title: Case report: low circulating IGF-I levels due to Acid-Labile Subunit deficiency in adulthood are not associated with early development of atherosclerosis and impaired heart function.
abstract: OBJECTIVE
  Decreased insulin-like growth factor-I (IGF-I) levels in adults have been associated with an increased risk of ischemic heart disease and heart failure. It is currently unknown whether patients with low circulating IGF-I levels due to a homozygous acid-labile subunit (IGFALS) gene mutation also have increased risk of cardiovascular disease. Therefore, we evaluated atherosclerotic burden in a 27 year old male patient who was diagnosed with a homozygous IGFALS mutation and consequently had extremely low circulating IGF-I levels.
  
  
  METHODS
  Ten year's cardiovascular risk was calculated using the Framingham risk score. Presence of (subclinical) atherosclerosis was assessed using a 64-slice CT scan of the coronary arteries. Cardiac performance was measured by conventional echocardiographic measurements, three dimensional (3D)-echocardiography, and tissue deformation imaging.
  
  
  RESULTS
  Despite his extremely low circulating IGF-I levels due to Acid-Labile Subunit (ALS) deficiency, our patient had a low Framingham risk score and no signs of coronary atherosclerosis. Adjusted for physical height, cardiac performance was not impaired compared with healthy subjects.
  
  
  CONCLUSIONS
  The present case report does not lend support to routine cardiovascular screening in patients with extremely low circulating IGF-I levels due to a homozygous IGFALS mutation, when cardiovascular risk is low.
authors.affiliation: Department of Vascular Medicine, Academic Medical Center/University of Amsterdam, Amsterdam, The Netherlands. k.l.rensing@amc.uva.nl
authors.forename: K L
authors.initials: KL
authors.lastname: Rensing
authors.forename: H A
authors.initials: HA
authors.lastname: van Duyvenvoorde
authors.forename: M J
authors.initials: MJ
authors.lastname: Cramer
authors.forename: A J
authors.initials: AJ
authors.lastname: Teske
authors.forename: M
authors.initials: M
authors.lastname: Prokop
authors.forename: E S
authors.initials: ES
authors.lastname: Stroes
authors.forename: J M
authors.initials: JM
authors.lastname: Wit
authors.forename: A R M M
authors.initials: AR
authors.lastname: Hermus
authors.forename: Th B
authors.initials: TB
authors.lastname: Twickler
mesh_terms: D000328:Adult; D050197:Atherosclerosis / Q000097:blood / Q000209:etiology*; D002352:Carrier Proteins / Q000235:genetics*; D006023:Glycoproteins / Q000172:deficiency* / Q000235:genetics*; D006333:Heart Failure / Q000097:blood / Q000209:etiology*; D006720:Homozygote; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000378:metabolism*; D008297:Male; D009154:Mutation / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D006023:Glycoproteins; C075944:insulin-like growth factor binding protein, acid labile subunit; D007334:Insulin-Like Growth Factor I