Chowdhury D, et al. - Physicians designed this study to assess the clinical outcome of patients with Ellis-van Creveld syndrome (EVC) in whom congenital heart disease (CHD) repair was delayed intentionally to reduce the risk of postoperative respiratory morbidity and mortality. Delayed surgical repair of CHD reduced postoperative morbidity and improved survival among children with EVC and possibly other short-rib thoracic dysplasias. For optimal timing of surgical repair, respiratory rate served as a simple indicator.

Methods

• This retrospective review consisted of 51 EVC c.1886+5G>T homozygotes born between 2005 and 2014.
• The physicians focused on 18 subjects who underwent surgery for CHD, subdivided into early (mean, 1.3 months) vs delayed (mean, 50.1 months) repair.

Results

• Between control subjects and patients with EVC, growth trajectories differed.
• CHD was correlated with slower weight gain.
• Infants with EVC had a 40%-75% higher respiratory rates (independent of CHD) accompanied by signs of compensated respiratory acidosis, relative to controls.
• In this study, blood gases and respiratory rates approached normal values by age 4 years.
• The physicians observed hemodynamically significant CHD in 23 children, 18 (78%) of whom underwent surgical repair.
• For children born between 2005 and 2009 (n = 9), surgery was performed at 1.3 ± 1.3 months and for children born between 2010 and 2014 (n = 9), it was perfored at 50.1 ± 40.2 months (P=.009).
• Shorter postoperative mechanical ventilation (1.1 ± 2.4 days vs 49.6 ± 57.1 days; P=.075), shorter intensive care duration of stay (16 ± 24 days vs 48.6 ± 44.2 days; P=.155), and no postoperative tracheostomies (vs 60%; P=.028) or deaths (vs 44%; P=.082) were reported in the latter.