Abstract 12689: Targeted Exon Sequencing of Lipid-related Genes in Patients With Clinically Diagnosed Familial Hypercholesterolemia

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
Takeshi Okada ◽  
Masahiro Koseki ◽  
Makoto Nishida ◽  
Katsunao Tanaka ◽  
Hiroyasu Inui ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Ldl Receptor ◽  
University Hospital ◽  
Premature Coronary Artery Disease ◽  
Apolipoprotein C3 ◽  
Pathogenic Variants ◽  
History Of ◽  
Premature Cad ◽  
Artery Disease ◽  
Selection Of

Background: Familial hypercholesterolemia (FH) is at high risk of premature coronary artery disease (CAD). Japan Atherosclerosis Society (JAS) has published original criteria for FH. Patients are diagnosed clinical FH if at least 2 of the following criteria are satisfied: i) LDL-C ≥ 180 mg/dL, ii) Tendon/ skin xanthomas, iii) History of FH or premature CAD within 2nd degree blood relatives. Although it is easy to apply these criteria for FH-suspected patients, in fact, we are not sure whether other lipid-related genes may be overlapped in addition to those of conventional FH genes such as LDL receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9). Methods and Results: Ninety-one heterozygous FH (HeFH) patients in Osaka University Hospital, who met the clinical FH criteria of JAS were enrolled after obtaining informed consent. Genomic DNA for each patient was extracted from peripheral blood cells. Targeted exon sequencing was performed to investigate 36 lipid-related genes including conventional FH genes. We have defined pathogenic variants if they fulfilled i) rare protein truncating variants, ii) rare damaging missense variants, and iii) ClinVar-registered pathogenic or likely pathogenic variants. Among 91 HeFH patients (52.9 ± 14.7 years), 41 patients (45.1%) were males. We have identified LDLR pathogenic variants in 61 patients (67.0%) and PCSK9 variants in 1 patient (1.1%). Among these 62 patients, 22 patients (35.5%) additionally have pathogenic variants of other lipid-related genes, which include apolipoprotein E2 (APOE2) in 1 patient, apolipoprotein E4 (APOE4) in 10 patients, ATP-binding cassette subfamily G member 5 (ABCG5) in 2 patients, apolipoprotein C3 (APOC3) in 1 patient, and CD36 in 10 patients. As for remaining 29 patients without conventional FH gene variants, 13 patients (44.8%) have pathogenic variants of other lipid-related genes, which include APOE4 in 11 patients, apolipoprotein E5 (APOE5) in 1 patient, and variants of ABCG5 in 1 patient. Conclusion: We have identified several variants of lipid-related genes in addition to conventional FH genes in HeFH patients diagnosed according to JAS criteria. These variants may affect the atherogenicity of patients and selection of medication.

scholarly journals Premature Coronary Artery Disease and Familial Hypercholesterolemia: Need for Early Diagnosis and Cascade Screening in the Indian Population

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
N. Setia ◽  
I. C. Verma ◽  
B. Khan ◽  
A. Arora
Keyword(s):  
Heart Disease ◽  
Familial Hypercholesterolemia ◽  
Genetic Factors ◽  
Age Of Onset ◽  
Ldl Receptor ◽  
Premature Coronary Artery Disease ◽  
Cascade Screening ◽  
Cholesterol Levels ◽  
Premature Cad ◽  
Artery Disease

Cardiovascular disease (CVD) is the leading cause of death in India, accounting for 28% of mortality. The average age of onset of CVD is younger (below 55 years) among Indians than in other populations. This may be due to bad lifestyle, genetic factors, or both. Hypertension, smoking, diabetes, and physical inactivity have been identified as modifiable risk factors for heart disease. Hypercholesterolemia is the most common and treatable cause of heart disease. Genetic factors that lead to hypercholesterolemia have not been fully studied in India. Familial Hypercholesterolemia results from mutations in the LDL receptor, ApoB, PCSK9, and ApoE genes. There is an urgent need to screen subjects with premature CAD and their relatives in India for the presence of FH, identify the mutations that lead to high cholesterol, and carry out cascade screening in the at-risk relatives. Those harbouring mutations in the above genes can be treated to lower the cholesterol levels, prevent early CVD, and avoid death. A programme based on these lines has been initiated in Delhi.

