Klippel-Feil Syndrome and Congenital Heart Disease

Introduction:
Klippel-Feil Syndrome (KFS) is a rare skeletal disorder characterized by the congenital fusion of cervical vertebrae. While primarily affecting the spine, emerging studies highlight its association with congenital heart disease (CHD). This article explores findings from a recent study on five KFS cases involving CHD, shedding light on diagnostic and management challenges. Visit https://www.cardiologymedjournal.com/jccm for more groundbreaking research in this field.

Key Findings:

• Prevalence: KFS is estimated to occur in 1 in 40,000–42,000 births, with a slight female predominance.
• Clinical Features: Patients typically present with a short neck, low hairline, and limited cervical spine mobility. CHD was identified in all five cases studied.
• Congenital Heart Defects Identified:
  • Total anomalous pulmonary venous return (TAPVR)
  • Atrial septal defect (ASD)
  • Transposition of the great arteries (D-TGA)
  • Pulmonary stenosis (PS)
  • Tetralogy of Fallot (TOF)

Broader Implications in Medical Research:
The American College of Cardiology emphasizes the importance of early screening for congenital heart defects in patients with skeletal syndromes to improve long-term outcomes. Comprehensive multidisciplinary care is crucial to managing KFS-associated CHD effectively.

Accessing Full Research Findings:
Read the full study at https://doi.org/10.29328/journal.jccm.1001050. Additional related research articles can be found in our cardiology journal archives here.

Conclusion and Call to Action:
Raising awareness of KFS and its association with CHD can aid in early diagnosis and intervention. Explore more studies at https://www.cardiologymedjournal.com/jccm and join the conversation by sharing your thoughts in the comments below!

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