Comparative validation of standard screening tools and an exploratory model for detecting obstructive sleep apnea in hypertrophic cardiomyopathy

Despite representing a highly prevalent comorbidity, standard screening tools for obstructive sleep apnea (OSA) lack validation in the hypertrophic cardiomyopathy (HCM) population. We sought to prospectively evaluate the diagnostic accuracy of three widely used screening tools against gold-standard polysomnography in an HCM cohort and to explore the potential for a tailored predictive model. In this prospective cohort study, patients with HCM completed the Epworth Sleepiness Scale (ESS), Berlin (BQ) and STOP-Bang questionnaires before undergoing inpatient overnight polysomnography. Of 159 participants (median age 60; 64% male), 90 (57%) had OSA (46% mild, 26% moderate, 28% severe). Standard tools yielded modest performance: STOP-Bang [AUC 0.59 (0.50–0.68), sensitivity 77% (68–86), specificity 40% (28–52)]; ESS [AUC 0.58 (0.49–0.67), sensitivity 24% (15–33), specificity 92% (86–98)]; and Berlin [AUC 0.62 (0.53–0.71), sensitivity 65% (55–75), specificity 57% (45–69)]. In contrast, an exploratory model incorporating age, BMI, and waist-hip ratio showed promising preliminary results [AUC 0.82 (0.74–0.88), sensitivity 60% (48–72), specificity 84% (75–91)]. This study underscores the high prevalence of OSA in patients with HCM and demonstrates that standard screening tools developed for the general population perform poorly in this cohort, complicating clinical triage when polysomnography is delayed. While the derived exploratory model may represent an improvement in risk stratification, these findings require extensive external validation. Targeted screening strategies tailored to the unique pathophysiology of HCM remain necessary to improve OSA identification and management in this high-risk population.