title: Coronary computed tomographic angiographic findings in asymptomatic patients with heterozygous familial hypercholesterolemia and null allele low-density lipoprotein receptor mutations.
abstract: Heterozygous familial hypercholesterolemia (HeFH) can be associated with early coronary artery disease (CAD) in asymptomatic patients. The objectives of the present study were to assess the prevalence and magnitude of subclinical CAD in patients with HeFH using coronary computed tomographic angiography (CCTA) and to determine the clinical and genetic profile of those at the greatest risk of CAD. The study included 50 consecutive patients with HeFH diagnosed according to the Dutch Lipid Clinic Network criteria and a control group of 70 healthy subjects. The findings from CCTA for the patients with HeFH were compared with those from the control group, who had been referred for CCTA as a part of a preventive medical examination. In 82% of the patients with HeFH, genetic DNA was screened for low-density lipoprotein receptor (LDLR) gene mutations using a microarray. CCTA revealed a significantly greater Agatston calcium score in the study group than in the control group (260 vs 46; p = 0.002). The prevalence of CAD in the patients with HeFH was 48%. It was significant in 26%, involving mainly the proximal segments of the coronary arteries. In the control group, the prevalence of CAD was 33% and was significant in 5% (p <0.05 for prevalence and severity of CAD compared to patients with HeFH). In those with HeFH, increased age, null allele LDLR mutations, and low high-density lipoprotein blood levels at diagnosis showed a statistically significant association with CAD (p <0.05). In conclusion, patients with HeFH present with a greater prevalence, extension, and severity of subclinical CAD than the general population. Increased age, low high-density lipoprotein levels, and LDLR null allele mutations are related to the occurrence of CAD. CCTA has emerged as a useful technique for the screening of subclinical CAD in patients with HeFH.
authors: Cardiac Imaging Unit, Cardiology Department, Universitat Autònoma de Barcelona, Barcelona, Spain. dvilades@santpau.cat
authors: David
authors: D
authors: Viladés Medel
authors: Rubén
authors: R
authors: Leta Petracca
authors: Francesc
authors: F
authors: Carreras Costa
authors: Montserrat
authors: M
authors: Cardona Olle
authors: Antonio
authors: A
authors: Barros Membrilla
authors: Jose Alberto
authors: JA
authors: Hidalgo Perez
authors: Sandra
authors: S
authors: Pujadas Olano
authors: Xavier
authors: X
authors: Alomar Serrallach
authors: Miquel
authors: M
authors: Franco Peral
authors: Guillem
authors: G
authors: Pons-Lladó
mesh_terms: D000367:Age Factors; D000483:Alleles; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D015897:Comorbidity; D003287:Contrast Media; D017023:Coronary Angiography / Q000379:methods*; D003324:Coronary Artery Disease / Q000000981:diagnostic imaging* / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000000981:diagnostic imaging* / Q000235:genetics*; D007472:Iohexol / Q000031:analogs & derivatives; D008055:Lipids / Q000097:blood; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D015995:Prevalence; D011973:Receptors, LDL / Q000235:genetics*; D012307:Risk Factors; D012720:Severity of Illness Index; D018709:Statistics, Nonparametric; D014057:Tomography, X-Ray Computed / Q000379:methods*
chemical_list: D003287:Contrast Media; D008055:Lipids; D011973:Receptors, LDL; C093233:iobitridol; D007472:Iohexol