Familial Hypercholesterolemia: Update and Review

2021 ◽  
Vol 21 ◽  
Author(s):  
Oscar Francisco Chacón Camacho ◽  
Glustein Pozo Molina ◽  
Claudia Fabiola Méndez Catalá ◽  
Julia Reyes Reali ◽  
René Méndez Cruz ◽  
...  
Keyword(s):  
Metabolic Disease ◽  
Familial Hypercholesterolemia ◽  
Genetic Screening ◽  
Population Studies ◽  
Premature Coronary Artery Disease ◽  
Ribonucleic Acids ◽  
Pathogenic Variants ◽  
The World ◽  
History Of ◽  
Artery Disease

Abstract: Knowledge of epidemiology, genetic etiopathogenesis, diagnostic criteria, and management of familial hypercholesterolemia have increased in the last two decades. Several population studies have shown that familial hypercholesterolemia is more frequent than previously thought, making this entity the most common metabolic disease with monogenic inheritence in the world. Identification of causal heterozygous pathogenic variants in LDLR, APOB, and PCSK9 genes have increased diagnostic accuracy of classical criteria (extreme hypercholesterolemia, personal / family history of premature coronary artery disease or other cardiovascular disease). Genetic screening has been recently introduced in many European countries to detect patients with familial hypercholesterolemia, mainly affected pediatric subjects, asymptomatic or those at the beggining of their disease, with the purpose of increasing surveillance and avoiding complications such as cardiovascular diseases. Cholesterol-lowering drugs should be started as soon as the diagnosis is made. Various combinations between drugs can be used when the goal is not achieved. New therapies, including small interference ribonucleic acids (siRNA) are being tested in different clinical trials.

scholarly journals Raet1e Polymorphisms Are Associated with Increased Risk of Developing Premature Coronary Artery Disease and with Some Cardiometabolic Parameters: The GEA Mexican Study

2018 ◽  
Vol 2018 ◽  
pp. 1-10 ◽  
Author(s):  
Rosalinda Posadas-Sánchez ◽  
Bladimir Roque-Ramírez ◽  
José Manuel Rodríguez-Pérez ◽  
Nonanzit Pérez-Hernández ◽  
José Manuel Fragoso ◽  
...  
Keyword(s):  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Premature Coronary Artery Disease ◽  
Functional Effect ◽  
Increased Risk ◽  
Family Medical History ◽  
History Of ◽  
Premature Cad ◽  
Artery Disease ◽  
First Time

In an animal model, new evidence has been reported supporting the role of raet1e as an atherosclerosis-associated gene. Our objective was to establish if raet1e polymorphisms are associated with the risk of developing premature coronary artery disease (CAD) or with the presence of cardiometabolic parameters. After an informatic analysis, five polymorphisms were chosen and determined in 1158 patients with premature CAD and 1104 controls using 5′ exonuclease TaqMan genotyping assays. Standardized questionnaires were applied to all participants to obtain family medical history, demographic information, history of nutritional habits, physical activity, alcohol consumption, and pharmacological treatment. The functional effect of the rs7756850 polymorphism was analyzed by luciferase assays. Under different models, adjusted by age, gender, body mass index, current smoking, and type 2 diabetes mellitus, the rs6925151 (OR=1.250, pheterozygote=0.026; OR=1.268, pcodominant1=0.034), rs9371533 (OR=1.255, pheterozygote=0.024), rs7756850 (OR=1.274, pheterozygote=0.016; OR=1.294, pcodominant1=0.031), and rs9383921 (OR=1.232, pheterozygote=0.037) polymorphisms were associated with increased risk of premature CAD. When compared to the rs7756850 G allele, the C allele showed a decreased luciferase activity. In premature CAD patients, associations with low levels of adiponectin, with a high presence of hypertension, and with high levels of gamma-glutamyltransferase and total cholesterol were observed. In healthy controls, associations with a decrease in LDL pattern B, aspartate aminotransaminase, and hypo-α-lipoproteinemia were detected. An association of the raet1e polymorphisms with an increased risk of developing premature CAD and with cardiometabolic parameters has been shown for the first time. In addition, the functional effect of the rs7756850 polymorphism was defined.

