PMID: 9545093Apr 17, 1998Paper

Correlated heart/limb anomalies in Mendelian syndromes provide evidence for a cardiomelic developmental field

American Journal of Medical Genetics
G N Wilson

Abstract

Coordinated development of heart and limbs is suggested by a review of human abortus, chromosomal, and teratogenic syndromes, and characterized by an analysis of Mendelian disorders that affect the limbs, heart, or both (672, 202, or 107, respectively). Mendelian syndromes with altered limb patterns often include cardiac anomalies, as shown by limb duplications (34%), deficiencies (30%), hypoplasias (23%), or dysplasias (9.3%). Syndromes with particular cardiac anomalies, illustrated by VSD (85%) or ASD (90%), frequently include limb defects. Positional correlations of anterior (preaxial/conotruncal), posterior (postaxial/atrial), or lateral (mirror hand/atrial isometry) heart/limb anomalies are consistent with the existence of a cardiomelic developmental field. Vertebrate comparisons suggest an early D-V limb-heart gradient, influenced by the neural crest, with distal limb segments (80% of syndromic defects) at its dorsal extreme. The proposed cardiomelic field relates the genetic heterogeneity of disorders such as Holt-Oram syndrome to a cascade of molecules, including the brachyury, sonic hedgehog, bone morphogenetic protein, retinoic acid receptor, and transforming growth factor-beta families.

Citations

Mar 17, 1999·Proceedings of the National Academy of Sciences of the United States of America·M D Schneider, R J Schwartz
Jan 22, 2010·The American Journal of the Medical Sciences·Sudip NandaMohammad I Arastu
Apr 6, 2005·American Journal of Medical Genetics. Part a·Nathalie Le MeurAnnick Rossi
Sep 10, 2004·Clinical Genetics·D IsphordingH-G Simon
Oct 7, 2009·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Leonie Du PuyRobert Passier
Jan 17, 2013·American Journal of Medical Genetics. Part a·Niklas PakkasjärviOuti Mäkitie
Aug 2, 2011·Developmental Biology·Mollie R Johnson Sorrell, Joshua S Waxman
Jul 8, 2000·Indian Journal of Pediatrics·M N Muranjan, B A Bharucha

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