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Familial defective apolipoprotein B-100 in hypercholesterolemic patients in Poland
Thursday June 29, 2000: Read by 1~tleAbstracts T:W37 Other Topics
322
T:W35
MONOGENIC HYPERLIPIDEMIA
I ThT2:W37 [ Differences between first episode and recurrent coronary
disease I ThT1 :~/35 I Familial defective apolipoprotein B-100 in
hypercholesterolemic patients in Poland M. Bednarska-Makaruk 1, M. Bisko I , M.E Pulawska2, D. Hoffman-ZacharskaI , M. Rodo I , M. Roszczynko2, A. Solik-Tomassi 2, G. Broda 2, M. Polakowska2, A. Pytlak 2, H. Wehr 1. llnstitute of Psychiatry
and Neurology; 2National Institute of Cardiology, Warsaw, Poland Defects of a ligand domain of apolipoprotein B-100 (apo B) for the low density lipoprotein (LDL) receptor results in hypercholesterolemia and premature atherosclerosis. The most common mutation is an arginine to glutamine substitution in position 3500. The aim of the study was to evaluate the prevalence of the familial defective apolipoprotein B-100 (FDB) Arg350oGln mutation in hypercholesterolemic Polish subjects. A group of 525 unrelated patients with moderate and severe hypercholesterolemia (LDL cholesterol level > 160 mg/dl) without (group HA; n = 351) or with (groupIIB; n = 174) mild hypertriglyceridemia was screened for the presence of FDB mutation using SSCP analysis according to Chaves (1996). Presence of the Arg3500Gln mutation was confirmed using a mismatch Mspl PCR strategy according to Defesche (1993). FDB mutation was detected in 13 unrelated subjects and in 23 of 67 their relatives. All the probands belonged to the IIA group. Plasma lipid levels and clinical characteristics of 36 carriers of the Arg350oGln mutation were analysed and compared with their 44 nonaffected relatives. In the affected individuals a variable expression of lipid concentrations and atherosclerosis symptoms were observed. In one hypercholesterolemic subject with early CAD symptoms a non-hitherto described mutation in apo B gene was identified using DNA sequencing. The C ---, T transition in codon 3492 (ACT --, ATT) which is producing a change from threonine to isoleucine in the encoded amino acid sequence was found. In summary, our study showed that the prevalence of the Arg3500Gln mutation in Polish hypercholesterolemic patients was 3.7% which was similar to several other European countries.
A. Batalla I , G.I. Cubero2, J.J.R. Reguero2, S. Hevia 2, E. Merino 2, J.C. Sanmarffn 2, A. Cortina2 . Department of Cardiology;/Hospital de
Cabue~es (Gij6n); 2Hospital Central de Asturias (Oviedo), Spain Purpose: To determine whether differences exist in the morbi-mortality of patients under 50 years of age with coronary disease in the first episode or recurrent coronary disease. Methods: Consecutively, 227 male patients before 50 years of age (mean age 43 4- 5 years), who were admitted to our Coronary Care Unit as result of an episode of coronary disease, were prospectively studied. A mean follow-up of 32 4- 13 months was made with special attention to the presence of coronary events. Two groups were established depending on whether it was (Group A) their first episode of coronary disease or not (Group B). For statistical analysis, the Chi-Square test was employed for the comparison of percentages.