Abstract 14925: Inverse Association between Family History of Premature Coronary Artery Disease and the Risk of Death in Patients with Coronary Artery Disease

Circulation ◽  
2014 ◽  
Vol 130 (suppl_2) ◽  
Author(s):  
Ahmed Abdi Ali ◽  
Abdel Aziz Shaheen ◽  
Danielle A Southern ◽  
Mei Zhang ◽  
Merril Knudston ◽  
...  
Keyword(s):  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Family History ◽  
Clinical Characteristics ◽  
System Level ◽  
Premature Coronary Artery Disease ◽  
Inverse Association ◽  
History Of ◽  
Premature Cad ◽  
Artery Disease

Background: Family history (FHx) of premature coronary artery disease (CAD) is an established cardiovascular risk factor. However the impact of FHx on outcomes of patients with CAD is unclear. Methods & Results: The Alberta Provincial Project for Outcomes Assessment in Coronary Heart Disease (APPROACH) Program is an inclusive prospective registry of patients undergoing coronary angiography. Between April 2002 and Mar 2013, 99,667 patients were enrolled. 30,030 (30%) patients reported FHx, defined as a first degree relative with premature CAD (males <55, females <65 years). We investigated the association between FHx and all-cause mortality at 1 year, using multivariable logistic regression, adjusting for clinical characteristics, comorbidities, and the extent of CAD. Patients with normal angiography (15.2%) were excluded. Compared to those without FHx, those with FHx were younger (60.1 vs 64.0 years, p<0.0001), more likely female (30.5% vs 29.5%; p=0.0018), and were less likely to have previously diagnosed CAD, congestive heart failure, stroke, or chronic kidney disease (all p<0.0001) Conversely, those with FHx were more likely current smokers (31.8% vs 25.3%) and to have hypertension (68.8% vs 65.5%) and dyslipidemia (75.7% vs 68.1%), all p<0.0001). The indication for angiography was an acute coronary syndrome (ACS) in 55% of both groups (p=0.57), and the extent of CAD was similar. Overall, FHx was associated with reduced 1-year mortality in fully adjusted models (odds ratio [OR] 0.56, 95% CI 0.51 to 0.62). This protective association was present in patients with and without a previous CAD event (OR 0.66 [95% CI 0.60 to 0.78] vs 0.53 [95% CI 0.47 to 0.59], respectively), and in patients with and without an ACS (OR 0.56 [95% CI 0.50 to 0.63] vs 0.56 [95% CI 0.48 to 0.65], respectively). There was slight attenuation of association with age, but FHx remained protective even in those aged 80 or more (OR 0.72, 95% CI 0.57 to 0.90). Conclusion: In patients with angiographic CAD, a family history of premature CAD is associated with lower mortality, independent of clinical characteristics, mode of presentation, and extent of disease. Further investigation of potential patient- and system-level mediators of this seemingly paradoxical relationship is required.

