title: Mother-daughter transmission of congenital central hypoventilation syndrome.
abstract: The cause of congenital central hypoventilation syndrome (CCHS) is unknown, but a genetic etiology is strongly suspected. We report a 25-year-old woman with CCHS (no Hirschsprung's disease) who gave birth to a daughter who also has CCHS. This suggests a dominant mode of inheritance for CCHS in this family. Pregnancy can be associated with physiologic challenges in CCHS. The increase in endogenous progesterone may stimulate breathing and may possibly improve symptoms of hypoventilation. Although this patient did not have any worsening in symptoms, her hyperoxic hypercapnic rebreathing ventilatory response was not different when pregnant versus when not pregnant. Ventilatory support for the patient was successfully managed with diaphragm pacing throughout the pregnancy without the need to adjust settings, despite the enlarged abdomen during pregnancy. We conclude that CCHS may be an inherited disorder. Increased endogenous progesterone during pregnancy has no effect on the ventilatory response, and diaphragm pacing can successfully provide adequate ventilation throughout pregnancy.
authors.affiliation: Division of Pediatric Pulmonology, Childrens Hospital Los Angeles, 4650 Sunset Boulevard, Los Angeles, CA 90027-6062, USA.
authors.forename: Suchada
authors.initials: S
authors.lastname: Sritippayawan
authors.forename: Refika
authors.initials: R
authors.lastname: Hamutcu
authors.forename: Sheila S
authors.initials: SS
authors.lastname: Kun
authors.forename: Zarah
authors.initials: Z
authors.lastname: Ner
authors.forename: Monique
authors.initials: M
authors.lastname: Ponce
authors.forename: Thomas G
authors.initials: TG
authors.lastname: Keens
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D018445:Infectious Disease Transmission, Vertical; D011247:Pregnancy; D020182:Sleep Apnea, Central / Q000151:congenital* / Q000235:genetics* / Q000628:therapy; D013577:Syndrome