Cardiovascular Findings in Klippel-Feil Syndrome: A Systematic Review

Area of Science:

• Genetics and Developmental Biology
• Cardiovascular Medicine
• Orthopedics

Background:

• Klippel-Feil syndrome (KFS) is a congenital disorder characterized by cervical vertebral fusion.
• The rarity of KFS hinders clear definition of its prevalence, pathogenesis, and associated conditions.
• Cardiovascular abnormalities are suspected but not well-defined in KFS patients.

Purpose of the Study:

• To review and summarize case reports of KFS associated with cardiovascular disease over the past decade.
• To identify commonalities in KFS presentation and their correlation with cardiovascular findings.
• To provide evidence for updated KFS management guidelines.

Main Methods:

• Systematic review of KFS case reports published in PubMed within the last 10 years.
• Inclusion criteria focused on reports detailing cardiovascular disease, defects, or abnormalities.
• Analysis of 46 case reports (from 157 considered) for vertebral fusion patterns (Samartzis classification) and cardiovascular associations.

Main Results:

• 72% of reviewed KFS cases exhibited one or more congenital heart disease findings.
• Type III KFS, according to the Samartzis classification, was the most frequent fusion profile in this cohort.
• Significant heterogeneity in KFS manifestations necessitates individualized patient management.

Conclusions:

• A strong association exists between KFS and congenital heart disease, underscoring the need for cardiovascular screening in all KFS patients.
• Multidisciplinary care, including cardiovascular specialists, is crucial for managing KFS.
• Further research into KFS embryology and genetics is required for better understanding and treatment.