Am. J. Respir. Crit. Care Med., Volume 156, Number 1, July 1997, 155-160

Ventilatory-control Abnormalities in Familial Sleep Apnea

SUSAN REDLINE, JANICE LEITNER, JEAN ARNOLD, PETER V. TISHLER, and MURRAY D. ALTOSE

Department of Medicine, Cleveland Veterans Affairs Medical Center, Case Western Reserve University Cleveland, Ohio; Brockton-West Roxbury Veterans Affairs Medical Center, Harvard Medical School, West Roxbury, Massachusetts

The role of ventilatory-control abnormalities in predisposing to familial sleep-disordered breathing (SDB) was assessed in 31 subjects 28 ± 10 yr of age (mean ± SD). Subjects with (n = 10) and without SDB (n = 12) were recruited from 13 families having two or more members with SDB. Nine age- and gender-matched controls were recruited from families having no member with SDB. Respiratory responses to eucapnic hypoxia, and ventilatory and occlusion pressure responses to hyperoxic hypercapnia with and without added resistive loads (6.5 cm H₂O/L/s), were assessed through rebreathing. Age, FEV₁, and FVC did not differ among the groups. Hypoxic responses (VE/Sa_O2) were significantly lower among the first-degree relatives of SDB families than among controls (0.76 ± 0.47 L/min/% Sa_O2, and 1.32 ± 0.92 L/min/% Sa_O2, respectively, p < 0.05). Respiratory responses to hypercapnia during unloaded conditions were similar among the groups. With resistive loading, inspiratory impedance, as measured through the relationship of mouth occlusion pressure (P₁₀₀) to inspiratory flow (VT/TI), increased with increasing hypercapnia to a greater extent in members of SDB families than in controls (0.169 ± 0.054 cm H₂O/L/min versus 0.122 ± 0.051, respectively, p < 0.05). These data suggest that familial SDB may be based partly on a familial abnormality in ventilatory control associated with blunting of the hypoxic ventilatory response. The greater increase in impedance during inspiratory loading in members of affected families also suggests a propensity for dynamic airway narrowing.

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