Karim Shahid, Chahal Anwar, Venkataraman Shreyas, Deshmukh Abhishek J, Siontis Konstantinos C, Mansukhani Meghna, Konecny Thomas, Khanji Mohammed Y, Petersen Steffen E, Gersh Bernard J, Geske Jeffrey B, Somers Virend K
Department of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota.
William Harvey Research Institute, NIHR Barts Biomedical Centre, Queen Mary University London, London, United Kingdom.
JAMA Cardiol. 2025 Sep 3. doi: 10.1001/jamacardio.2025.2877.
Sleep disordered breathing (SDB) is a well-established contributor to cardiovascular morbidity, mediated by intermittent hypoxemia, autonomic dysregulation, and endothelial dysfunction. Patients with hypertrophic cardiomyopathy (HCM) may be especially at risk for SDB, but the clinical impact of SDB in this population remains unclear.
To define the prevalence and subtypes of SDB in HCM and examine their association with echocardiographic parameters and cardiac biomarker expression.
DESIGN, SETTING, AND PARTICIPANTS: A prospective cohort study was conducted between April 18, 2018, and January 15, 2024, at a single tertiary referral center specializing in HCM care. Adults with HCM (left ventricular wall thickness ≥15 mm or pathogenic variants) were recruited from an institutional registry. Patients diagnosed with SDB or current pregnancy were excluded. Patients underwent polysomnography, with comparative assessment of echocardiographic, electrocardiographic, and biomarker indices. Observers were blinded to polysomnographic results. Data analysis was performed from April 11, 2024, to July 25, 2024.
SDB classified via polysomnography using apnea-hypopnea index thresholds, with subtypes including obstructive sleep apnea and central sleep apnea and with event severity, hypoxemia, and sleep architecture disruption quantified.
Echocardiographic indices, cardiac biomarker expression, functional status, apnea-hypopnea index, and overnight hypoxemia.
Among 154 patients (median [IQR] age, 60 [48-68] years; 102 [66.2%] male), 91 (59.1%) were diagnosed with SDB. Those with SDB, compared with those without SDB, had higher left ventricular mass index (median [IQR], 128 [107-161] vs 109 [96-134] g/m2; P = .03), E/e' ratio (median [IQR], 12.5 [10.0-15.0] vs 10.0 [8.3-14.5]; P = .04), and baseline troponin-T level (median [IQR], 0.013 [0.009-0.022] vs 0.011 [0.007-0.015] ng/mL [to convert to micrograms per liter, multiply by 1]; P = .04) and greater overnight troponin-T level increases (change in median [IQR], 0.0021 [-0.0029 to 0.0062] vs 0.0002 [-0.0022 to 0.0026] ng/mL; P = .02). New York Heart Association class II or III symptoms were more common in those with SDB (48 [52.7%] vs 17 [27.0%]; P = .005). Hypertension and diabetes were more prevalent among patients with SDB than without SDB (hypertension: 67 [73.6%] vs 36 [57.1%]; P = .03; diabetes: 14 [15.4%] vs 3 [4.8%]; P = .04), whereas rates of atrial fibrillation and prior myectomy did not differ significantly between groups.
This study suggests that undiagnosed SDB is highly prevalent in patients with HCM and that SDB is associated with adverse myocardial remodeling, greater diastolic dysfunction, and elevated troponin-T levels, indicating subclinical myocardial injury. SDB may contribute to HCM pathophysiology and symptom burden, supporting the rationale for randomized clinical trials to determine the impact of treating SDB on symptoms and clinical outcomes in patients with HCM.
睡眠呼吸障碍（SDB）是心血管疾病发病的一个公认因素，由间歇性低氧血症、自主神经调节异常和内皮功能障碍介导。肥厚型心肌病（HCM）患者可能尤其易患SDB，但SDB在该人群中的临床影响仍不清楚。
确定HCM患者中SDB的患病率和亚型，并研究它们与超声心动图参数和心脏生物标志物表达的关联。
设计、地点和参与者：2018年4月18日至2024年1月15日，在一家专门治疗HCM的三级转诊中心进行了一项前瞻性队列研究。从机构登记处招募患有HCM（左心室壁厚度≥15mm或致病基因变异）的成年人。排除诊断为SDB或当前怀孕的患者。患者接受多导睡眠图检查，并对超声心动图、心电图和生物标志物指标进行比较评估。观察者对多导睡眠图结果不知情。数据分析于2024年4月11日至2024年7月25日进行。
通过多导睡眠图使用呼吸暂停低通气指数阈值对SDB进行分类，亚型包括阻塞性睡眠呼吸暂停和中枢性睡眠呼吸暂停，并对事件严重程度、低氧血症和睡眠结构紊乱进行量化。
超声心动图指标、心脏生物标志物表达、功能状态、呼吸暂停低通气指数和夜间低氧血症。
在154例患者（中位年龄[四分位间距]，60[48 - 68]岁；102例[66.2%]为男性）中，91例（59.1%）被诊断为SDB。与未患SDB的患者相比，患SDB的患者左心室质量指数更高（中位[四分位间距]，128[107 - 161] vs 109[96 - 134]g/m²；P = 0.03），E/e'比值更高（中位[四分位间距]，12.5[10.0 - 15.0] vs 10.0[8.3 - 14.5]；P = 0.04），基线肌钙蛋白T水平更高（中位[四分位间距]，0.013[0.009 - 0.022] vs 0.011[0.007 - 0.015]ng/mL[转换为微克每升，乘以1]；P = 0.04），夜间肌钙蛋白T水平升高幅度更大（中位[四分位间距]变化，0.0021[-0.0029至0.0062] vs 0.0002[-0.0022至0.0026]ng/mL；P = 0.02）。纽约心脏协会II级或III级症状在患SDB的患者中更常见（48例[52.7%] vs 17例[27.0%]；P = 0.005）。SDB患者中高血压和糖尿病的患病率高于未患SDB的患者（高血压：67例[73.6%] vs 36例[57.1%]；P = 0.03；糖尿病：14例[15.4%] vs 3例[4.8%]；P = 0.04），而两组之间房颤发生率和既往心肌切除术发生率无显著差异。
本研究表明，未诊断出的SDB在HCM患者中非常普遍，且SDB与不良心肌重塑、更严重的舒张功能障碍和肌钙蛋白T水平升高相关，提示存在亚临床心肌损伤。SDB可能促成HCM的病理生理过程和症状负担，支持开展随机临床试验以确定治疗SDB对HCM患者症状和临床结局影响的理论依据。