Cardiovascular risk and missed opportunities for treatment in patients with type 2 diabetes presenting with very premature coronary artery disease

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
D Vikulova ◽  
C Brown ◽  
E Theberge ◽  
G.B.J Mancini ◽  
S.N Pimstone ◽  
...  
Keyword(s):  
Ldl Cholesterol ◽  
Hdl Cholesterol ◽  
Premature Coronary Artery Disease ◽  
Funding Source ◽  
Newly Diagnosed ◽  
History Of ◽  
Premature Cad ◽  
Artery Disease ◽  
Time Of Presentation

Abstract Background Type 2 diabetes mellitus (T2D) is a major cardiovascular risk factor (CVRF), and comprehensive risk factor management reduces the incidence of cardiovascular events. Purpose To assess 1) prevalence of T2D among patients presenting with newly diagnosed very premature coronary artery disease (CAD) and its impact on CVRFs and extent of atherosclerosis; 2) effectiveness of glucose and lipid control in T2D patients before presentation with CAD. Methods We studied patients with angiographically proven CAD with stenosis of ≥50% who presented at the age of ≤50 years for males and ≤55 years for females. Diabetes was defined as fasting plasma glucose ≥7 mmol/L, haemoglobin (Hb)A1C ≥6.5% or diagnosis or treatment of T2D before or at presentation with CAD. CVRFs were defined as dyslipidemia, hypertension, obesity, current smoking, and family history of premature cardiovascular disease (CVD). Values are reported as mean (±SD), median (interquartile range) or percentages. Results From 417 premature CAD patients, 112 (26.9%) had T2D at the time of presentation with CAD. In 27 (24.1%) patients, T2D was newly diagnosed at presentation with CAD. Age of diagnosis of T2D was 41.3 (±6.9) years old. Patients with T2D had higher prevalence of dyslipidemia (83.0% vs 63.3%, p&lt;0.001), hypertension (65.2% vs 40.3%, p&lt;0.001), and obesity (56.3% vs 34.8%, p&lt;0.001), higher cumulative number of CVRFs per person (2.8 (±1.2) vs 2.0 (±1.2), p&lt;0.001) and less favourable lipid profiles, with higher levels of triglycerides (3.3 (2.1–4.7) vs 2.3 (1.5–3.4) mmol/L, p=0.001) and lower HDL-cholesterol (0.9 (±0.3) vs 1.1 (±0.3) mmol/L). Prevalence of smoking (32.1% vs 24.9%, p=0.14) and family history of premature CVD (43.8% vs 39.7%, p=0.45), levels of LDL-cholesterol (3.7 (±1.4) vs 3.8 (±1.2) mmol/L, p=0.23) and lipoprotein(a) (206 (99–819) vs 200 (99–700) mg/L, p=0.57) were not significantly different between groups. T2D patients had a greater prevalence of 3-vessel disease (35.7% vs. 22.2%, p=0.006) and were less likely to receive revascularization (70.5% vs 83.9%, p=0.002). Prior to presentation with CAD, 31 (27.7%) of T2D patients received insulin, 42 (37.5%) received oral hypoglycemic drugs, and 12 (10.7%) received no pharmacological treatment for diabetes. Only 23 (27.1%) of them achieved HbA1C ≤7% at the time of presentation with CAD (Figure 1). Among all T2D patients, 35 (31.3%) received treatment with statins and 16 (14.3%) reached guideline-recommended lipid targets of LDL cholesterol ≤2 mmol/L and/or non-HDL cholesterol ≤2.6 mmol/L. Conclusion Among patients with very premature CAD, T2D was common, was previously unrecognized in up to one quarter, and was associated with a greater burden of CVRFs and more extensive CAD at presentation. Few patients with T2D achieved guideline-recommended lipid or glucose targets. These data point to the need for improvements in screening and comprehensive CVRF treatment of T2D in order to reduce the burden of premature CAD. Figure 1 Funding Acknowledgement Type of funding source: Public grant(s) – National budget only. Main funding source(s): Canadian Institutes of Health Research. St. Paul's Hospital Foundation and the Vancouver General Hospital Foundation

Abstract 11661: A Family History of Premature Coronary Artery Disease is Associated With Location and Severity of Angiographically Defined Coronary Artery Stenosis

