QuestionSBA
QuestionChoice
The use of CPAP may be indicated in those children with impending respiratory failure, for example, due to bronchiolitis. However, this clinical presentation is more in keeping with a cardiac cause for cyanosis as opposed to a respiratory cause. Although there is minimal improvement with high flow oxygen, and there is a temptation to start a more intense form of respiratory support, it is unlikely to improve the neonate's clinical picture
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Start continuous positive airway pressure (CPAP)
QuestionChoice
A single dose of oral corticosteroid (such as prednisolone or dexamethasone) may be given in the initial treatment of croup. If the child is too unwell to take the steroid orally, it is reasonable to administer it intramuscular (such as dexamethasone) or nebulised (such as budesonide). However, croup is not the most likely diagnosis here as there is no cough, stridor or temperature
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Nebulised corticosteroids
QuestionChoice
Antibiotics would be indicated if you felt that this was an acute infective respiratory diagnosis; however, at four days old and without any other signs of infection and no temperature, this is not the likely diagnosis here. If bronchiolitis was suspected, this would also not necessarily be an indication for antibiotics as bronchiolitis is usually viral in origin, with the management being mainly supportive
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Intravenous antibiotics
QuestionChoice
Nebulised bronchodilators such as salbutamol are used to treat reversible airway obstruction, such as acute asthma exacerbations. As this neonate is only four days old, the concern here is of a cyanotic congenital heart abnormality, and therefore salbutamol is not indicated
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Nebulised salbutamol
QuestionChoice
This baby is likely to have a cyanotic congenital heart abnormality such as transposition of great arteries or tetralogy of Fallot. There is not always a clinically audible murmur present. This typically presents as an increasingly cyanotic newborn in the first few days of life, as the previously patent ductus arteriosus closes and the newborn can no longer rely on it to allow oxygenated blood into the systemic circulation. These babies don't appear to work so hard to breathe compared with babies with lung disease. Another clue that this is less likely to be a respiratory condition is the minimal improvement with high flow oxygen. A prostaglandin infusion will help keep the ductus arteriosus open whilst awaiting specialist input
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Prostaglandin E infusion
QuestionComment
when do you want to close the PDA vs keep it open?
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PDA open if its the only thing keeping them alive i.e. in cyanotic heart diseases like TOF. If they have a PDA that didn't close by itself and no other heart conditions, then you want to close it with indomethacin.
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Imran
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Kinase Power
QuestionComment
If its PDA why was there no murmur heard when listening to heart sounds?
27076
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Acute Dermis
QuestionComment
oh come on, you can't just give us a condition and then give it to us in a rare presentation with no murmur. ffs.
38534
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literally got thrown off becoz no murmur mentioned
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BeethovenVirus-ed
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Imran
QuestionComment
yeh sure lets just whack prostaglandins into a 4 day old baby when we're just guessing whats wrong with them
41415
QuestionComment
get on the wards, mate!
47552
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Retrograde Recessive
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ButtMuncher
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# Summary
 
Congenital cardiac disease refers to a variety of heart abnormalities present at birth, often influenced by maternal risk factors such as infectious disease during pregnancy (e.g. rubella), exposure to teratogenic drugs (e.g. thalidomide, isotretinoin, lithium), substance misuse (e.g., alcohol), and poorly controlled type 1 or 2 diabetes. Identification primarily relies on signs and symptoms observed in newborns, with murmurs often being present, with/without cyanosis, and confirmatory investigations such as echocardiography. Management is typically multidisciplinary and can involve medical therapy, interventional procedures, or surgery, depending on the severity and type of heart defect.
 
 
# Definition
 

Congenital cardiac disease is a general term referring to abnormalities in the heart's structure that arise before birth. These defects can involve the heart walls, heart valves, or the arteries and veins near the heart.
 

# Epidemiology
 

The global incidence of congenital heart disease is estimated to be around 1% of live births, making it the most common type of congenital disorder. 
 

# Aetiology
 

Several factors can contribute to the development of congenital heart disease:
 

-  Infectious causes: 
     -  Maternal rubella infection during pregnancy
-  Teratogenic drugs: 
     -  Exposure to certain medications during pregnancy, such as thalidomide, isotretinoin, and lithium, increases the likelihood of developing congenital heart disease.
-  Substance misuse: 
     -  Maternal misuse of substances such as alcohol can also lead to this condition.
-  Maternal diabetes: 
     -  Poorly controlled type 1 and type 2 diabetes during pregnancy
     -  Maternal gestational diabetes is not a known risk factor 
- Family history of congenital heart disease
    - Risk is also increased in consanguineous couples 

    
# Classification

Congenital heart disease can be divided into cyanotic or acynotic heart disease.

