CHEST Guidelines-A-43-Year-Old-Man-With-Daytime-Sleepiness-and-a-He

A-43-Year-Old-Man-With-Daytime-Sleepiness-and-a-He

Pdf Summary

A 43-year-old man experienced daytime sleepiness and was referred for sleep apnea treatment at a sleep center. His diagnostic overnight polysomnography revealed an apnea-hypopnea index (AHI) of 22/h, predominantly central apnea, and was more pronounced during non-REM sleep and in a supine position. A continuous positive airway pressure (CPAP) trial was not tolerated by the patient due to lightheadedness. He had experienced declining physical performance with dyspnea but no significant past cardiopulmonary history. A heart murmur was detected.<br /><br />Upon further examination, the patient exhibited standard vital signs and a systolic murmur, while laboratory tests were normal. However, an ECG revealed T-inversions and an epsilon wave, and echocardiography showed a severely dilated and impaired right ventricle. The cardiac MRI confirmed a right ventricular ejection fraction of 22% and indicated pronounced fibrosis. These findings led to a diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC), which is often a genetic disorder marked by structural and functional abnormalities of the ventricles.<br /><br />ARVC is characterized by a loss of myocytes and their replacement with fatty tissue, leading to heart enlargement and dysfunction. Many patients with ARVC present with arrhythmias, palpitations, and, sometimes, sudden cardiac death. Although central sleep apnea (CSA) is not a typical manifestation of ARVC, it is often related to heart failure and other systemic conditions. Treatment focuses on heart function optimization, including medical therapy, lifestyle adjustments, and potentially ICD implantation. CPAP and adaptive servoventilation may help, but their benefits in ARVC remain unclear.<br /><br />The patient's treatment included heart failure medications and a prophylactic ICD, with lifestyle modifications. Adaptive servoventilation trial reduced the AHI but was not tolerated, shifting the focus to positional therapy and oxygen alternatives. Genetic counseling was recommended given the familial potential of ARVC.

Keywords

arrhythmogenic right ventricular cardiomyopathy

central sleep apnea

apnea-hypopnea index

right ventricular ejection fraction

heart murmur

T-inversions

epsilon wave

genetic counseling

adaptive servoventilation

positional therapy