Genetic variants, pathophysiological pathways, and oral anticoagulation in patients with hypertrophic cardiomyopathy and atrial fibrillation

Abstract

Atrial fibrillation (AF) is commonly prevalent in patients with hypertrophic cardiomyopathy (HCM). However, whether the prevalence and incidence of AF are different between genotype-positive vs. genotype-negative patients with HCM remains controversial. Recent evidence has indicated that AF is often the first presentation of genetic HCM patients in the absence of a cardiomyopathy phenotype, implying the importance of genetic testing in this population with early-onset AF. However, the association of the identified sarcomere gene variants with HCM occurrence in the future remains unclear. How the identification of these cardiomyopathy gene variants should influence the use of anticoagulation therapy for a patient with early-onset AF is still undefined. In this review, we sought to assess the genetic variants, pathophysiological pathways, and oral anticoagulation in patients with HCM and AF.

Managing Stroke Prevention in Hypertrophic Obstructive Cardiomyopathy (HOCM) Patients Without Confirmed Persistent Atrial Fibrillation: A Dilemma of Anticoagulation

“…Although there is a dearth of studies directly addressing stroke prevention in HOCM patients without confirmed persistent AFib, some research has explored the potential benefits of anticoagulation in patients with cardiomyopathies, including HOCM, without persistent AFib [ 2 ]. SPAF1 study demonstrated that aspirin and warfarin were both effective agents in reducing ischemic stroke and systemic embolic events in patients with Afib when compared to placebo.…”

“…Potential underdiagnosis of arrhythmias: It is possible that arrhythmias, including AFib, are underdiagnosed in HOCM patients without persistent AFib. Using loop recorders or prolonged monitoring may detect intermittent arrhythmias that could contribute to stroke risk [ 2 ]. Therefore, not relying solely on confirmed persistent AFib diagnosis may be crucial in identifying underlying arrhythmias and managing stroke risk effectively in HOCM patients.…”

“…Extending the use of anticoagulation to HOCM patients without persistent AFib could offer similar benefits by reducing the formation of thrombi and subsequent embolic strokes. Considering the shared mechanisms and the potential underdiagnosis of arrhythmias [ 1 , 2 ], anticoagulation may be a reasonable intervention to mitigate stroke risk in this patient population.…”

“…However, limited research focuses explicitly on the stroke risk in HOCM patients without confirmed persistent AFib. Despite the lack of specific studies addressing this population, research on anticoagulation for stroke prevention in patients with cardiomyopathies, including HOCM, without confirmed persistent AFib suggests potential benefits [ 2 ]. These studies generally indicate that anticoagulation may be beneficial in reducing stroke risk in this patient population.…”

“…Third, arrhythmias, including AFib, may be underdiagnosed in HOCM patients without persistent AFib. Using loop recorders or prolonged monitoring may detect intermittent arrhythmias that could contribute to stroke risk [ 2 ]. Finally, anticoagulation has proven efficacy in reducing stroke risk in patients with persistent AFib, and extending its use to HOCM patients without persistent AFib could offer similar benefits.…”