Results:
Events Angina Revascularisation
GroupA (n = 153) 48 (31%) 43 (28%) 37 (24%)
GroupB (n = 74) 42 (57%) 39 (53%) 39 (53%)
p 0.002 0.003 0.0001
No differences were found in relation to heart failure, myocardial infarction or mortality. Conclusions: Patients with a first clinical episode of coronary disease before 50 years of age present during follow-up fewer episodes of angina and less need for coronary revascularisation than these with various previous clinical episodes. i ThT3:W37 1 Control of risk factors in early-onset coronary disease A. Batalla I , G.I. Cubero 2, J.J.R. Reguero2, S. Hevia2, E. Merino2, J.C. Sanmartfn2, A. Cortina2 . Department of Cardiology;/Hospital de Cabue
~es (Gij6n); 2Hospital Central de Asrurius ( Oviedo ), Spain T:W37
O T H E R TOPICS
I ThT1 :V~/37 ] The importance of the ejection
fraction in the prognosis of
early-onset coronary disease A. Batalla 1, G.I. Cubero2, J.J.R. Reguero2 , S. Hevia2, J.C. Sanmartin 2 , E. Merino2, A. Cortina2 . Department of Cardiology;/Hospital de Cabuehes
(Gij6n) ; 2Hospital Central de Asturias (Oviedo), Spain Purpose: To determine whether the ejection fraction is a prognosis predictor in early onset coronary disease. Methods: Consecutively, 230 male patients before 50 years of age (mean age 43 4- 5 years), who were admitted to our Coronary Care Unit as result of an episode of coronary disease, were prospectively studied. In the acute phase by means of a structured questionnaire the presence of smoking habits, hypertension, diabetes and dyslipemia were determined. A physical examen and fasting analysis were also made. Due to clinical inestability or persistent myocardial ischemia 140 patients underwent a cadiac catheterism. According to left ventricular ejection fraction (LVEF) was greater to or minor than 60%, patients were divided into 2 groups. A mean follow-up of 32 4- 13 months was made. For statistical analysis, the Chi-Square test with Fisher's test was applied.
Results:
Normal Coronariography Mortality Heartfailure
Purpose: To determine the level of control of the principal risk factors in patients with early onset coronary disease. Methods: Consecutively, 230 male patients before 50 years of age (mean age 43 4- 5 years), who were admitted to our Coronary Care Unit as result of an episode of coronary disease (166 myocardial infarction, 64 unstable angina), were prospectively studied. Smoking habits, arterial hypertension, diabetes and dyslipemia were determined by means of a questionnaire, physical examen and fasting analysis during the acute phase ans during a mean follow-up of 32 4- 13 months.
Results: Smokers Hypertension Diabetes Dyslipemia
Acutephase 169 (73%) 84 (36%) 2l (9%) 181 (77%)
Follow-up 45 (20%) 76 (34%) 22 (10%) 172(75%)
Conclusions: In early onset coronary disease smoking is the risk factor which is better controlled during the follow-up. However, an improvement in the lipid profile of these patients is not seen.
ThT4:W37 I Characteristics of normolipemic patients with early-onset LVEF< 60% (n = 50) I (2%)
LVEF> 60% (n = 90) 12(15%)
p 0.01
7 (14%) 6 (12%)
2 (2%) 0 (0%)
0.01 0.001
No differences were found in the prevalence of hypertension, smoking habits, diabetes and dyslipemia. Nor were there any difference in the appearance of angina, myocardial infarction and the need for coronary revascularisation in the follow-up. Conclusions: Patients with early-onset ischemic heart disease and LVEF >__ 60% present a greater prevalence of normal angiograms, less episodes of heart failure and minor mortality in the follow-up.
