Congenital Heart Disease Genetic Heart Disease***** Flashcards
What is the causes of congenital heart disease
Chromosomal (number)
Microdeletions
Single nucleotide variation
Teratogens
Other: VACTERL
Multifactorial: isolated CHD
What is examples of NUMERICAL chromosomal causes of congenital heart disease
Down syndrome
What congenital defect is present in down syndrome
atrio-ventricular septal defects
What is a mendelian disorder of single nucleotide variation resulting gin congenital heart problems
Turner 45X
Noonan syndrome
What is the congenital heart disease in turner syndrome
Coarctation of aorta
What is the presentation of turner syndrome
short stature
gonadal dysgenesis (progressive loss of germ cells on the developing gonads of an embryo)
puffy hands
Neck webbing
What is the mutational cause in tuners syndrome and what does increases the risk of
mosaic karyotype 45X
increased risk of ovarian cancer
What is the congenital heart disease in Noonan syndrome
Pulmonary stenosis
What is the mutation in Noonan syndrome
Autosomal Dominant
PTPN11 mutation
What is the presentation of Noonan syndrome
Short stature
neck webbing
cryptorchidism
characteristic face
What is two examples of micro deletions that cause congenital heart disease
2q11 deletion syndrome
Williams syndrome
What is the presentation of 22q11 deletion syndrome
C ardiac malformation A bnormal facies T hymic hypoplasia C left palate H ypoparathyroidism 22
What kind of disease is 22q11 deletion syndrome
Usually sporadic autosomal dominant
When would you test for 22Q11 deletion syndrome
when two or more features are present
What are the potentially psychiatric problems with 22Q11 deletion syndrome
schizophrenia
Depression
Bipolar affective
Why is 22Q deletion a genomic disease
as a low copy number repeats, therefore the chromosomes being replicated pair up with each other giving a predisposition to deletion and translocation
What is the congenital heart disease in williams syndrome
aortic stenosis
What is the further presentation of williams syndrome
Hypercalcemia
5th finger clinodactyly
characteristic face
cocktail party manner
What cause of Williams syndrome
Deletion of Elastin on chromosome 7
Deletion of contiguous genes
What are the teratogens that can cause congenital heart disease
Fetal alcohol syndrome
anti epileptic drugs
rubella - affects back and lower limbs
maternal diabetes mellitus
What is the characteristic of fetal alcohol syndrome
characteristic face - Spacing between the eyes
thin lips
developmental delay (ADHD)
Hearing loss
fine motor difficulties
cardiac malformation
Why does fetal anticonvulsant syndrome (anti epileptics) similar to metal alcohol syndrome
Similar methylation
What is the cardiovascular effect of folate deficiency for the foetus
Ventricular septal defect
What is the different multifactorial inheritance
Aortic Stenosis
Patient Ductus Arteriolus - persistent opening between two major blood vessels leading from the heart
Atrial Septal Defect
Ventricular septic defect
Pulmonary Stenosis
Tetralogy of Fallot
What is the different genetic cardiac disease
Cardiovascular connective tissue disesse
Familial Arrhythmias
familial cardiomyopathy
What is examples of Cardiovascular connective tissue disesse
Marfan
What is the presentation of marfan
Tall stature
Dural ectasia - ballon in spinal chord
arachnodactyly - long digits
Scoliosis
pectus carinatum
Pneumothorax
Lens subluxation/ectopia lentis
Abnormal facies
Mild aortic root dilatation
What kind of disorder is marfan syndrome
Autosomal dominant
Multisystem
Connective tissue
What is the cause of marfan syndrome
mutation in the fibril 1 gene on chromosome 15q21
What is marfan diagnosed by
Ghent 2010 criteria
Cardiovascular - aortic dilation/dissection
Eyes – ectopia lentis
Family history
Fibrillin 1 mutation
Systemic score ≥ 7
What is the congenital heart defects causes by marfan
aortic root dilatation
aortic dissection
mitral valve prolapse (regurgitation)
What does the systemic score investigate in Ghent criteria
Skeletal Skin Respiratory Dural ectasia Mitral valve prolapse Myopia
What test is mandatory in every marfan diagnosis
Echocardiography mandatory in every case
What testing is important when only a few of the main diagnostic features are present
Genetic test for Fibrillin 1 mutation
What further investigation confirm marfan syndrome
ECHO
Lumbar spine MRI
Pelvic x-ray
What therapy should be considered for marfan
β blockers - all patients
Angiotensin II Receptor Blockers
Aortic root surgery - either repair or replace
When would aortic root surgery be considered
prophylaticlly if Sinus of Valsalva exceeds
5.5 cm or 5% growth per year
In aortic root surgery, what is the benefit and disadvantage of replacing valve with mechanical valve
Adv. - lasts longer
Dis. - Need to take warfarin
What is the benefit and disadvantage of a valve sparing procedure in aortic root surgery
Adv - no warfarin required
Dis - may need to re-operate
What is two inherited genetic cardiac problems
Familial arrhythmia
Familial cardiomyopathy
What is examples of Familial arrhythmias
Long QT syndrome (romano-ward syndrome)
Brugada syndrome
What is the clinical features of familial arrhythmias
Syncope
seizure
sudden death
arrhythmias precipitated by emotion, exercise and drugs
What is the treatment for Long QT syndrome
Beta blockers
Nicrorandil
Lidocaine
What occurs in familial cardiomyopathy
Myocytes end up very disordered and increase the risk of arrhythmia and sudden death is very common
What does genetic testing include in screening for cardiomyopathy
LMNA,
SCN5A,
dystrophin,
sarcomere genes
What is cascade screening
screening of 3 generation family using an ECG and genetic testing
