QuestionSBA
QuestionChoice
Sickle cell testing may occur if there are other features of the disease, however this is not likely based on the scenario.
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c
Haemoglobin electrophoresis
QuestionChoice
Antiphospholipid syndrome can be part of a 'young stroke' work-up and is known to cause arterial and venous clots, however the history of immobilisation explains the cause of DVT. An investigation is required to uncover why this embolus has moved from the venous to the arterial circulation.
10015755
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Antiphospholipid antibodies
QuestionChoice
This may be tested for as part of a 'young stroke' work-up, although the history of immobilisation explains the DVT. However, an investigation is required to uncover why this embolus has moved from the venous to the arterial circulation.
10015752
b
Factor V Leiden testing
QuestionChoice
Tests for myeloma or other paraproteinaemias may occur as part of a 'young stroke' work-up, however the history of immobilisation explains the DVT. However, an investigation is required to uncover why this embolus has moved from the venous to the arterial circulation.
10015754
d
Serum protein electrophoresis
QuestionChoice
Thrombi in the venous circulation (e.g. DVTs) tend to stay within the veins and cause pulmonary emboli. In this case, the thrombus appears to have moved into the arterial circulation, causing a stroke. A reason for this could be a cardiac defect such as a patent foramen ovale, which would be detected on a bubble echocardiogram.
10015751
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Bubble echocardiogram
QuestionComment
What's this doing in paediatrics?!
34727
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Congenital cardiac anomalies are a paediatric topic (since usually are detected in childhood). Sometimes they are detected late (ie. in this 29y F). That's the rationale behind their categorisation. :) 
36297
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Botox Haemophilus
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CT everyone 
QuestionComment
good damn question! I didn't read it properly
38545
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Jargon Hereditary
QuestionComment
this question gave me a stroke 
38895
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Brenicus Callanders
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shout out to the ox medics who have finals in less than a week, pls tell me you also got this wrong :'(
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Kinase Complement
QuestionComment
great question!
40568
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TheodorA
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bruvvvv snafu hadsbfhasfdsdfdf
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Britney Spears
QuestionComment
Hayley Bieber had a TIA and had this bubble echo done if anyone wants a story to go with PFO! It's on her Youtube :)
46386
QuestionComment
Saw that too! She told her story so well, and took us through all the clinical details which was fun
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Myopathy Lateral
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Palatopterygoquadrate
QuestionComment
What a difficult question! :)
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Serotonin Ventral
Concept
Chapter
# Summary
 

Atrial septal defect (ASD) is a prevalent cardiac malformation caused by a hole in the septum secundum during development, leading to communication between the left and right atria. Patients may be asymptomatic, but often an ejection systolic murmur can be incidentally discovered on auscultation. ASDs are typically confirmed by echocardiogram, and management can range from conservative to surgical interventions, depending on the severity of the defect. Routine echocardiograms are employed for ongoing surveillance. Major complications can include heart failure and paradoxical embolisms.
 

# Definition
 

An atrial septal defect (ASD) is a cardiac malformation where a hole exists between the left and right atria. This is commonly due to a defect in the septum secundum during cardiac embryonic development.
 

# Epidemiology
 

ASD is a common congenital heart defect, accounting for approximately 10% of all cases of congenital heart disease. Patent foramen ovale is believed to be present in 15-35% of the adult population. The prevalence is higher in females compared to males in a 2:1 ratio. 
 

# Aetiology
 

The development of an ASD arises from the malformation of the septum secundum during embryonic cardiac development. The majority are idiopathic and sporadic, with no known underlying cause.  

