john n. hamaty d.o. facc, facoi. cardiovascular genetics environmental causes- trauma, malnutrition,...
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John N. Hamaty D.O. FACC, FACOI
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Cardiovascular GeneticsEnvironmental causes- trauma, malnutrition,
drug abuse-defined by body response- phenotype
Genotype-how patient suffers or recovers
Therefore, genetics plays a role in both cause and process; etiology and pathogenesis
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Cardiovascular GeneticsGenotype-detrimental in two distinct ways-
Mutant genes upset embryology or physiologyKnown as genetic diseases
Facilitate the action of an extrinsic cause in producing a disease-coronary artery disease
Inherited susceptibilities
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Cardiovascular Disorders Associated with Chromosome Aberrations
Trisomy 21- Downs SyndromeMost common phenotype1/600 birthsMaternal age; >35 years and greatest >45(4%)CHD present in 40-50%Endocardial cushion defectAtrial septal defect with cleft mitral valvePulmonary Hypertention
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Cardiovascular Disorders Associated with Chromosome Aberrations
Turner syndrome- 45,X karyotype1/2500 females lacks an X chromosomeShort stature or amenorrhea is evaluated20-50% report cardiovascular abnormalitiesAortic coarctationBicuspid aortic valveDilated aortic root
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Congenital Heart DiseaseIncidence- 3.1-3.5/1000Two mechanisms- multifactorial and
mutations of single genes
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Multifactorial ProcessesFamilial Atrial Septal
Defect-primum/secundumHolt-Oram Syndrome-autosomal dominant
Dysplasia of upper limbs and ASD“Digitalization of the thumb”Secundum ASD
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Supravalvular Aortic StenosisAsymptomaticWilliams Syndrome-sporadic,,haighly variable
autosomal dominantElfin faciesPulmonic stenosisSupravalvular aortic stenosisMitral valve prolapse
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Mitral Valve ProlapseHeterogeneousMost common abnormality of human heart
valveAutosomal dominant-minimal formAutosomal dominant-variable
Marfan syndrome
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Teratogenic EffectsEthanol- 50% CHD: VSD, ASD
Most common teratogen to which fetal embryo and fetus are exposed-first trimester
Warfarin- 10% CHD: PDA, PS, intracranial hemorrhage
Fetal Rubella- 50% of fetuses become infected with rubella virus when mother is infected during first trimester. PDA and ASD, PS
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Hypertrophic Cardiomyopathy
Phenotype is anatomic and histologicMyocardial hypertrophy without secondary
cause; cellular and myofiber disarray, fibrosis and cad.
No pathognomonic findingsAffects first degree relatives and in families
the phenotype is inherited and an autosomal dominant, familial hypertrophic cardiomyopathy
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Hypertrophic Cardiomyopathy
Wide range of expression due to ageOlder age has less expressionTherefore, pedigree screening by phenotype
for clinical, counseling purposes isn’t complete without the following: Echocardiogram-segmental hypertrophy LVH without any other explanation
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Hypertrophic Cardiomyopathy
FHC-disease of the sarcomereClassic mutations of at least six loci
The first is 14q1 and the cardiac B-myosin heavy chain gene
50% of all FHC occur here
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FOCUS ON CORONARY HEART DISEASE AND TREATMENT
John N. Hamaty D.O. FACC, FACOI
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Small dense LDLLDL A-large buoyant particlesLDL B-small dense particlesOxidization of LDL results in exposure to
endothelial cells, smooth muscle cell and macrophages
Oxidized LDL-adherence to arterial wall-activation of macrophages
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High Dense LipoproteinsSecreted by the liver and intestineLecithin activity of cholesterol
acyltransferase is generated from the phospholipid and cholesterol molecules producing HDL
HDL-2 and HDL-3Women have higher levels
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Normal
Fatty streak
Foam cells
Lipid-rich plaque
Lipid core
Fibrous cap
Thrombus
Development of Atherosclerotic Plaques