Mother-Daughter Transmission of Congenital Central Hypoventilation Syndrome

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...

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Bibliographic Details
Published in:American journal of respiratory and critical care medicine 2002-08, Vol.166 (3), p.367-369
Main Authors: Sritippayawan, Suchada, Hamutcu, Refika, Kun, Sheila S, Ner, Zarah, Ponce, Monique, Keens, Thomas G
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Female
Humans
Infant, Newborn
Infectious Disease Transmission, Vertical
Medical sciences
Pneumology
Pregnancy
Respiratory system : syndromes and miscellaneous diseases
Sleep Apnea, Central - congenital
Sleep Apnea, Central - genetics
Sleep Apnea, Central - therapy
Syndrome
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Summary: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.
ISSN:1073-449X
1535-4970
DOI:10.1164/rccm.2112087