Ellis-van Creveld Syndrome and Congenital Heart Defects: Presentation of an Additional 32 Cases

Abstract

We read with interest the recent article in Pediatric Cardiology by Hills et al. [1]: Ellis-van Creveld Syndrome and Congenital Heart Defects: Presentation of an Additional 32 Cases. The authors are to be commended for their work, which sheds further light on the breadth and complexity of congenital heart disease (CHD) seen in patients with Ellis-van Creveld syndrome (EvC). We agree with the authors that the diagnostic precision afforded by the Pediatric Cardiac Care Consortium (PCCC) database is of great value in its application to EvC because such anatomic detail has not been provided in prior clinical reports. For a syndrome with a 60–70% incidence of CHD, the detailed focus on CHD in this paper is of value to pediatric cardiologists, cardiovascular surgeons, and other providers involved in the care of children with EvC. With respect to outcomes after CHD surgery for patients with EvC, however, some of the results described by Hills et al. [1] were unclear to us. We recently reported outcomes of CHD surgery for children with EvC during the recent era in a smaller, mostly Amish, population [2]. Similar to the findings by Hills et al. [1], we noted a relatively high incidence of systemic venous abnormalities (33%) in our study. However, and in seeming contrast to the data reported by Hills et al. [1], we found that CHD surgery for patients with EvC was associated with a postoperative mortality rate of 44%, with the deaths occurring at a median of 102 days (range, 25–149 days) postoperatively. This incidence is substantially higher than that reported in the study by Hills et al. [1], in which no postoperative deaths were reported. In our study, the majority of deaths were related to respiratory complications, presumably on account of the thoracic dystrophy that is a hallmark of EvC. It is unclear to us how Hills et al. [1] evaluated followup and postoperative mortality in their series of patients. A major limitation of the PCCC database is incomplete or missing follow-up data [3]. In the study by Hills et al. [1], therefore, what was the duration of the follow-up period? A shorter follow-up period (i.e., 30 days), used frequently to determine postoperative mortality, may not be sufficient to capture the true effect of CHD surgery on the respiratory system in EvC. Although we certainly support the concept of repair or palliation of CHD in patients with EvC, we stress that surgery for CHD in patients with EvC is a highrisk undertaking. In our study, substantial mortality was not the only notable finding. In addition, all those surviving surgery experienced postoperative respiratory morbidity (prolonged need for supplemental oxygen, prolonged mechanical ventilation, and tracheostomy). Those involved in the care of children with EvC must consider such data when making treatment decisions and counseling families.