cardiovascular genetics

Question 1

causes of CVD

Answer 1

Environmental - diet, sedentary, pollutants, smoking
Epigenetic variation - outside genetic code but function intermediately between environment and genotype
Genes coil around histones made up nucleotide sequences - variations in these - central dogma underpins this
Genetic

Question 2

what are the chromosome cuts of CVD

Answer 2

Chromosome causes of cardiovascular disorders - extra chromosome 21 - congenital heart disease as well atrioventricular defect
Turner syndrome - 1 copy of x - congenital heart disease - palpation of aorta
Chromosome 22 missing part - tubular nose, mouth not below, short stature - conotruncal defects- tetralogy of fallot , DORV, TGA( transposition of great arteries) , TA ]

Question 3

hillock competence

Answer 3

Gillick competence is a term originating in England and Wales and is used in medical law to decide whether a child (under 16 years of age) is able to consent to their own medical treatment, without the need for parental permission or knowledge.

Question 4

marfan syndrome

Answer 4

being tall
abnormally long and slender limbs, fingers and toes (arachnodactyly)
heart defects
lens dislocation – where the lens of the eye falls into an abnormal position

disorder of bodyies connective tissue

Question 5

what are mendelian disorders

Answer 5

Mendelian disorder is a type of genetic disorder primarily resulting due to alterations in one gene or as a result of abnormalities in the genome. Such a condition can be seen since birth and be deduced on the basis of family history using the family tree.

examples
cystic fibrosis - autosomal recessive
sick cell anaemia - autosomal recessive
Huntington’s disease - autosomal dominant

Question 6

what are mutlifactorial disorders

Answer 6

Multifactorial diseases are caused by a combination of the effects of multiple genes or by interactions between genes and the environment.

e.g. diabetes, asthma , depression and high blood pressure

Multifactorial disorder have combination of environmental and polgenic factors
Genetic - many different lcoi to the phenotype
Polygenic traits such as wight, height and shoe size
Expression of a phenotype determined by many genes at different loci

bell shaped curve

Question 7

monogenic

Answer 7

involving or controlled by a single gene

Question 8

Hypertrophic cardiomyopathy

Answer 8

HCM) is a complex type of heart disease that affects the heart muscle. It causes thickening of the heart muscle (especially the ventricles, or lower heart chambers), left ventricular stiffness, mitral valve changes and cellular

CAV3 , GLA , MYL2 and PRKAG2