Genetic Heart Disease Flashcards
What causes a genetic cardiac disease? [3]
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? [4]
FARM
- Foetal Alcohol
- Anti-Convulsants
- Rubella
- Maternal Diabetes
What is the Nuchal Translucency (NT) test? [2]
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? [5]
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? [5]
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? [2]
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? [5]
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? [3]
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 is William’s Syndrome? [2]
Cardiac disease in Williams
A microdeletion syndrome where 27~ contiguous genes on chromosome 7 are deleted. Including those for LIM kinase & elastin. Aortic Stenosis (supravalvular)
What are the effects of Foetal Alcohol Syndrome (FAS)
ASD/VSD
What are the effects of Foetal anticonvulsant syndrome [4] and the specific drugs causing it [3]
Folate Deficiency which can cause VSD
- > Characteristic Face
- > Malformation Patterns
- > Developmental Delay
- Valproate
- Phenytoin
- Carbamazepine
What are Romano-ward and Jervell Lange-Neilsen syndromes?
Long QT syndromes
What are the features of Romano-Ward [3] & Jervell Lange-Neilsen Syndromes?
Both:
- Syncope
- Seizure
- Sudden Death
Jervell Lange-Neilsen also has congenital Sensorineural Deafness.
What are the triggers for episodes of Romano-Ward and Jervell Lange-Neilsen syndromes? [3]
- Emotion
- Exercise
- Drugs
What is Brugada syndrome?
A condition causing a Right Bundle Branch Block (RBBB) which shows up as ST elevation on ECG leads V1-3
What are the cardiac features of Marfan’s Syndrome? [3]
- Mitral Valve Prolapse leading to MR
- Aortic Root dilatation (can be aneurysm)
- Aortic Dissection
How is suspected Marfan’s investigated? [5]
Echo - to inspect aortic root and clarify the murmurs
MRI - Of the Lumbar Spine for Dural Ectasia
Pelvic X-Ray - For Protrusio Acetabuli
CXR - Pneumothorax
Genetics Test - Fibrillin 1 mutation.
How is Marfans Managed? [5]
Firstly, with an annual clinical review in which clinical features are assessed for progression and an echo is used to check on the aortic root & valves.
Also B blockers - CCBs - ARBs - ACEIs to control stress on heart
Warfarin if the mitral valve is replaced by a prosthetic (see valvular disease)
Lifestyle changes - Avoid heavy exertion & contact sports
Prophyllactic Aortic Surgery
When would we conduct prophyllactic aortic surgery on a marfans patient?
When the sinus of valsalva > 5.5cm or grows 5% a year.
Or if >4cm in a pregnant woman
What are some marfan-related syndromes? [4]
Loeys-Dletz Syndrome
Marfan Syndrome Type 2 (non-ocular)
Familial Thoracic Aortic Aneurysms
MASS Phenotype (marfans without skeletal involvement)
How do we treat Long QT syndrome? [3]
K+ Supplements
Na+ Channel Blockers - Type 1b anti arrythmics
