Estimated reading time: 9 minutes
This blog post accompanies a two part podcast series discussing Adult Congenital Heart Disease (ACHD) and how these patients may present to the Emergency Department (ED).
Dr Sam Fitzsimmons, our guest on the podcast, is a Consultant in Adult Congenital Heart Disease at University Hospital Southampton.
You can listen to Part 1 here or via your usual podcast provider.
Part 2 is here
I would also thoroughly recommend you read Simon’s post that we published a few years ago.
With advances in paediatric cardiac surgery, more and more patients with complex congenital heart disease are surviving to adulthood: in the 1950s you might expect a survival rate of about 10%, whereas now this is more like 85%. In fact, there are more patients in the adult congenital heart disease population than there are in the paediatric one (with 2.3 million adults vs 1.9 million children in Europe).
Many patients with Adult Congenital Heart Disease are young and able to live a relatively normal life. This means that they can travel and take part in just the same sort of activities as those without ACHD. They may well turn up in your Emergency Department one day, regardless of whether you are a tertiary centre or a district general hospital (DGH).
They are experts, and know their disease well, but this does not abstain you from a responsibility to know about them too! When these patients become unwell, they can go downhill very fast and you may not have the chance to discuss with them their exact lesion and its management.
The anatomy and physiology of these patients is abnormal, so they may present in atypical ways, and may not respond to usual medical interventions: in fact, some of our usual treatments may even be harmful.
However, as we emphasise in the podcasts starting with our usual ‘ABC’ approach is by far the best way to go, whilst gathering more information and contacting their specialist centre. Many patients will have their last clinic letter and ECG with them (which will also have the direct dial number of their specialist). And if they, or their relative, say there is something wrong you must believe them and do all you can to make sure they are fully investigated.
The presence of scars may give you some clues as to the patient’s underlying condition and previous surgical repairs. (BMJ 2016; 354: i3905)
A General Approach
- Do your usual ABC assessment.
- Pay particular attention to the respiratory rate – this should be normal.
- Give oxygen if they look unwell.
- They should have a ‘normal’ blood pressure – any hypotension should be taken as abnormal and investigated.
The Fontan Circulation
This is not a condition in itself, but in fact the resulting circulation after a series of operations that could’ve been performed due to a number of different underlying conditions:
- Tricuspid Atresia
- Double Inlet Left Ventricle
- Atrio-ventricular Septal Defect – unbalanced
- Pulmonary Atresia
- Hypoplastic Left Heart Syndrome
In essence these patients are born with a single functioning ventricle, that has to be utilised to supply the systemic side of the circulation, whilst the Fontan acts as a passive means of returning blood to the pulmonary circulation.
It was first devised in the early 1970s by Dr Francis Fontan, so the majority of patients with this are in their mid thirties and younger.
To understand this further watch this incredibly cool video from the team at Cincinnati Children’s Hospital
Potential reasons for admission to the ED – Fontan circulation
As the patient is entirely dependent on their systemic ventricle to work optimally, any disturbance of the delivery into it is very poorly tolerated. Thus, any arrhythmia is life threatening, even a mild atrial tachycardia.
These patients need to be returned to sinus rhythm as quickly as possible and the recommended method for this is DC cardioversion in expert hands.
Fontan patients have an incredibly fragile circulation and any change in their respiratory physiology can be life threatening, especially if it increases their pulmonary pressures (and thus prevents the passive flow within the Fontan circulation). These patients are not candidates for sedation in the ED and should have an experienced anaesthetist to manage them during the procedure.
Beware if the patient comes in and tells you they are fasted! This means they have been in this situation before and needed DC cardioversion.
Over time the patient develops venous hypertension within the Fontan connection. This causes the formation of collateral vessels, that may link into the bronchial arterial tree.
If the patient presents in shock treat them as you would any other patient with emergency blood transfusion.
Any haemoptysis, however small, may herald the beginning of a massive bleed. These patients need further investigation, probably a CT chest with contrast. These vessels may then be coiled by interventional radiology.
If the patient has a non fenestrated Fontan they should have normal oxygen saturations. However, if there is a fenestration there will be shunting and therefore a reduction in oxygenation.
For patients this is trade of between being pink or blue, each of which have complications.
Again, this is a description of the patient’s circulation, rather than a lesion itself. This results from a shunt that is still open between the systemic (high pressure) and pulmonary (low pressure) circulation, that over time have lead to severe pulmonary vascular disease and pulmonary hypertension. This results in a bidirectional shunt between your systemic and pulmonary circulations, causing cyanosis.
Potential causes include
- An unrepaired atrioseptal defect
- An unrepaired ventriculoseptal defect
- A patent unrepaired ductus arteriosis
Previously, these may not have been offered repair as at the time (up to 50 years ago) it was felt that the patient’s projected survival was not beyond adulthood. However, this was incorrect and many did live into adulthood. Some are also detected late, depending on where they live and the local healthcare system. Later in life these are unable to be repaired as the lung pressures are too high to safely close the shunt.
