Challenges in congenital central hypoventilation syndrome (Ondine’s curse) on pregnancy: a case report

2016 ◽  
Vol 37 (1) ◽  
pp. 107-108 ◽  
Author(s):  
Renato Teixeira Souza ◽  
Felipe Favorette Campanharo ◽  
Edward Araujo Júnior ◽  
Gustavo Antonio Moreira ◽  
Diego Robles Mazzotti ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Central Hypoventilation Syndrome ◽  
Ondine’S Curse ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome ◽  
Ondine's Curse

Exclusion ofRNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse)

2003 ◽  
Vol 117A (1) ◽  
pp. 18-20 ◽  
Author(s):  
Jeanne Amiel ◽  
Anna Pelet ◽  
Ha Trang ◽  
Lo�c de Pontual ◽  
Michel Simonneau ◽  
...  
Keyword(s):  
Major Gene ◽  
Congenital Central Hypoventilation Syndrome ◽  
Ondine’S Curse ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome ◽  
Ondine's Curse

scholarly journals Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse)

2008 ◽  
Vol 29 (5) ◽  
pp. 770-770 ◽  
Author(s):  
Delphine Trochet ◽  
Loïc de Pontual ◽  
Maria Helena Estêvao ◽  
Yves Mathieu ◽  
Arnold Munnich ◽  
...  
Keyword(s):  
Homozygous Mutation ◽  
Congenital Central Hypoventilation Syndrome ◽  
Phox2b Gene ◽  
Ondine’S Curse ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome ◽  
Ondine's Curse

Short-term blood pressure and heart rate variability in congenital central hypoventilation syndrome (Ondine's curse)

2005 ◽  
Vol 108 (3) ◽  
pp. 225-230 ◽  
Author(s):  
Ha TRANG ◽  
Arlette GIRARD ◽  
Dominique LAUDE ◽  
Jean-Luc ELGHOZI
Keyword(s):  
Blood Pressure ◽  
Heart Rate ◽  
Heart Rate Variability ◽  
Congenital Central Hypoventilation Syndrome ◽  
Healthy Controls ◽  
Short Term ◽  
Ondine’S Curse ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome ◽  
Ondine's Curse

The effect of CCHS (congenital central hypoventilation syndrome, or Ondine's curse) on short-term BP (blood pressure) and HR (heart rate) variability was evaluated in 16-year-old subjects presenting a form of CCHS requiring night ventilatory assistance. The 12 patients were compared with 12 age- and gender-matched healthy volunteers. Recordings were obtained during daytime while the subjects were breathing spontaneously. Continuous BP was measured with a Finapres® device in the supine, head-up tilt and standing positions. The manoeuvre of actively standing was also analysed. HR levels were elevated in CCHS subjects at supine rest (+23%) with a reduced HR overall variability (−88%). The low- and high-frequency components of HR variability were affected. BP levels were preserved at rest, but the manoeuvres demonstrated a limited capacity to elevate BP. There was no overshoot in BP during the manoeuvre of actively standing, and steady standing BP levels in patients were not higher than supine BP levels as usually observed in healthy controls. The spontaneous baroreflex sensitivity estimated using the sequence technique or the cross-spectral analysis fell in the patients to approx. one-third of the sensitivity estimated in the healthy controls whatever the position. This cardiovascular profile suggests a predominant vagal dysfunction with signs of vagal withdrawal and baroreflex failure, and relative preservation of the cardiac and vascular sympathetic function. It is likely that the impaired ontogeny of the visceral reflexes, considered now to cause CCHS syndrome, includes the baroreceptive pathway and mainly its vagal component.

Sign in / Sign up

Export Citation Format

Share Document