scholarly journals Long-Term Follow-up of a Homozygous Familial Hypercholesterolemia Child with Progressive Aortic Stenosis and Coronary Atherosclerosis

2020 ◽  
Author(s):  
Gaojun Cai ◽  
Long Jiang ◽  
Ya Yang ◽  
Liyuan Sun ◽  
Xu Wang ◽  
...  
Keyword(s):  
Aortic Stenosis ◽  
Familial Hypercholesterolemia ◽  
Coronary Atherosclerosis ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Homozygous Mutation ◽  
Autosomal Dominant Disorder ◽  
Long Term Follow Up

Abstract Familial hypercholesterolemia (FH) is a severe autosomal-dominant disorder. We reported a case who firstly admitted to our institution for obvious cutaneous and tendinous xanthomas and high low-density lipoprotein cholesterol when he was 3.7 year old in 2005. DNA sequencing detected the homozygous mutation in LDLR exon9 c.1187-10G>A, a 3' splice acceptor mutation in poly-pyrimidine tract of intron 8. During the long-term follow-up, progressive aortic stenosis and coronary atherosclerosis was found, although given the lipid-lowing drugs. HoFH with c.1187-10G>A mutation in LDLR gene might lead to severe damage in cardiovascular system and unsatisfactory response to conventional lipid-lowing drugs. Other aggressive treatments should be used in HoFH patients with this mutation as early as possible.

Low-density Lipoprotein Apheresis in Children With Familial Hypercholesterolemia: Follow-up to 21 Years

2008 ◽  
Vol 12 (3) ◽  
pp. 195-201 ◽  
Author(s):  
Jean-Bernard Palcoux ◽  
Marielle Atassi-Dumont ◽  
Patrice Lefevre ◽  
Olivier Hequet ◽  
Jean-Louis Schlienger ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Low Density ◽  
Lipoprotein Apheresis

PO621 Heart Rate Reduction Wiht Ivabradine In Severe Aortic Stenosis Rejected to Valve Replacement. Long Term Follow Up

Global Heart ◽  
2018 ◽  
Vol 13 (4) ◽  
pp. 513
Author(s):  
G.A. Cortez Quiroga ◽  
M.C. Durán Torralba ◽  
C. Rus Mansilla ◽  
D. Fatela Cantillo ◽  
A. Fernández Suárez
Keyword(s):  
Heart Rate ◽  
Aortic Stenosis ◽  
Valve Replacement ◽  
Severe Aortic Stenosis ◽  
Heart Rate Reduction ◽  
Rate Reduction ◽  
Long Term Follow Up

scholarly journals Incidence of Cardiovascular Disease in Patients with Familial Hypercholesterolemia Phenotype: Analysis of 5 Years Follow-Up of Real-World Data from More than 1.5 Million Patients

2019 ◽  
Vol 8 (7) ◽  
pp. 1080 ◽  
Author(s):  
Luís Masana ◽  
Alberto Zamora ◽  
Núria Plana ◽  
Marc Comas-Cufí ◽  
Maria Garcia-Gil ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Primary Care System ◽  
Low Density Lipoprotein Cholesterol ◽  
Real World Data ◽  
Old Patients ◽  
Phenotype Analysis ◽  
Atherosclerotic Cardiovascular Diseases

In the statin era, the incidence of atherosclerotic cardiovascular diseases (ASCVD) in patients with familial hypercholesterolemia (FH) has not been updated. We aimed to determine the incidence of ASCVD in patients with FH-phenotype (FH-P) and to compare it with that of normal low-density lipoprotein cholesterol (LDL-C) patients. We performed a retrospective cohort study using the Database of the Catalan primary care system, including ≥18-year-old patients with an LDL-C measurement. From 1,589,264 patients available before 2009, 12,823 fulfilled FH-P criteria and 514,176 patients were normolipidemic (LDL-C < 115 mg/dL). In primary prevention, patients with FH-P had incidences of ASCVD and coronary heart disease (CHD) of 14.9/1000 and 5.8/1000 person-years, respectively, compared to 7.1/1000 and 2.1/1000 person-years in the normolipidemic group. FH-P showed hazard ratio (HR) of 7.1 and 16.7 for ASCVD and CHD, respectively, in patients younger than 35 years. In secondary prevention, patients with FH-P had incidences of ASCVD and CHD of 89.7/1000 and 34.5/1000 person-years, respectively, compared to 90.9/1000 and 28.2/1000 person-years in the normolipidemic group (HR in patients younger than 35 years: 2.4 and 6.0). In the statin era, FH-P remains associated with high cardiovascular risk, compared with the normolipidemic population. This excess of risk is markedly high in young individuals.

Progression of aortic stenosis in elderly patients over long-term follow up

2013 ◽  
Vol 167 (4) ◽  
pp. 1226-1231 ◽  
Author(s):  
L.G. Kearney ◽  
M. Ord ◽  
B.F. Buxton ◽  
G. Matalanis ◽  
S.K. Patel ◽  
...  
Keyword(s):  
Aortic Stenosis ◽  
Elderly Patients ◽  
Long Term Follow Up

Long-term follow-up of valvotomy before 1968 for congenital aortic stenosis

1986 ◽  
Vol 58 (3) ◽  
pp. 338-341 ◽  
Author(s):  
Kai-Sheng Hsieh ◽  
John F. Keane ◽  
Alexander S. Nadas ◽  
William F. Bernhard ◽  
Aldo R. Castaneda
Keyword(s):  
Aortic Stenosis ◽  
Congenital Aortic Stenosis ◽  
Long Term Follow Up

scholarly journals Binding, internalization, and hydrolysis of low density lipoprotein in long-term lymphoid cell lines from a normal subject and a patient with homozygous familial hypercholesterolemia.

1976 ◽  
Vol 144 (2) ◽  
pp. 444-455 ◽  
Author(s):  
Y K Ho ◽  
M S Brown ◽  
H J Kayden ◽  
J L Goldstein
Keyword(s):  
Cell Surface ◽  
Familial Hypercholesterolemia ◽  
Human Lymphocytes ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Lymphoid Cells ◽  
Low Density ◽  
High Affinity ◽  
Hydrolysis Of

Long-term established human lymphoid cells were shown to possess high affinity cell surface receptors for low density lipoprotein (LDL), the major cholesterol-carrying protein in human plasma. Binding of LDL to these receptors was followed by internalization of the lipoprotein and hydrolysis of its protein and cholesteryl ester components. Cultured lymphocytes from a patient with the homozygous form of familial hypercholesterolemia lacked cell surface LDL receptors and therefore failed to take up and degrade the lipoprotein with high affinity. Cultured human lymphocytes should prove useful for further studies of: (a) the relation between cholesterol metabolism and cellular function and (b) the mechanism by which LDL binding at the cell surface leads to internalization of the lipoprotein.

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