BACKGROUND
In approximately 5-10% of cases, hypertrophic cardiomyopathy (HCM) presents left ventricular remodeling with hypokinesia and dilatation, defined "end-stage" phase (ES) of the disease, typically associated with development of advanced heart failure (HF). Prescription of conventional medical treatments for HF with a reduced ejection fraction (HFrEF) have never been investigated in ES-HCM.
METHODS
ES-HCM patients from 11 Italian referral centres were retrospectively evaluated. We included only patients with a last clinical evaluation after 2019, to ensure all patients were potentially evaluated in the era of the "4 HFrEF pillars" (beta blockers [BB], renin-angiotensin system inhibitors [RASi], mineralocorticoid receptor antagonists [MRA], and sodium-glucose cotransporter-2 inhibitors [SGLT2i]). For all patients we collected clinical information, with a focus on medical therapy at last clinical evaluation.
RESULTS
The study population included 274 ES-HCM patients (59% males, mean age 60 ± 15 years). All 4 HFrEF pillars were prescribed in 26%. Specifically, 90% were treated with BB, 75% with RASi, 66% with MRA, 46% with SGLT2i. Few differences emerged when comparing patients taking versus not taking BB or RASi. Patients taking versus not taking MRA and SGLT2i more commonly had atrial fibrillation and showed worse echocardiographic features. SGLT2i use was significantly higher among ES-HCM patients with LVEF <40%.
CONCLUSIONS
While BB and RASi are commonly used in ES-HCM, MRA and SGLT2i are prescribed less frequently and in patients with a worse clinical profile. Combination of all classes is not common, suggesting both clinical inertia and limitations inherent to the disease pathophysiology.
G. Tini, Isabella Perlati, S. Palma et al.· International Journal of Car...· 0 citations
Background In dilated (DCM) and arrhythmogenic cardiomyopathies (ACM), monogenic variants in causative genes are key prognostic factors. In the general population, the clinical role of these variants remains debated. Objectives This study aimed to determine the association between rare, predicted deleterious variants (PDrV) in DCM- and ACM-associated genes and disease-related outcomes in the general population. Methods Using United Kingdom Biobank whole-exome sequencing data, we identified PDrVs in 25 DCM/ACM-validated genes. We assessed disease penetrance in carriers and their risk for two primary outcomes—sudden cardiac death/malignant ventricular arrhythmias (SCD/MVA) and heart failure death/heart transplant (HF/HT)—using cause-specific Cox models accounting for competing risks. Results Among 469,671 participants, 54.2% were females and the median age at baseline was 53.5 (IQR: 10.3). During a median follow-up of 14 years (IQR: 2), 5786 SCD/MVA and 4611 HF/HT events occurred. A PDrV was found in 12,973 (2.8%) individuals. Despite low penetrance for DCM (1.0%), PDrV impacted on both outcomes. Compared to noncarriers, PDrV carriers had a higher risk of SCD/MVA (HR: 1.28; 95% CI: 1.11-1.48). In participants free from DCM or other heart diseases at recruitment, SCD/MVA risk was solely associated with ACM genes (HR: 1.34; 95% CI: 1.07-1.69). Carriers also exhibited a higher risk of HF/HT (HR: 1.32; 95% CI: 1.08-1.62), which was not confirmed in subgroup without other heart diseases. Conclusions PDrV carriers have a higher risk of severe cardiac events, even without a clinical overt disease phenotype at baseline evaluation. Moreover, PDrV in arrhythmic genes significantly influence SCD/MVA risk, regardless of phenotypic diagnosis of DCM.
I. Gandin, A. Vergani, M. Massi et al.· JACC: Advances· 0 citations
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