# Sleep Apnea and Hypertrophic Cardiomyopathy - Implications for Arrhythmia and Sudden Death

> **NIH NIH R01** · MAYO CLINIC ROCHESTER · 2020 · $733,151

## Abstract

Project Description
Hypertrophic cardiomyopathy (HCM) is the commonest inherited heart condition. Associated with debilitating
refractory symptoms, atrial fibrillation (AF), heart failure (HF) and ventricular arrhythmia (VA), HCM is the
leading cause of sudden cardiac death (SCD) in young adults and children. Sleep disordered breathing (SDB),
which includes central and obstructive sleep apnea (OSA), has a high prevalence in cardiovascular disease.
We and others have shown OSA to be an independent risk factor for AF, HF, nocturnal myocardial infarction
and SCD. Our preliminary data suggest that SDB has a high prevalence in patients with HCM and is
associated with decreased exercise capacity and AF. While we have shown that OSA is a risk factor for SCD
in the general population, its role in HCM-related SCD has never been studied. Apart from our pilot data using
gold-standard attended polysomnography (PSG) in patients with HCM, showing a prevalence of OSA greater
than 60%, there are no studies using PSG in HCM. We propose to investigate the role of OSA in HCM by:
1) Determining the prevalence, types and severity of SDB in patients with HCM compared with age and sex-
matched, normal controls using comprehensive attended PSG.
2) Evaluating the association of OSA and biomarkers of cardiovascular risk including endothelial dysfunction,
structural and functional cardiac changes, impaired heart rate variability, and baroreflex dysfunction.
3) Estimating the prevalence ratio for AF in the setting of HCM with and without OSA, and determining the
incidence ratio of newly diagnosed AF in the setting of HCM in a prospective longitudinal cohort study.
4) Characterizing the association of OSA with the frequency and day-night variation of VA and sudden death.
We hypothesize that OSA has a high prevalence amongst patients with HCM, and is independently associated
with refractory symptoms, AF, VA, and SCD. The scientific premise for this proposal builds on several
decades of our pioneering work on the cardiovascular consequences of OSA, and our published exploratory
studies suggesting undiagnosed SDB is highly prevalent in HCM, and is associated with decreased exercise
capacity and increased frequency of AF. Our unpublished pilot data generated for this proposal support our
central hypothesis: over 60% of unselected patients with HCM have OSA documented by PSG. The Mayo
HCM registry is the largest single-center HCM database in the world with research authorization from 3,673
patients, supporting feasibility of our proposal. Our findings will lead to increased understanding of the role of
OSA in symptoms, disease mechanisms, arrhythmia, and SCD, which are the fundamental treatment goals in
HCM. This innovative proposal holds significant promise as an elegant and rapidly translatable avenue for
improving outcomes in HCM, and will be pivotal in identifying a novel, effective management strategy. These
goals directly address the NHLBI mission statement: to promote prev...

## Key facts

- **NIH application ID:** 9939674
- **Project number:** 5R01HL134885-04
- **Recipient organization:** MAYO CLINIC ROCHESTER
- **Principal Investigator:** Virend K Somers
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $733,151
- **Award type:** 5
- **Project period:** 2017-06-01 → 2023-03-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9939674

## Citation

> US National Institutes of Health, RePORTER application 9939674, Sleep Apnea and Hypertrophic Cardiomyopathy - Implications for Arrhythmia and Sudden Death (5R01HL134885-04). Retrieved via AI Analytics 2026-05-27 from https://api.ai-analytics.org/grant/nih/9939674. Licensed CC0.

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