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Review
. 2024 Oct 28;16(10):e72540.
doi: 10.7759/cureus.72540. eCollection 2024 Oct.

Cardiovascular Findings in Klippel-Feil Syndrome: A Systematic Review

Abbigail Niewchas  1 , Salma Alkhatib  1 , Christopher Stewart  1 , Mitchell Fisher  1 , Randall Hansen  2 , Alex L Otto  2 , Kent McIntire  2 , Suporn Sukpraprut-Braaten  3   4
Affiliations
Review

Cardiovascular Findings in Klippel-Feil Syndrome: A Systematic Review

Abbigail Niewchas et al. Cureus. .

Abstract

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.

Keywords: cardiac; cardiovascular; congenital heart defect; kfs; klippel-feil syndrome.

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Conflict of interest statement

Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Intellectual property info: The American Board of Internal Medicine (ABIM) granted permission to adapt the cardiovascular disease examination blueprint into a table for this article. Relevant information can be found in the “Copyright and Examination Nondisclosure Information” listed under the table. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work.

Figures

Figure 1
Figure 1. PRISMA flow chart for article selection process
PRISMA: Preferred Reporting Items for Systematic Reviews and Meta-analyses
Figure 2
Figure 2. Percentage of case reports containing one or more cardiovascular finding(s) described in each category of the American Board of Internal Medicine's Cardiovascular Disease Examination Blueprint, or in the "other" category
CAD: Coronary artery disease; HF: heart failure; CHD: congenital heart disease; HTN: hypertension; HoTN: hypotension; PCD: pulmonary circulation disorders; SDACS: systemic disorders affecting the circulatory system
Figure 3
Figure 3. Breakdown of cases reporting one or more findings consistent with arrhythmia (n = 4) based on the Samartzis classification of Klippel-Feil syndrome
Figure 4
Figure 4. Breakdown of cases reporting one or more findings consistent with heart failure or cardiomyopathy (n = 4) based on the Samartzis classification of Klippel-Feil syndrome
Figure 5
Figure 5. Breakdown of cases reporting one or more findings consistent with valvular disease (n = 8) based on the Samartzis classification of Klippel-Feil syndrome
Figure 6
Figure 6. Breakdown of cases reporting one or more findings consistent with congenital heart disease (n = 33) based on the Samartzis classification of Klippel-Feil syndrome
Figure 7
Figure 7. Breakdown of cases reporting one or more findings consistent with vascular disease (n = 5) based on the Samartzis classification of Klippel-Feil syndrome
Figure 8
Figure 8. Breakdown of cases reporting one or more findings consistent with systemic hypertension or hypotension (n = 4) based on the Samartzis classification of Klippel-Feil syndrome
Figure 9
Figure 9. Case breakdown by cardiovascular disease category and biological sex
Figure 10
Figure 10. Fusion profile based on the Samartzis classification (n = 37)
Figure 11
Figure 11. Case breakdown by Samartzis classification based on biological sex (n = 36)
Figure 12
Figure 12. Cardiovascular findings according to the Samartzis classification
CAD: Coronary artery disease; HF: heart failure; CHD: congenital heart disease; HTN: hypertension; HoTN: hypotension; PCD: pulmonary circulation disorders; SDACS: systemic disorders affecting the circulatory system
Figure 13
Figure 13. Case breakdown based on the category of cardiovascular disease based on patient age
Figure 14
Figure 14. Breakdown of cases reporting one or more findings in one, two, or three categories of cardiovascular disease based on the Samartzis classification system (n = 46)
See this image and copyright information in PMC

References

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