Risk factors include:

- Maternal alcohol consumption and smoking in the first and second trimester 
- Rubella infection during pregnancy
- Maternal diabetes
- Family history of secundum ASD 
- Certain syndromes (i.e. Noonan's syndrome, Down's syndrome)
 
 
#  Classification
 
- Secundum ASD
     - A defect in the fossa ovalis 
     - The **most common** form of ASD.
- Primum ASD
     - Defect in the lower atrial wall.
     - Often accompanied by mitral valve abnormalities or part of atrioventricular septal defects (AVSD). 
- Sinus Venosus ASD
     - Associated with pulmonary vein abnormalities 
 

# Signs and Symptoms
 

-  Often asymptomatic.
-  Incidental finding of an ejection systolic murmur on auscultation, loudest on the lower-left sternal edge, due to the flow of blood through the pulmonary valve.
-  Decompensated patients may present in heart failure with signs and symptoms such as shortness of breath, fatigue, oedema, and rapid heart rate.
-  On auscultation, there may be: 
     -  Fixed (does not vary with respiration) split second heart sound
     -  Soft systolic ejection murmur heard best at upper left sternal border 
 

# Differential Diagnosis
 

 -  **Ventricular septal defect**: Characterised by a loud holosystolic murmur at the left lower sternal border, possible cyanosis, and potentially failure to thrive in infants.
 -  **Patent ductus arteriosus**: Noted by a continuous "machinery" murmur, wide pulse pressure, and bounding pulses.
 -  **Pulmonic stenosis**: Presents with a systolic murmur at the left upper sternal border, and there may be cyanosis with severe stenosis.
 

# Investigations
 

- ECG:
    - May be normal or show tall p waves due to right atrial enlargement 
- Chest x-ray:
    - Typically normal, but if the defect is large, cardiomegaly may be seen.
- Echocardiogram:
    - Diagnostic investigation
    - May reveal abnormal blood flow between the atria
- Further imaging may be done based on specialist advice (i.e. cardiac MRI) 
 

# Management
 

 -  Management strategies depend on the severity of the lesion.
 -  Most ASDs are managed conservatively.
 -  Surgical closure of the ASD, or via a transcatheter approach, may be necessary for larger defects or those causing significant symptoms or complications.
 -  Routine echocardiograms are used to monitor ASDs for changes over time.
 

# Complications
 

 -  Heart failure: typically develops in patients' twenties or thirties if the ASD is left untreated.
 -  Paradoxical embolisms: this occurs when a blood clot passes from the right side of the heart to the left through an ASD, potentially leading to a stroke.
 -  Migraine 
 -  Pulmonary vascular disease
 -  Atrial fibrillation and flutter 

#  Prognosis
 
If surgery is indicated, most patients will have a normal life expectancy following surgical intervention. Isolated ASDs have overall greater prognosis than when associated with additional structural defects. Poor prognosis is seen in patients who develop pulmonary vascular disease. 

# NICE Guidelines

[NICE Guidelines on Endovascular closure of atrial septal defect](https://www.nice.org.uk/guidance/ipg96) 
 
 
# References
 

 [Information from the British Heart Foundation](https://www.google.com/url?sa=t&rct=j&q=&esrc=s&source=web&cd=&ved=2ahUKEwjkhqnzrOPrAhVIe8AKHXXmAboQFjATegQIBhAB&url=https%3A%2F%2Fwww.bhf.org.uk%2F-%2Fmedia%2Ffiles%2Fpublications%2Fchildren-and-young-people%2Fc16understanding-your-childs-heart-atrial-septal-defect0213.pdf&usg=AOvVaw08EipaGMZRboeeJ9xxqbB6)
 
 [Patient Info Atrial Septal Defect](https://patient.info/doctor/atrial-septal-defect-pro)
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Atrial septal defect
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Paediatrics
Video
Concept
508
Atrial septal defect
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Quesmed Tutorial: Congenital Heart Defects
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Atrial septal defect
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Ventricular Septal Defects
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A patent foramen ovale could explain the passage of thrombi from the venous to arterial circulation, causing a stroke.
Presentation
166
Congenital abnormalities
UkmlaTopic
16
Musculoskeletal
A 29-year-old female has a dense left-sided hemiparesis. A CT head shows no evidence of haemorrhage, but an MRI brain shows an area of infarcted tissue. She is found to have a right-sided deep vein thrombosis and has a history of being immobilised following a tibial plateau fracture. She has never had any miscarriages and has no family history of clotting pathologies.

Which investigation is best for confirming why she has had a stroke?
a