Mother-Daughter Transmission of Congenital Central Hypoventilation Syndrome

• Published in: American journal of respiratory and critical care medicine Vol. 166; no. 3; pp. 367 - 369
• Main Authors: Sritippayawan, Suchada, Hamutcu, Refika, Kun, Sheila S, Ner, Zarah, Ponce, Monique, Keens, Thomas G
• Format: Journal Article
• Language: English
• Published: New York, NY Am Thoracic Soc 01.08.2002; American Lung Association
• 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; Human; Nervous system diseases; Central alveolar hypoventilation; Congenital; Maternal diseases; Congenital disease; Genetic determinism; Cerebral disorder; Genetic disease; Case study; Pregnancy; Concomitant disease; Phenotype; Autosomal character; Central nervous system disease; Vertical transmission; Dominant character; Brain stem syndrome
• ISSN: 1073-449X; 1535-4970
• DOI: 10.1164/rccm.2112087

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.