coronary disease A. Batalla 1, G.I. Cubero2, J.J.R. Reguero2 , S. Hevia 2, E. Merino 2, J.C. Sanmartin2, A. Cortina2. Department of Cardiology;/Hospital de
Cabue~es (Gij6n); 2Hospital Central de Asturius (Oviedo), Spain Purpose: To determine common characteristics of patients under 50 years of age with coronary disease and with normal lipid profile. Methods: Consecutively, 229 male patients before 50 years of age (mean age 43 -¢- 5 years), who were admitted to our Coronary Care Unit as result of an episode of coronary disease, were prospectively studied. Smoking habits, arterial hypertension, diabetes and dyslipemia were determined during the acute phase by means of a questionnaire, physical examen and fasting analysis. Cardiac catheterism was made in 132 patients due to poor clinical control or persistent myocardial infarction. We considered as normolipemia a Total cholesterol-HDL cholesterol ratio (Tchol/HDL) less than or equal to 5. Two groups were established on the basis of such. In order to determine new
Xllth International Symposium on Atherosclerosis, Stockholm, Sweden, June 25-29, 2000
322
T:W35
MONOGENIC HYPERLIPIDEMIA
I ThT2:W37 [ Differences between first episode and recurrent coronary
disease I ThT1 :~/35 I Familial defective apolipoprotein B-100 in
hypercholesterolemic patients in Poland M. Bednarska-Makaruk 1, M. Bisko I , M.E Pulawska2, D. Hoffman-ZacharskaI , M. Rodo I , M. Roszczynko2, A. Solik-Tomassi 2, G. Broda 2, M. Polakowska2, A. Pytlak 2, H. Wehr 1. llnstitute of Psychiatry
and Neurology; 2National Institute of Cardiology, Warsaw, Poland Defects of a ligand domain of apolipoprotein B-100 (apo B) for the low density lipoprotein (LDL) receptor results in hypercholesterolemia and premature atherosclerosis. The most common mutation is an arginine to glutamine substitution in position 3500. The aim of the study was to evaluate the prevalence of the familial defective apolipoprotein B-100 (FDB) Arg350oGln mutation in hypercholesterolemic Polish subjects. A group of 525 unrelated patients with moderate and severe hypercholesterolemia (LDL cholesterol level > 160 mg/dl) without (group HA; n = 351) or with (groupIIB; n = 174) mild hypertriglyceridemia was screened for the presence of FDB mutation using SSCP analysis according to Chaves (1996). Presence of the Arg3500Gln mutation was confirmed using a mismatch Mspl PCR strategy according to Defesche (1993). FDB mutation was detected in 13 unrelated subjects and in 23 of 67 their relatives. All the probands belonged to the IIA group. Plasma lipid levels and clinical characteristics of 36 carriers of the Arg350oGln mutation were analysed and compared with their 44 nonaffected relatives. In the affected individuals a variable expression of lipid concentrations and atherosclerosis symptoms were observed. In one hypercholesterolemic subject with early CAD symptoms a non-hitherto described mutation in apo B gene was identified using DNA sequencing. The C ---, T transition in codon 3492 (ACT --, ATT) which is producing a change from threonine to isoleucine in the encoded amino acid sequence was found. In summary, our study showed that the prevalence of the Arg3500Gln mutation in Polish hypercholesterolemic patients was 3.7% which was similar to several other European countries.
A. Batalla I , G.I. Cubero2, J.J.R. Reguero2, S. Hevia 2, E. Merino 2, J.C. Sanmarffn 2, A. Cortina2 . Department of Cardiology;/Hospital de
Cabue~es (Gij6n); 2Hospital Central de Asturias (Oviedo), Spain Purpose: To determine whether differences exist in the morbi-mortality of patients under 50 years of age with coronary disease in the first episode or recurrent coronary disease. Methods: Consecutively, 227 male patients before 50 years of age (mean age 43 4- 5 years), who were admitted to our Coronary Care Unit as result of an episode of coronary disease, were prospectively studied. A mean follow-up of 32 4- 13 months was made with special attention to the presence of coronary events. Two groups were established depending on whether it was (Group A) their first episode of coronary disease or not (Group B). For statistical analysis, the Chi-Square test was employed for the comparison of percentages.
