valvular heart diseas frequent occur consequ prematur atherosclerosi individu famili hypercholesterolemia studi have primarili focus aortic valv calcif heterozyg pauciti data incid valvular diseas homozyg perform echocardiograph studi 33 relat young patient mean age 26 year homozyg mean ldl 447 73 ldl apheresi look subclin valvulopathi twentyon patient had evid valvulopathi aortic mitral valv while seven subject show notabl mitral regurgit older patient were more like have aortic valv calcif 21 versus 21 year 59 versus 125 001 despit lower ldl level time studi 385 versus 513 0016 patient valvulopathi were older had compar ldl level lower carotid intimamedia thick our data suggest homozyg patient valvulopathi present across wide age spectrum ldl level less like influenc lipidlow treatment echocardiograph studi focus aortic root thicken stenosi regurgit thus like effect modal serial followup subclin valvular heart diseas

Akl C. Fahed

Kamel Shibbani

Rabih R. Andary

Mariam T. Arabi

Robert H. Habib

Denis D. Nguyen

Fady F. Haddad

Elie Moubarak

Georges Nemer

Sami T. Azar

Fadi F. Bitar

Premature Valvular Heart Disease in Homozygous Familial Hypercholesterolemia

ddd sgn mice have signific higher plasma lipid concentr than c57bl mice present studi perform quantit trait loci qtl map plasma totalcholesterol cho triglycerid concentr reciproc 2 male intercross popul between two strain singleqtl scan identifi four signific qtl chromosom chrs 1 5 17 19 cho two signific qtl chrs 1 12 includ cross direct interact covari identifi separ signific qtl chr 17 cho none when larg phenotyp effect qtl chr 1 control composit interv map identifi three addit signific qtl chrs 3 4 9 cho none qtl chr 19 novel qtl cho allel effect qtl signific differ between male femal wholeexom sequenc analysi ddd sgn mice suggest apoa2 acad were plausibl candid gene under cho qtl chrs 1 5 respect thus identifi multifactori basi plasma lipid concentr male mice these find provid insight genet mechan plasma lipid metabol

Jun-ichi Suto

Misaki Kojima

Identification of Quantitative Trait Loci That Determine Plasma Total-Cholesterol and Triglyceride Concentrations in DDD/Sgn and C57BL/6J Inbred Mice

famili hypercholesterolaemia rare diseas tend diagnos late russia genet phenotyp characterist diseas well defin investig 102 patient definit 52 patient 509 genet analysi perform reveal pathogen mutat low densiti lipoprotein ldl receptor gene 22 patient report here five mutat ldl receptor gene found karelian sampl first time the detect rate mutat definit patient 423 two group patient definit diagnosi accord dutch lipid clinic network criteria were compar first group had putat function import ldl receptor gene mutat while second group ldl receptor gene mutat were exclud singlestrand conform polymorph analysi total ldl cholesterol level were higher group ldl receptor mutat compar mutationfre popul the frequenc mutat patient ldl cholesterol 65 mmol more than 3 time higher than patient ldl 65 mmol total ldl cholesterol level frequenc coronari heart diseas myocardi infarct were higher group definit compar group probabl possibl cholesterol figur patient differ age sex from karelian popul were compar

V. A. Korneva

T. Yu. Kuznetsova

T. Yu. Bogoslovskaya

D. S. Polyakov

V. B. Vasilyev

A. V. Orlov

M. Yu. Mandelshtam

Cholesterol Levels in Genetically Determined Familial Hypercholesterolaemia in Russian Karelia

the cholesterol balanc procedur allow calcul cholesterol synthesi base assumpt loss endogen cholesterol via fecal excret bile acid synthesi compens novo synthesi under ezetimib therapi hepat cholesterol diminish which can compens hepat novo synthesi hepat extract plasma cholesterol the plasma lathosterol concentr correct total cholesterol concentr rlath marker novo cholesterol synthesi increas dure ezetimib treatment unchang under treatment ezetimib simvastatin cholesterol balanc deriv synthesi data increas dure both therapi hypothes follow 1 the cholesterol balanc data must appli hepatobiliari cholesterol pool 2 the calcul cholesterol synthesi valu sum hepat novo synthesi net plasma liver cholesterol exchang rate 3 the reduc rate biliari cholesterol absorpt major trigger regul hepat cholesterol metabol under ezetimib treatment support experiment literatur data present describ chang cholesterol flux under ezetimib statin combin treatment omnivor vegan link plasma rlath liver function defin hepat novo synthesi target regul synthesi ezetimib depend direct hepat drug effect cannot exclud

Frans Stellaard

Dieter Lütjohann

The Interpretation of Cholesterol Balance Derived Synthesis Data and Surrogate Noncholesterol Plasma Markers for Cholesterol Synthesis under Lipid Lowering Therapies

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