From the Medical Literature - June 1999

Record  1
 
  The molecular basis of vascular disorders.
  Towbin JA; Casey B; Belmont J
  Baylor  College  of  Medicine,  Department  of  Pediatric Cardiology, One
Baylor Plaza, Houston, Texas 77030, USA [email protected]
  Am   J  Hum  Genet (UNITED  STATES)   Mar  1999,  64  (3)  p678-84,  ISSN
0002-9297   
  Languages: ENGLISH
  Document type: JOURNAL ARTICLE; REVIEW; REVIEW, TUTORIAL
  (31 Refs.)

Record  2

  Elastin mutation and cardiac disease.
  Chowdhury T; Reardon W
  Mothercare  Unit  of  Clinical  Genetics and Fetal Medicine, Institute of
Child Health, 30, Guilford Street, London WC1N 1EH, United Kingdom.
  Pediatr  Cardiol (UNITED  STATES)   Mar-Apr  1999,  20  (2) p103-7,  ISSN
0172-0643   
  Languages: ENGLISH
  Document type: JOURNAL ARTICLE; REVIEW; REVIEW, TUTORIAL

  Characterization  of  the  molecular  basis of structural cardiac disease
includes  elucidating  the  pathogenesis  of  certain  vascular  disease by
demonstrating  mutations  of  the  Elastin  gene  as  the cause of familial
supravalvular  aortic stenosis (SVAS) and Williams' syndrome (WS). Defining
the  etiology  of  SVAS  has clinical implications in terms of prenatal and
presymptomatic  diagnosis  and  possible  earlier intervention with medical
therapy.  This  review considers the evidence relating Elastin mutations to
SVAS  and  WS and outlines the possible mechanisms by which these mutations
give  rise  to  cardiac  disease.  Finally,  the implications which Elastin
mutation  identification  has  on  current  clinical  practice  and  future
research directions are considered.  (28 Refs.)

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