Circulation ◽  
2014 ◽  
Vol 130 (suppl_2) ◽  
Author(s):  
Muhammad Hammadah ◽  
Riyaz S Patel ◽  
Danny J Eapen ◽  
Ayman Samman Tahhan ◽  
Nima Ghasemzadeh ◽  
...  
Keyword(s):  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Family History ◽  
Premature Coronary Artery Disease ◽  
Left Main ◽  
Vessel Stenosis ◽  
History Of ◽  
Female Relative ◽  
Premature Cad ◽  
Artery Disease

Introduction: A family history (FH) of premature coronary artery disease (CAD) is an important prognostic risk factor. Emerging evidence suggests that CAD location as well as severity may be heritable. We sought to investigate the association between a FH of premature CAD with the location and severity of angiographically phenotyped CAD. Methods: 2854 patients undergoing coronary angiography were enrolled from the Emory Cardiovascular Biobank. A FH of CAD was defined as having any male or female relative with history of CAD at age ≤55 or ≤65 year old respectively. Coronary angiograms were phenotyped using a 17 segment AHA model. Proximal disease was defined as having ≥70% lesion in the left main or proximal portion of any of the three major epicardial arteries, while CAD severity was assessed by counting the number of vessels with ≥70% stenosis. Results: Among this population (mean age 63±12, male 67%, diabetes 33%), 21% reported a positive FH of premature CAD. After adjustment for age, gender, and traditional cardiovascular risk factors, those with a positive FH were more likely to have significant CAD than those without a positive FH (OR 1.3 (1.1-1.7)). They were 40% more likely to have single vessel (OR 1.4(1.1-1.7)) and up to 80% more likely to have multi-vessel disease (OR 1.8 (1.4-2.4)). In addition, they were also much more likely to have left main (OR 1.9 (1.3-2.8)) and proximal vessel involvement (OR 1.5 (1.2 - 1.9)), but not distal vessel stenosis (OR 1.1 (0.9-1.4)). Conclusions: A FH of CAD is associated with a greater likelihood of multi-vessel and proximal anatomical disease. Whether site specific disease is genetically mediated remains to be explored.

P3412Risk factors, biomarkers and framingham risk estimate fail to identify presence of subclinical atherosclerosis in young individual with family history of premature coronary artery disease

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
S Ghadiri ◽  
J Leipsic ◽  
N Elahi ◽  
M Anastasius ◽  
A Huang ◽  
...  
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
Family History ◽  
Subclinical Atherosclerosis ◽  
Calcium Score ◽  
Premature Coronary Artery Disease ◽  
Framingham Risk ◽  
History Of ◽  
Premature Cad ◽  
Artery Disease

Abstract Introduction Patients with family history of premature coronary artery disease (CAD) are at increased risk of CAD events at a younger age. Risk factor based approaches and clinical evaluation are most commonly used to assess these individuals. However, it has been recently shown that up to 50% of individual presenting with their first myocardial infarction (MI) were considered to be “low risk” prior to that event. MI is often a result of plaque rupture preceded by progression of subclinical atherosclerosis. Detection of subclinical atherosclerosis may therefore help target prevention of plaque progression. We assessed the value of clinical risk factor, biomarkers and Framingham Risk Score (FRS) in predicting subclinical atherosclerosis in individuals with a family history of premature CAD. Methods From 310 referrals, 222 individuals between the ages of 35 and 55 with a family history of premature CAD (CAD events in first-degree family members (male <55, female <65)) were enrolled for evaluation of risk of CAD. Those with familial hypercholesteremia (possible, probable or definite) were excluded. Patients underwent clinical and risk factor evaluations as well as Cardiac CT or Calcium Score (CS) to assess presence of subclinical / clinical atherosclerosis at the discretion of the treating physician. Results In this pilot, 141 individuals (59% male, mean age 45.9±6.0 years) completed evaluation, and 65 (46%) had evidence of subclinical atherosclerosis on CT coronary angiography or CT calcium score with a mean segment involvement score (SIS) of 2.8 and mean CS of 152, putting them above the 80th percentile for their age and sex. Aside from male sex, age, and smoking history, other traditional risk factors and biomarkers including diabetes mellitus, hypertension, total cholesterol, LDL-C, HDL-C and Cholesterol/HDL-C were not significantly different between those with or without subclinical atherosclerosis (Table 1). Table 1 Conclusion In young individuals with a family history of premature CAD, risk factors, biomarkers, and FRS failed to identify individuals with premature, subclinical atherosclerosis in this pilot study. Detection of subclinical atherosclerosis and early implementation of treatment with the aim of stabilizing plaques and stopping progression might prove vital in reducing events in these individuals. Further studies are warranted.

