Genetics of Cardiovascular Disease Flashcards
What are some causes of congenital heart disease?
Copy number variation (CNV)
Single nucleotide variation (SNV)
Multifactorial
Teratogens
What does CNV stand for?
Copy number variation
What does SNV stand for?
Single nucleotide variation
What are examples of copy number variations?
Whole chromosome (trisomy, monosomy)
Part of a chromosome (22q11 deletion, Williams)
What is an example of single nucleotide variation?
Mendelian disorder (Noonan/CFC, Marfan)
What are examples of teratogens?
Rebella
Alcohol
Anti-epileptic drugs
What causes down syndrome?
Trisomy 21 (usually due to maternal non-dysjunction)
What percentage of people with down syndrome have atrioventricular septal defects?
15%
How does the risk that a pregnancy has down syndrome increase?
With maternal age
What does CHD stand for?
Coronary heart disease
What causes Turner’s syndrome?
45, X (only affects females)
What are some characteristics of Turner’s syndrome?
Coarctation of aorta
Short stature
Gonadal dysgenesis
Puffy hands
What is neck webbing?
Excess nuchal folds
An indicator of prenatal cardiac difficulties
What is neck webbing an indicator of?
Prenatal cardiac difficulties
What genetic diseases is neck webbing present in?
Turner’s syndrome
Noonan syndrome
CFC syndrome
Leopard syndrome
Costello syndrome
What are characteristics of Noonan syndrome?
Pulmonary stenosis
Short stature
Neck webbing
Cryptochidism
Characteristic face
PTPN 11 gene (chromosome 12)
What does MAPK pathway stand for?
Mitogen activated protein kinase pathway
What is the MAPK pathway?
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
What are characteristics of 22q11 deletion syndrome?
Cardiac malformations
Abnormal facies
Thymic hypolasia
Cleft palate
Hypoparathyroidism
22q11 deletion
Encompasses both DiGeorge and Velocardiofacial syndrome
What is 22q11 deletion syndrome a combination of?
DiGeorge and Velocardiofacial syndrome
What are characteristics of DiGeorge syndrome?
Thymic hypoplasia
Hypoparthyroidism
Outflow tract cardiac malformation
What are characteristics of Velocardiofacial syndrome?
Cleft palate
Outflow tract cardiac malformation
Characteristic face
What kind of inheritance does Velocardiofacial syndrome show?
Autosomal dominant
What are characteristics of Williams syndrome?
Aortic stenosis
Hypercalcaemia
5th finger clinodactyly
Characteristic face
Cocktail party manner
Delection of elastin on chromosome 7
Deletion of contiguous genes
What causes Williams syndrome?
Deletion of elastin on chromosome 7 and contiguous genes
What is foetal alcohol syndrome?
Diagnostic term to describe the impacts on the braina dn body of people prenatally exposed to alcohol during pregnancy
What is a diagnostic term used to describe the impacts on the braina dn body of people prenatally exposed to alcohol during pregnancy?
Foetal alcohol syndrome
What model does multifactorial inheritance use?
Threshold model
What are some examples of simple congenital heart diseases?
Lesion
Aortic stenosis
Patent ductus arteriosus
Coarctation
Atrial septal defect
Ventricular septal defect
Pulmonary stenosis
Tetralogy of Fallot
What is ventricular septal defect associated with?
Folate deficiency
What is folate deficiency associated with?
Ventricular septal defect
What is folate?
Vitamin B12
What are different categories of cardiac genetic disease?
Cardiovascular connective tissue disease
Familial arrhythmias
Familial cardiomyopathy
What are examples of cardiovascular connective tissues diseases that are genetic?
Marfan
Loeys-Dietz
Ehlers Danlos
FTAA
What are examples of familial arrhythmias?
Long QT
Brugda
CPVT