Genetic Heart Disease Flashcards
What causes a genetic cardiac disease?
Some are inherited, these are multifactorial as theyre based on multiple genes
Some are random
Some are caused by enviromental teratogens.
What teratogens can cause congenital heart disease?
Maternal:
- Anti-epileptics (Foetal Anticonvulsant Syndrome)
- Rubella
- Smoking
- Drinking (Foetal Alcohol Syndrome)
What is the Nuchal Translucency (NT) test?
An ultrasound during pregnancy which measures the buildup of fluid in the back of the babys neck.
A thicker than normal fluid buildup can indicate down syndrome, Edwards syndrome (trisomy 18) and heart problems.
What is down syndrome?
Trisomy in chromosome 21 due to non-disjunction
What are the effects of down syndrome?
ASD/VSD/Tetralogy of Fallot/PDA
- > Intellectual Disability
- > Physical Growth Delays
- > Facial Characteristics
- > Duodenal Atresia (absence/closure of part of the duodenum causing intestinal obstruction in newborns & increased amniotic fluid in pregnancy)
What is Turner’s Syndrome?
No sex chromosome from the father -> 45, X
What are the effects of Turner’s Syndrome?
Coarctation of the Aorta
- > Short Stature
- > Puffy Hands
- > Neck Webbing
- > Gonadal Dysgenesis (loss of germ cells in embryos leads to infertility & a sexually infantile female appearance)
What is Noonan Syndrome?
A mutation in the PTPN11 gene on chromosome 12 (autosomal Dominant inheritance).
This is a gene in the MAPK pathway (mitogen activated protein kinase)
What are the effects of Noonan Syndrome?
Pulmonary Stenosis & Septal Defects
- > Short Stature
- > Neck Webbing
- > Facial Characteristics
- > Cryptorchidism (missing 1 or more testicles)
What conditions are associated with Noonan syndrome due to all affecting different genes in the MAPK pathway? And their symptoms?
Cardiofaciocutaneous (CFC):
Problems with the Ectoderm - Developmental Delay
Leopard Syndrome: Multiple Lentigenes (small proliferation of melanocytes, looks just like freckles, harmless) - Deafness
Costello Syndrome:
Thickened Skin Folds - Susceptible to Warts - Cancer Risk - CARDIOMYOPATHY
What is 22q11 deletion syndrome?
A microdeletion syndrome where a small segment of chromosome 22, q (long) arm, band 1, sub-band 1 is deleted.
It encompasses DiGeorge syndrome and Shpintzen (velocardiofacial) syndrome.
What are the features of 22q11 deletion syndrome?
CATCH22:
Cardiac Malformation (tetralogy of fallot) Abnormal facies Thymic Hypoplasia Cleft Palate Hypoparathyridism 22q11 deletion syndrome
Can also have speech delay/palatal dysfunction, renal issues and psychiatric problems.
What is hypoparathyridism?
under-function of the parathyroid glands -> under-production of the parathyroid hormone
Can lead to low serum calcium levels causing cramping/twitching/tetany
What is William’s Syndrome?
A microdeletion syndrome where 27~ contigous genes on chromosome 7 are deleted. Including those for LIM kinase & elastin.
What are the features of william’s syndrome?
Aortic Stenosis (supravalvular)
- > Hypercalcemia
- > 5th finger clinodactyly (curvature towards 4th finger)
- > Characteristic Face
- > Cocktail Party Manner (very sociable, outgoing and interact easily with stranger)