scholarly journals Assessment of endothelial dysfunction in young healthy first-degree relatives with family history of premature coronary artery disease using vascular doppler ultrasonography

2019 ◽  
Vol 7 (5) ◽  
pp. 1626
Author(s):  
Vinod Khandait ◽  
Chandrashekhar Atkar
Keyword(s):  
Family History ◽  
Endothelial Dysfunction ◽  
Brachial Artery ◽  
Doppler Ultrasonography ◽  
Premature Coronary Artery Disease ◽  
Non Invasive ◽  
First Degree Relatives ◽  
History Of ◽  
Premature Cad ◽  
Artery Disease

Background: Endothelial dysfunction in young healthy first-degree relatives with family history of premature coronary artery disease was assessed in the present study using vascular doppler ultrasonography.Methods: Thirty young (10-40 years) first degree relatives of 17 patients with premature CAD without risk factors were selected for the study. Age and gender matched healthy subjects were enrolled as controls. Non- invasive assessment of endothelial dysfunction was done by vascular doppler study of brachial artery. Brachial artery diameter, velocity and blood flow were estimated in every study subject and control at rest, after stress and again at rest and after glyceryl-trinitrate (GTN) by vascular Doppler ultrasonography.Results: The percent rise in lumen diameter of brachial artery after stress i.e. reactive hyperaemia, labelled as percent rise in flow mediated dilatation (FMD), was significantly lower in family history group than in controls (8.42±3.47% vs 12.22±4.31%, p<0.05). The statistically significant difference in percent rise in FMD was observed to be consistent across different ages/genders (p<0.05). The mean percent rise in FMD among family history group with positive maternal history (8.06±3.65) was lower as compared to those with positive paternal history (8.57±3.12), but the difference was not statistically significant (p>0.05).Conclusions: Apparently healthy young subjects with family history of premature CAD have impaired endothelium dependent FMD in systemic circulation. Simple, non-invasive, cost-effective vascular doppler ultrasonography is recommended as a potential screening tool to detect subclinical atherosclerosis.

scholarly journals Mutational Spectrum of LDLR and PCSK9 Genes Identified in Iranian Patients With Premature Coronary Artery Disease and Familial Hypercholesterolemia

2021 ◽  
Vol 12 ◽  
Author(s):  
Arman Moradi ◽  
Majid Maleki ◽  
Zahra Ghaemmaghami ◽  
Zahra Khajali ◽  
Feridoun Noohi ◽  
...  
Keyword(s):  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Familial Hypercholesterolemia ◽  
Genetic Disorder ◽  
Premature Coronary Artery Disease ◽  
Double Mutation ◽  
The Family ◽  
Premature Cad ◽  
Artery Disease ◽  
Iranian Patients