Results:
Events Angina Revascularisation
GroupA (n = 153) 48 (31%) 43 (28%) 37 (24%)
GroupB (n = 74) 42 (57%) 39 (53%) 39 (53%)
p 0.002 0.003 0.0001
No differences were found in relation to heart failure, myocardial infarction or mortality. Conclusions: Patients with a first clinical episode of coronary disease before 50 years of age present during follow-up fewer episodes of angina and less need for coronary revascularisation than these with various previous clinical episodes. i ThT3:W37 1 Control of risk factors in early-onset coronary disease A. Batalla I , G.I. Cubero 2, J.J.R. Reguero2, S. Hevia2, E. Merino2, J.C. Sanmartfn2, A. Cortina2 . Department of Cardiology;/Hospital de Cabue
~es (Gij6n); 2Hospital Central de Asrurius ( Oviedo ), Spain T:W37
O T H E R TOPICS
I ThT1 :V~/37 ] The importance of the ejection
fraction in the prognosis of
early-onset coronary disease A. Batalla 1, G.I. Cubero2, J.J.R. Reguero2 , S. Hevia2, J.C. Sanmartin 2 , E. Merino2, A. Cortina2 . Department of Cardiology;/Hospital de Cabuehes
(Gij6n) ; 2Hospital Central de Asturias (Oviedo), Spain Purpose: To determine whether the ejection fraction is a prognosis predictor in early onset coronary disease. Methods: Consecutively, 230 male patients before 50 years of age (mean age 43 4- 5 years), who were admitted to our Coronary Care Unit as result of an episode of coronary disease, were prospectively studied. In the acute phase by means of a structured questionnaire the presence of smoking habits, hypertension, diabetes and dyslipemia were determined. A physical examen and fasting analysis were also made. Due to clinical inestability or persistent myocardial ischemia 140 patients underwent a cadiac catheterism. According to left ventricular ejection fraction (LVEF) was greater to or minor than 60%, patients were divided into 2 groups. A mean follow-up of 32 4- 13 months was made. For statistical analysis, the Chi-Square test with Fisher's test was applied.
Results:
Normal Coronariography Mortality Heartfailure
Purpose: To determine the level of control of the principal risk factors in patients with early onset coronary disease. Methods: Consecutively, 230 male patients before 50 years of age (mean age 43 4- 5 years), who were admitted to our Coronary Care Unit as result of an episode of coronary disease (166 myocardial infarction, 64 unstable angina), were prospectively studied. Smoking habits, arterial hypertension, diabetes and dyslipemia were determined by means of a questionnaire, physical examen and fasting analysis during the acute phase ans during a mean follow-up of 32 4- 13 months.
Results: Smokers Hypertension Diabetes Dyslipemia
Acutephase 169 (73%) 84 (36%) 2l (9%) 181 (77%)
Follow-up 45 (20%) 76 (34%) 22 (10%) 172(75%)
Conclusions: In early onset coronary disease smoking is the risk factor which is better controlled during the follow-up. However, an improvement in the lipid profile of these patients is not seen.
ThT4:W37 I Characteristics of normolipemic patients with early-onset LVEF< 60% (n = 50) I (2%)
LVEF> 60% (n = 90) 12(15%)
p 0.01
7 (14%) 6 (12%)
2 (2%) 0 (0%)
0.01 0.001
No differences were found in the prevalence of hypertension, smoking habits, diabetes and dyslipemia. Nor were there any difference in the appearance of angina, myocardial infarction and the need for coronary revascularisation in the follow-up. Conclusions: Patients with early-onset ischemic heart disease and LVEF >__ 60% present a greater prevalence of normal angiograms, less episodes of heart failure and minor mortality in the follow-up.
coronary disease A. Batalla 1, G.I. Cubero2, J.J.R. Reguero2 , S. Hevia 2, E. Merino 2, J.C. Sanmartin2, A. Cortina2. Department of Cardiology;/Hospital de
Cabue~es (Gij6n); 2Hospital Central de Asturius (Oviedo), Spain Purpose: To determine common characteristics of patients under 50 years of age with coronary disease and with normal lipid profile. Methods: Consecutively, 229 male patients before 50 years of age (mean age 43 -¢- 5 years), who were admitted to our Coronary Care Unit as result of an episode of coronary disease, were prospectively studied. Smoking habits, arterial hypertension, diabetes and dyslipemia were determined during the acute phase by means of a questionnaire, physical examen and fasting analysis. Cardiac catheterism was made in 132 patients due to poor clinical control or persistent myocardial infarction. We considered as normolipemia a Total cholesterol-HDL cholesterol ratio (Tchol/HDL) less than or equal to 5. Two groups were established on the basis of such. In order to determine new
Xllth International Symposium on Atherosclerosis, Stockholm, Sweden, June 25-29, 2000