Congenital and genetic heart disease Flashcards
What are the different types of causes of congenital heart disease?
Chromosomal Microdeletions Single gene Teratogens VACTERL Multifactorial
What are the types of chromosomal abnormalities?
Trisomies
Monosomes
What are some types of teratogens?
Rubella
Alcohol
Anti-epileptic drugs
Maternal DM
What is the genetic mutation in down syndrome?
Trisomy 21
What is the rate of down syndrome?
1/800 live births has down syndrome
What are some of the effects of Turner syndrome?
Coarctation of the aorta Short stature Gonadal dysgenesis Puffy hands Webbed necks Gonadal dysgenesis Sterility
What is the rate of turner syndrome?
1/3000 live births
What is the genetic abnormality associated with Turners syndrome?
A female is partly or completely missing a X chromosome
What syndromes have characteristic neck webbing?
Turner syndrome Noonan syndrome CFC syndrome Leopard syndrome Costello syndrome
What are the main symptoms of Noonan syndrome?
Pulmonary stenosis Short stature Neck webbing Cryptorchidism Characteristic face
What gene is mutated in Noonan syndrome?
PTPN11 gene
What are the main symptoms of 22q11 deletion syndrome?
Cardiac malformation Abnormal facies Thymic hypoplasia Cleft palate Hypoparathyroidism Speech delay
What two syndromes are encompassed by 22q11 deletion syndrome?
DiGeorge syndrome
Shprintzen syndrome
What psychiatric problems is 22q11 deletion syndrome be associated with?
Schizophrenia
Depression
Bipolar affective
What are the main symptoms of Williams syndrome?
Aortic stenosis Hypercalcaemia 5th finger clinodactyly Characteristic face Cocktail party manner
What is the mutation that causes williams syndrome?
Deletion of a number of genes and elastin from chromosome 7
How many units of alcohol can cause fatal alcohol syndrome?
3-5 units per week
What deficiency is VSD associated with?
Folate deficiency
What are some genetic cardiovascular connective tissue disease?
Marfans syndrome
Loeys-Dietz
Ehlers Danlos
Familial thoracic aortic aneurysm
What genetic diseases are associated with familial arrhythmias?
Long QT syndrome
Brugada syndrome
CPVT
ARVC
What genetic diseases are associated with familial cardiomyopathy?
Hypertrophic cardiomyopathy
Dilated cardiomyopathy
What genes are mutated in Marfan syndrome?
Fibrillin 1 gene on chromosome 15q21
What type of inheritance is Marfan syndrome?
Autosomal dominant
What are the symptoms of Marfan Syndrome?
Aortic dilation/dissection Ectopia lentis Myopia Mitral valve prolapse Dural ectasia Spontaneous pneumothorax Abnormal height Scoliosis Abnormally long limbs Thoracic lordosis
What is used to diagnose Marfan syndrome and how is it used?
Ghent 2010 criteria - 2 system findings from a list must be positive for the diagnosis to be made
What would give a Ghent systemic score of 7 or above?
Cardiovascular affected
Eyes affected
Fibrillin 1 mutation
Family history of MFS
What investigation is mandatory in every case of MFS?
Echocardiography
What is Marfan Syndrome type 2?
Non-ocular Marfan syndrome
What is the management of Marfan syndrome?
Annual clinical reviews Echo Beta blockers Angiotensin II receptor blockers Prophylactic aortic surgery when needed
When should prophylactic surgery be done in Marfan syndrome?
If sinus of valsalva exceeds 5.5cm or 5% growth per year
What should be done during pregnancy for Marfan syndrome?
Monitor aortic root frequently if diameter exceeds 4cm
What are the different types of long QT syndromes?
Romano-Ward syndrome
Jervell Lange-Neilsen syndrome
What are the symptoms of Romano-Ward syndrome?
Syncope Seizures Sudden death VF Torsade de Pointes
What are the symptoms of Jervell Lange-Neilsen?
Syncope Seizures Sudden death VF Torsade de Pointes Congenital sensorineural deafness
what is the treatment for long QT syndrome?
Beta blockers Nicorandil Mexilitene Lidocaine ICD
What are the signs of ARVC?
LBBB pattern
Right ventricular cardiomyopathy
T wave inversion V2-3
Disordered cell junction
What type of inheritance is ARVC?
Autosomal dominant inheritance
What is cascade screening?
When a person is diagnosed during screening so their family members are also screened