Familial hypercholesterolemia (FH) is a common, yet underdiagnosed, genetic disorder characterized by lifelong elevated low-density lipoprotein cholesterol levels, which can increase the risk of early-onset coronary artery disease (CAD). In the present study, we screened the nucleotide variations of the LDLR and PCSK9 genes, as well as a part of the APOB gene, in Iranian patients with FH and premature CAD to find the genetic cause of the disorder. Fifteen unrelated individuals with a clinical diagnosis of FH and premature CAD were recruited. Direct DNA sequencing was applied to screen the whole coding exons and exon–intron boundaries of the LDLR and PCSK9 genes and the main parts of their introns, together with exon 26 of the APOB gene. The pathogenicity of the identified mutations was investigated via either segregation analyses in the family or in silico predictive software. Six different point mutations (p.Cys148Tyr, p.Cys216Tyr, p.Cys302Trp, p.Cys338Trp, p.Leu479Gln, and p.G593Afs∗72) in LDLR and a double mutation (p.Asp172His and p.Ala53Val) in both LDLR and PCSK9 genes were identified in seven families with clinically diagnosed FH (43%), whereas no pathogenic mutations were found in eight families with clinically diagnosed FH. This study is the first to identify 1 pathogenic mutation in the LDLR gene (c.1014C &gt; G [p.Cys338Trp]) and to cosegregate it from the affected individual in the family. No mutations were found in the APOB gene, whereas several silent mutations/polymorphisms were identified in the LDLR and PCSK9 genes. Genetic testing and reports on nucleotide alterations in the Iranian population are still limited. Our findings not only further confirm the significant role of FH in the incidence of premature CAD but also enlarge the spectrum of LDLR and PCSK9 variations and exhibit the heterogeneity of FH in Iranians. In patients with no mutation in the examined genes, the disease could be begotten either by a polygenic cause or by gene defects occurring in other related genes and regions not targeted in this study.

Family history of premature coronary artery disease is not associated with coronary artery calcification

2021 ◽  
Vol 28 (Supplement_1) ◽  
Author(s):  
G Koulaouzidis ◽  
D Charisopoulou
Keyword(s):  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Family History ◽  
Coronary Artery Calcification ◽  
Premature Coronary Artery Disease ◽  
History Of ◽  
Premature Cad ◽  
The Mean ◽  
Artery Disease ◽  
Asymptomatic Individuals

Abstract Funding Acknowledgements Type of funding sources: None. Background Controversy exists regarding the association of family history(FH) of premature coronary artery disease (CAD) with coronary artery calcification (CAC). The purpose of this study was to assess the potential association between family history of premature CAD (&lt;55 years in first-degree male relatives and &lt;65 years in first-degree female relatives) and CAC. Methods A retrospective study of 3613 asymptomatic individuals who underwent assessment of CAC score (CACs) according with the Agatston method. Individuals were selected based on the presence or absence of FH of premature CAD. Individuals with history of hypercholesterolaemia, hypertension, diabetes mellitus or obesity (BMI&gt; 30), smokers (current or previous) were excluded. Furthermore, we excluded subjects with late-onset family history of CAD (&gt;55 years in first-degree male relatives and &gt;65 years in first-degree female relatives). Results Mean age of the cohort was 50.4 ± 9.5 year (74.6% males) and 15.6% reported FH in a parent, sibling or both (prevalence was 12.8% in parents only, 1.9% in siblings only and 0.9% in both parents and siblings). The prevalence of CAC was similar in individuals with FH (35%) and those without (36%), p = 0.2; with no difference in the mean CACs between the two groups, p = 0.4 (Table 1). Individuals with FH in parents only or siblings only had a similar incidence of CAC compared to those without FH (p = 0.9 and 0.7, respectively), with no difference in the mean CACs, p= 0.9 in both. Additionally, the incidence of CAC was not different in individuals with FH in both parents and siblings compared to those without FH (p= 0.1) and again there was no difference in the mean CACs (p = 0.6). Conclusion In asymptomatic individuals with none of the conventional risk factors for atherosclerosis, there was no relationship between the incidence and extent of CAC and the presence of FH of premature CAD. CAC distribution based on FH of CAD No FH Yes FH FH in parents only FH in siblings FH in both Number 3047 566 464 68 34 Males 74.8% 73.3% 74.3% 69.1% 67.7% Age (mean ± SD) 52 ± 9.6 46.9 ± 8.2 46.6 ± 8.1 49.5 ± 8.4 47.3 ± 8.2 Prevalence of CAC 35% 36% 35.2% 36.7% 41% Log-transformed CACs (± SD) 0.5 ± 0.8 0.5 ± 0.8 0.5 ± 0.8 0.5 ± 0.8 0.7 ± 0.9

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