Cardiovascular Findings in Klippel-Feil Syndrome: A Systematic Review

Klippel-Feil syndrome (KFS) is a congenital disease defined by an abnormal fusion between cervical vertebrae. Due to the rarity of the disorder, its prevalence, along with its pathogenesis and associated conditions, remains to be clearly defined. The aim of this review is to summarize the findings of all case reports of KFS in PubMed over the last 10 years that describe cardiovascular disease, defects, or abnormalities. A total of 43 articles containing 46 reports were included from the 157 case reports considered. Cases were reviewed for commonality in biological sex and vertebral fusion and level using the Samartzis classification system to determine what association, if any, exists with the cardiovascular findings analyzed. A total of 72% of cases reported one or more findings consistent with congenital heart disease. Using the Samartzis classification system, type III KFS was the most common fusion profile overall in this subset of patients. The heterogeneity of disease manifestations makes the treatment and management of KFS case-dependent, though current guidelines highlight the importance of a multidisciplinary care team for pediatric patients. Our findings support this notion and provide evidence for the inclusion of a care provider who specializes in cardiovascular medicine in patients of all ages, as well as the consideration of additional diagnostic screening exams for cardiovascular abnormalities. Future studies into the embryological origin of KFS and a more robust search for a genetic marker are needed to better understand the development of the disease and its various associated conditions.