Potential reasons for admission to the ED – Eisenmenger syndrome
1, Pulmonary complications
Any condition that can reduce the patient’s oxygen saturations, such as pneumonia or pulmonary embolism can cause these patients’ significant problems. These patients need oxygen to help reverse this and you should not hesitate to give them this.
Take their respiratory rate seriously – this should be normal when they are well
2, Venous-arterial communication
Be careful when gaining venous access – anything from the venous circulation can go into the systemic emboli, causing paradoxical emboli. This could either be air of infection entering the cerebral circulation.
Any infection on the venous side of the circulation, however minor, must be treated aggressively. Inflammatory markers can be useful.
Take subtle neurological changes seriously – cerebral abscesses may present with even a mild change in emotional mood or affect.
3, Give their usual medication
These patients may be on pulmonary vasodilators, such as Sildenafil/Viagra. This is taken three times a day for pulmonary hypertension and must be continued.
Transposition of the Great Arteries
Here the patient is born with two separate circulations, one on the pulmonary side and one on the systemic side, but with no connection between them. Clearly, this is incompatible with life, unless there is a patent connection between these circulations (a patent ductus arteriosus and an atrial septal communication).
Here the patient is born with two separate circulations, one on the pulmonary side and one on the systemic side, but with no connection between them. Clearly, this is incompatible with life, unless there is a patent connection between these circulations (a patent ductus arterious and an atrial septal communcation).
These patients will have had a atrial switch procedure if born before 1985. After this time the patients will have had an arterial switch.
Potential reasons for admission to the ED – Transposition of the Great Arteries
1, Heart Failure
The morphological right ventricle is having to function as the systemic ventricle and so is very fragile: it simply wasn’t made for the job.
There is not enough data on patients with ACHD in heart failure to know quite what treatment is right for them, but we should use our usual medications:
- Non invasive ventilation
If these patient’s hearts are failing, despite maximal medical therapy the only option may be a heart transplant.
Like the patients with a Fontan circulation they will not be able to sustain a circulation if there is compromised ventricular filling.
These patients often have large amounts of scar tissue following their operative correction, leading to a susceptibility to arrythmias and A-V dissociation. This means that beta blockers must be used with caution.
Again, DC cardioversion may be the preferred choice, unless they have previously had success with certain agents previously.
Coarctation of the Aorta
This is a section of narrowing of the aorta, usually at the site where the ductus arteriosus inserted just distal to the subclavian artery.
Often younger patients presenting with a variety of conditions, such as abdominal pain or lower limb claudication, or perhaps uncontrolled hypertension.
A repaired cooarctation is not ‘cured’ and are risk of persistent hypertension, they may have a concomitant bicuspid aortic valve (that may stenose later in life) and there is a 10% association with berry aneurysms.
Surgical techniques include:
- End-to-end anastomosis
- Prosthetic patch aortoplasty
- Aortic interposition graft
- Bypass jump grafts from ascending to descending aorta
Potential reasons for admission to the ED – Coarctation of the Aorta
There is the potential of aneurysm formation at the site of the repair, which may the form a fistula with the bronchial arterial system. Even a small bleed could be the heralding event for a massive haemoptysis.
2, Stent restenosis
Patients may present with symptoms of the original coarctation.
Sam’s Take Home Points
- Univentricular circulation
- Sinus rhythm
- DC cardioversion
- Contact specialist centre early
- Venous to arterial connection
- Neurology change think cerebral infection
- Simple procedures can be life threatening
Transposition of the Great Arteries
- Right ventricle is a systemic ventricle
- Sinus rhythm
Coarctation of the Aorta
- Repaired but need follow up
- Haemoptysis may herald life threatening bleed
- Low threshold to CT chest
- Discuss with specialist centre.
Dr Sam Fitzsimmons
Sam is a Consultant Cardiologist in Adult Congenital Heart Disease (ACHD) at the University Hospital Southampton, UK. Sam also subspecialises in pulmonary hypertension and maternal cardiology. Working within a tertiary surgical ACHD centre, Sam delivers an ACHD on call service for emergency admissions, inpatient care, routine outpatient follow-up, intra-operative imaging and post-surgical care, as well as specialist clinics in Pulmonary Hypertension and Maternal Cardiology. Sam holds a Honorary Senior Clinical Lecturer post with the University of Southampton as she is passionate about teaching and in particular, she is enthusiastic about helping demystify congenital heart disease for non-specialists to help improve patient care. Sam is well published in peer review journals, cardiology textbooks and specialist guidelines.
- Simon Carley, “Adult Congenital Heart Disease in the ED. St Emlyn’s” in St.Emlyn’s, March 3, 2019,