Table 2

Results of the studies with CT scan and MRI in asymptomatic individuals with heterozygous FH

StudyFH subjects (n)Controls (n)Imaging techniqueResults
ten Kate et al316730 healthy subjectsCTCAPatients with FH had greater coronary calcium score.
Viladés Medel et al325070 healthy subjectsCTCAPatients with FH had a greater prevalence, extension and severity of subclinical CHD.
Ten Kate et al3359 patients with FH with null mutation86 patients with FH with reduced or normal LDLR functionCTCALDLR-negative patients had higher number of diseased coronary artery segments per patient.
Neefjes et al34140 patients with FH with follow-up scansCTCAAbout 54% of all coronary plaques were calcified.
Neefjes et al35101126 patients without FH having non-angina chest painCTCATotal calcium score was significantly higher in patients with FH.
Miname et al3610235 healthy subjectsCTCAPatients with FH had a significantly higher number of plaques, stenosis, segments with plaques and calcium scores.
Martinez et al378931 healthy subjects16 or 64 sliced CTCoronary artery calcification prevalence and severity were higher in FH.
Ye et al383234 healthy subjectsElectron-beam CTCoronary artery calcification was higher in FH.
Caballero et al393619 healthy subjectsMRI of aortaAtherosclerotic plaques in descending aorta were significantly higher in FH cases.
Soljanlahti et al403925 healthy subjectsMRI of aortaNo difference in any of the morphological or functional aortic parameters between patients and controls detected.
Schmitz et al411126 subjectsMRI of aortaThe descending thoracic aorta wall area was significantly larger in patients with FH.
  • CHD, coronary heart disease; CTCA, CT coronary angiography; FH, familial hypercholesterolaemia; LDLR, LDL-receptor gene.