemented, including tafamidis for transthyretin amyloidosis (n = 21), enzyme replacement therapy for Fabry disease (n = 14) and mavacamten (n = 4) for HCM. Optimization of medications and devices resulted in improvements in left ventricular ejection fraction (LVEF) from 27% to 43% at follow-up for DCM patients with reduced LVEF at baseline (P < 0.001) and reduction in left ventricular mass index (LVMI) from 156 g/m2 to 128 g/m2 at follow-up for HCM patients with abnormal LVMI at baseline (P = 0.009). Optimization of therapies was associated with stable plasma biomarkers in stage B patients while lowering levels of BNP (619-517.5 pg/mL, P = 0.048), NT-proBNP (777.5-356 ng/L, P < 0.001) and hsTropT (31-22 ng/L, P = 0.005) at follow-up relative to baseline values for stage C patients. Despite stage B patients having overt cardiomyopathy at baseline, stage A and B patients had a similarly high probability of survival (χ2 = 0.204, P = 0.652). The overall cardiovascular mortality rate was low at 1.7% for the cohort (0.5% for stage B and 3.3% for stage C) over a median of 34-month follow-up.
Conclusion:
Our study demonstrates that a multidisciplinary cardiomyopathy clinic can improve the clinical profiles of patients with diverse genetic cardiomyopathies.