Cyanotic Heart Disease:

-  Transposition of the great arteries (TGA)
-  Pulmonary and tricuspid atresias
-  Tetralogy of Fallot (ToF)
-  Total anomalous pulmonary venous return 
-  Persistent truncus arteriosus
-  Hypoplastic left heart

Acyanotic Heart Disease:

- Ventricular septal defect (VSD)
- Atrial septal defect (ASD)
- Patent ductus arteriosus (PDA)
- Aortic stenosis 
- Pulmonic stenosis 
- Coarctation of the aorta 
- Endocardial fibroelastosis 
 

# Signs and Symptoms
 

Newborns with congenital cardiac disease may present with a variety of signs and symptoms, including:
 

 -  Cyanosis
 -  Fast or troubled breathing
 -  Fatigue
 -  Poor feeding
 -  Delayed growth
 -  Heart murmur on auscultation
 

These symptoms can vary widely depending on the type and severity of the heart defect.
 

# Differential Diagnosis
 

In an infant presenting with the signs and symptoms of congenital heart disease, several conditions should be considered:
 

 -  **Respiratory distress syndrome**: This condition can cause fast, troubled breathing, and fatigue. However, it is typically associated with prematurity.
 -  **Pneumonia**: Can also lead to breathing difficulties and fatigue, but it is often accompanied by fever and abnormal lung sounds on auscultation.
 -  **Gastrointestinal disorders**: These can cause poor feeding and delayed growth but are typically accompanied by vomiting, diarrhoea, or abdominal distension.
 

# Investigations
 

Whilst some cases are detected during prenatal scans, many cases are detected after birth. The following investigations are key to diagnosing congenital heart disease:
 

 -  Pulse oximetry: To detect low oxygen levels in the blood. This should be measured both pre and post-ductal, with > 3% difference being significant.  
 -  Chest X-ray: Can reveal an enlarged heart or abnormal heart shape.
 -  Electrocardiogram (ECG): Can detect abnormal heart rhythms.
 -  Echocardiogram: The gold standard in diagnosing congenital heart disease, providing a detailed image of the heart's structure and function.
 

# Management
 

The management of congenital heart disease is complex and depends on the type and severity of the heart defect.

Red flag features require more urgent management. These features include:

- Lower limb saturations < 96%
- More than 3% pre/post ductal difference 
- Signs of heart failure or shock


It typically involves a multidisciplinary team and can include:

-  Conservative management:
     -  For certain defects (i.e. mild atrial septal defects, a watch-and-wait approach may be adopted as many will close by age 1)

- Medical management:
    - Some patients will require medications including diuretics and ACE inhibitors depending on the type of congenital heart disease. 
- Interventional procedures: Catheter-based procedures to repair certain types of heart defects.
 
- Surgical intervention: For more complex or severe heart defects, surgery may be necessary.

# Complications

Depending on the type and severity of congenital heart disease, potential complications include:

- Learning difficulties
- Pneumonia 
- Infective Endocarditis 
- Pulmonary hypertension 
- Heart failure 

Sudden cardiac death is very rare. 

# Prognosis

Surgically corrected congenital heart disease, particularly when isolated, has a good prognosis, however, there is still a reduced life expectancy when compared to the general population. 

# NICE Guidelines

[NICE Guidelines on Structural Heart Defects](https://www.nice.org.uk/guidance/conditions-and-diseases/cardiovascular-conditions/structural-heart-defects) 

 
#  References
 
 [NHS Congenital Heart Disease](https://www.nhs.uk/conditions/congenital-heart-disease/#:~:text=Congenital%20heart%20disease%20is%20a,babies%20born%20in%20the%20UK.) 
 
 [British Heart Foundation Congenital Heart Disease](https://www.bhf.org.uk/informationsupport/conditions/congenital-heart-disease) 
 
 [Patient Info Congenital Heart Disease in Children](https://patient.info/doctor/congenital-heart-disease-in-children) 
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Maternal risk factors for congenital heart disease
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Maternal risk factors for congenital heart disease
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Maternal risk factors for congenital heart disease
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Maternal risk factors for congenital heart disease
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Prostaglandin E infusion is used in cyanotic cardiac conditions, such as transposition of the great arteries or tetralogy of Fallot, to maintain the patency of the ductus arteriosus, which helps ensure adequate mixing of oxygenated and deoxygenated blood
A new mother presents to the Emergency Department with her four-day-old child, concerned about his breathing and colour. Initial observations are as follows:

- Temperature 36.8°C
- Heart rate 200 bpm
- Blood pressure 80/50 mmHg
- Respiratory rate 80 bpm
- Oxygen saturations 80% (on room air), which improves to 85% on 100% oxygen.

The neonate is a mottled blue colour, but lung fields are clear on auscultation, and heart sounds are normal. Alongside your initial A-E assessment, what other treatment is important to initiate in this case?
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