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Unicuspid aortic valve, hand anomalies: a heart-hand syndrome

Sudip Nanda1, Santo Longo, Mohammad I Arastu

  • 1Department of Internal Medicine, Saint Luke's Hospital, Bethlehem, Pennsylvania, USA. sudipnanda2000@yahoo.com

The American Journal of the Medical Sciences
|January 22, 2010
PubMed

Insights

Embryonic heart and limb development share genetic links, with over 100 inherited disorders affecting both. Limb abnormalities, especially upper limb defects, often correlate with heart conditions, necessitating cardiac evaluation.

Area of Science:

  • Developmental Biology
  • Genetics
  • Clinical Medicine

Background:

  • Embryonic heart and limb development are intricately linked, with over 100 inherited disorders known to affect both systems.
  • Common limb defects include duplication, deficiencies, and hypoplasia, frequently associated with cardiac conditions like ventricular and atrial septal defects.

Observation:

  • A positive association exists between heart defects and limb disorders, with stronger correlations observed between cardiac anomalies and upper limb defects compared to lower limb defects.
  • Limb malformations predominantly occur in distal limb segments.
  • Genes such as TGF-beta, BMP4, Msx transcription factors, HAND genes, retinoic acid receptors, and sonic hedgehog are crucial for both heart and limb development.

Findings:

  • Radial ray-heart syndromes are more extensively documented than ulnar ray-hand syndromes.
  • Significant variability in malformations is noted, with documented partial phenocopies.
  • Ulnar anomalies warrant cardiac evaluation due to potential underlying heart abnormalities.

Implications:

  • Heart-hand syndromes, though rare, can lead to serious complications like valvular abnormalities and aortic aneurysms if not identified promptly.
  • The presence of radial or ulnar ray anomalies necessitates a thorough cardiac examination and a low threshold for cardiac imaging to detect potential abnormalities early.

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