Genetics and Cardiovascular Disease Flashcards
what is congenital heart disease
a malformation of the heart, aorta or other large blood vessel
what is the most frequent form of major birth defect in newborns
congenital heart disease
what can cause congenital heart disease
several genetic health conditions inherited from one or both parents
what is the most widely known genetic condition that can cause congenital heart disease
Down’s syndrome
what percentage of children with Down’s syndrome have congenital heart disease
50%
what are almost all congenital heart diseases in children with down’s syndrome due to
a type of valve or artery narrowing problem
state 3 genetic conditions associated with congenital heart disease
down’s syndrome
turner syndrome
noonan syndrome
what percentage of children with turners syndrome will be born with congenital heart disease
25%
what percentage of children with noonan syndrome will be born with congenital heart disease
around 80%
what percentage of congenital heart disease in children with noonan syndrome will be pulmonary stenosis
50%
what are single gene syndromes
any genetic disorder caused by a change affecting only one gene, it is when a certain gene is known to cause a disease
state 4 single gene syndromes
cystic fibrosis
sickle cell disease
fragile x syndrome
muscular dystrophy
state 2 chromosomal syndromes
down’s syndrome
turner’s syndrome
what are micro-deletion syndromes
syndromes caused by a chromosomal deletion smaller than 5 million base pairs spanning several genes that is too small to be detected by conventional cytogenetic methods or high resolution karyotyping
state 4 causes of congenital heart disease
chromosomal
micro deletions
single gene
teratogens
what is a cystic hygroma
it is an often congenital multiloculated lymphatic lesion that can arise anywhere, but is classically found in the left posterior triangle of the neck and armpits
what is a webbed neck
it is a congenital skin fold that runs along the sides of the neck down to the shoulders
what is the MAPK pathway
it is a chain of proteins in the cell that communicates a signal from a receptor on the surface of the cell to the DNA in the nucleus of the cell
what is 22q11 deletion syndrome
it is a disorder caused by the deletion of a small piece of the middle of chromosome 22
what is the mnemonic in relation to 22q11 deletion syndrome
CATCH cardiac malformation abnormal facies thymic hypoplasia cleft plate hypoparathyroidism
what is williams syndrome
it is a developmental disorder that affects many parts of the body
what is williams syndrome characterised by
mild to moderate intellectual disability or learning problems unique personality characteristics distinctive facial features heart and blood vessel problems cardiovascular problems
state many types of congenital heart disease
atrial septal defect ventricular septal defect pulmonary stenosis coarctation of the aorta tetralogy of ballot transposition of the great arteries
what is ventricular septal defect associated with
folate deficiency
what is folate deficiency
it is a low level of folic acid and derivatives in the body
what is a late finding in folate deficiency
anaemia
state 4 cardiac disorders that can be inherited
arrhythmias
congenital heart disease
cardiomyopathy
high blood cholesterol
what is Marfan syndrome
it is a genetic disorder that affects the body’s connective tissue
what is the optimal management of Marfan syndrome
at least one annual clinical review ECHO beta blockers angiotensin 2 receptor blockers potentially prophylactic aortic surgery
what is aortic root surgery
it is a complex surgical procedure to treat a dilation or enlargement of a section of the large blood vessel that carries blood from your heart to your vital organs
where is the aortic root located?
near the junction of your aorta and your heart
basically describe what aortic root surgery
it is a surgical procedure to treat an aortic aneurysm of a section of the aorta
what is Brugada syndrome
it is a condition that causes disruption to the hearts normal rhythm
what can Brugada syndrome lead to
irregular heartbeats in the ventricles
what is ventricular arrhythmia
it is an abnormality, it is irregular heartbeats in the ventricles
what is hypertrophic cardiomyopathy
it is a condition in which a portion of the heart becomes thickened without an obvious cause
what does hypertrophic cardiomyopathy result in
the heart being less able to pump blood effectively
what are complications of hypertrophic cardiomyopathy
heart failure
an irregular heart beat
sudden cardiac death
what does ARVC stand for
arrhythmogenic right ventricular cardiomyopathy
what is arrhythmogenic right ventricular cardiomyopathy
it is a form of heart disease, it is a disorder of the myocardium and usually appears in adulthood
what is dilated cardiomyopathy
it is a condition in which the heart’s ability to pump blood is decreased because the heart’s main pumping chamber, the left ventricle, is enlarged and weakened
what does dilated cardiomyopathy prevent
it prevents the heart in some cases from relaxing and filling with blood as it should
what is cascade screening
it is a mechanism for identifying people at risk for a genetic condition by a process of systemic family tracing
what is cardiovascular genetics
it is the study of the genetic mechanisms of cardiovascular physiology and pathophysiology
