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Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound (30/45MHZ) System
07:34

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Published on: May 5, 2018

RAS-MAPK pathway disorders: important causes of congenital heart disease, feeding difficulties, developmental delay

Emma M M Burkitt Wright1, Bronwyn Kerr

  • 1University of Manchester, Manchester Academic Health Science Centre, St Mary's Hospital, UK. bronwyn.kerr@cmft.nhs.uk

Archives of Disease in Childhood
|April 8, 2010
PubMed

Insights

Neuro-cardio-facio-cutaneous conditions (NCFCs) share common pediatric symptoms and stem from RAS-MAPK pathway gene mutations. This review aids in differentiating these disorders based on clinical features and genetic diagnosis for better patient outcomes.

Area of Science:

  • Genetics
  • Pediatrics
  • Molecular Biology

Background:

  • Neuro-cardio-facio-cutaneous conditions (NCFCs) present with overlapping symptoms in pediatric patients.
  • These rare disorders arise from germline mutations affecting the RAS-MAPK signaling pathway.

Purpose of the Study:

  • To review and summarize the spectrum of NCFCs.
  • To delineate commonalities and distinguishing features among NCFCs.
  • To emphasize the importance of accurate diagnosis and genetic confirmation.

Main Methods:

  • Literature review of NCFCs.
  • Comparative analysis of clinical presentations and genetic underpinnings.
  • Discussion of diagnostic criteria and management considerations.

Main Results:

  • NCFCs exhibit diverse clinical manifestations but share a common genetic pathway.
  • Specific phenotypic features can aid in differentiating between various NCFCs.
  • Genetic diagnosis is crucial for prognosis and management.

Conclusions:

  • Accurate clinical and molecular diagnosis of NCFCs is essential for appropriate patient care.
  • Understanding the genetic basis of NCFCs improves diagnostic precision.
  • Vigilance for specific complications associated with each NCFC is critical.

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