Congenital Central Hypoventilation Syndrome in Israel—Novel Findings from a New National Center

Yakov Sivan, Yael Bezalel, Avital Adato, Navit Levy, Ori Efrati

פרסום מחקרי: פרסום בכתב עתמאמרביקורת עמיתים

תקציר

Background. Congenital central hypoventilation syndrome (CCHS) is a rare autosomal-dominant disorder of the autonomic nervous system that results from mutations in the PHOX2B gene. A national CCHS center was founded in Israel in 2018. Unique new findings were observed. Methods. All 27 CCHS patients in Israel were contacted and followed. Novel findings were observed. Results. The prevalence of new CCHS cases was almost twice higher compared to other countries. The most common mutations in our cohort were polyalanine repeat mutations (PARM) 20/25, 20/26, 20/27 (combined = 85% of cases). Two patients showed unique recessive inheritance while their heterozygotes family members were asymptomatic. A right-sided cardio-neuromodulation was performed on an eight-year-old boy for recurrent asystoles by ablating the parasympathetic ganglionated plexi using radiofrequency (RF) energy. Over 36 months’ follow-up with an implantable loop-recorder, no bradycardias/pauses events were observed. A cardiac pacemaker was avoided. Conclusions. A significant benefit and new information arise from a nationwide expert CCHS center for both clinical and basic purposes. The incidence of CCHS in some populations may be increased. Asymptomatic NPARM mutations may be much more common in the general population, leading to an autosomal recessive presentation of CCHS. RF cardio-neuromodulation offers a novel approach to children avoiding the need for permanent pacemaker implantation.

שפה מקוריתאנגלית
מספר המאמר3971
כתב עתJournal of Clinical Medicine
כרך12
מספר גיליון12
מזהי עצם דיגיטלי (DOIs)
סטטוס פרסוםפורסם - יוני 2023

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