Congenital Heart Disease

Question 1

What is the incidence of congenital heart disease?

Answer 1

~1 in 125 live births

Question 2

Describe how the survival rate in congenital heart disease has changed.

Answer 2

• Historic survival rates are low
  
  • 1960 >50% died before 1st birthday
  • 20% reached age 18
• Current survival rates
  
  • >85% now reach age 18

Question 3

What are the current challenges of the adult congenital heart disease population?

Answer 3

• Increased population size
  
  • Services are trying to develop / keep up with demand.
• Increasing in complexity
  
  • New interventional techniques
  • No significant evidence base for guidelines
• Increasing age
  
  • Increased incidence of acquired heart disease
  • Increased complexity

Question 4

What are the characteristics of the adult congenital heart disease population?

Answer 4

• Young
• Medically complex
  
  • Congenital heart disease can be very complex
  • Coupled with other congenital abnormalities
• Significant incidence of learning disabilities
  
  • Syndromes
  • Other congenital abnormalities
• Psychological issues

Question 5

What are the 5 most common congenital heart defects?

Answer 5

• Bicuspid aortic valve
• Atrial septal defect
• Ventricular septal defect
• Tretralogy of Fallow
• Coarctation of the aorta

Question 6

Describe the pathophysiology of a bicuspid aortic valve?

Answer 6

• Turbulent flow which leads to valve thickening and stiffening.
• Ultimately, valvular dysfunction (earlier than typical degenerative aortic valve disease).
• Can be associated with aortic dilatation.
• Can be associated with coarctation.
• Treatment - as for degenerative aortic valve disease (AVR +/_ aortic surgery).

Question 7

Describe the progression of atrial septal defect.

Answer 7

• Often well-tolerated until 4th/5th decade
• Closure indicated if the right heart is dilated (and become breathless on exertion).

Question 8

What interventions can be done in the event of atrial septal defect?

Answer 8

• Percutaneous closure
• Surgical closure

Question 9

Describe the progression of a patient with ventricular septal defect.

Answer 9

• Small VSDs may be well-tolerated and may not require closure.
• Closure may be required if there is evidence of decompensation (dilated ventricles).

Question 10

What interventions can be carried out to repair ventricular septal defect?

Answer 10

• Surgical closure
• Percutaneous closure

Question 11

Describe Tetralogy of Fallot.

Answer 11

• Four components:
  
  • ​Ventricular septal defect
  • Pukmonary stenosis (subvalvular, valvular and/or supravalvular)
  • An overriding aorta
  • Right ventricular hypertrophy

Question 12

Describe overriding aorta.

Answer 12

• The aorta sits just above the ventricular septal defect which means that there is a mixture of oxygenated and deoxygenated blood going into the systemic circulation.
• Patient can become cyanotic and pass out.

Question 13

Describe the presentation of Tetralogy of Fallot.

Answer 13

• Infants present with cyanosis
• Children have ‘tetralogy spells’:
  
  • Cyanotic
  • Tired, groggy → unresponsive
  • Irritable
• Spells relieved by squatting

Question 14

Describe coarctation of the aorta.

Answer 14

• Significant narrowing of descending aorta.
• Can present dramatically in infancy.
• Can present later in life as hypertension with a murmur.

Question 15

What are the long-term complications of congenital heart disease?

Answer 15

• Heart failure
• Valvular dysfunction
• Arrhythmias

Question 16

What is heart failure?

Answer 16

• Valve dysfunction
• Ventricular dysfunction
  
  • Left ventricular
  • Right ventricular
  • Morphological right ventricle functioning as left ventricle

Question 17

What are the treatment options for heart failure?

Answer 17

• Medical therapy
  
  • ACE inhibitors
  • β-blockers
  • Diuretics
• Cardiac resynchronisation therapy
• Left ventricular assist device
• Transplant

Question 18

Describe cardiac resynchronisation therapy.

Answer 18

Insertion of electrodes into the left and right ventricles of the heart, as well as on occasion the right atrium, to treat heart failure by coordinating the function of the left and right ventricles.

Question 19

Describe left ventricular assist device?

Answer 19

Question 20

What can happen often post repair of Tetralogy of Fallot?

Answer 20

Pulmonary regurgitation can happen post-repair of Tetralogy of Fallot.

Question 21

Give examples of atrial arrhythmias.

Answer 21

• Atrial fibrillation
• Atrial flutter
• Supraventricular tachycardia

Question 22

Give examples of ventricular arrhythmias.

Answer 22

• Ventricular tachycardia
• Ventricular fibrillation

Question 23

Why do people get arrhythmias?

Answer 23

• Due to:
  
  • Atrial dilation
  • Ventricular dilation
  • Scar tissue following surgery

Question 24

What are the treatment options for arrhythmias?

Answer 24

• Medication (for tachyarrhythmias)
  
  • β-blockers
  • Digoxin
  • Amiodarone
• Pacemaker (for bradyarrhythmias)
• Implantable cardiac defibrillator
  
  • For ventricular arrhythmias
  • Provides pacing capability also
  • Can be combined with cardiac resynchronisation therapy (CRT)

Question 25

What are the potential limitations in treating arhythmias?

Answer 25

* Certain antiarrhythmias are contraindicated in structurally abnormal heart. * Flecainide * Dronedarone * Complex plumbing can limit pacing devices.

Question 26

What are the most common reasons for an adult congenital heart disease patient to present in primary care?

Answer 26

* Contraception * Pregnancy * Exercise * Endocarditis prophylaxis

Question 27

What are the considerations surrounding conception in patients with adult congenital heart disease?

Answer 27

* **Contraception** * **​**Must be reliable * Efficacy * Compliance * Crucial for some patients * Pregnancy may be advised against * Pregnancy may need to be planned / timed

Question 28

What are the considerations surrounding specific contraception types in patients with adult congenital heart defect?

Answer 28

* Oestrogen-containing preps may be hazardous * Hypertension is hazardous in repaired coarctation and aortic dilation * Thrombogenic - contraindicated in, for example, Fontan circulation. * Progesterone-only preps can be a PITA * Short time window * Depot and implant efficacious and 'easy' * IUCD * Intense vasovagal - problematic in Fontan circulation

Question 29

Describe the haemodynamic changes in pregnancy.

Answer 29

* Cardiac output inceases the most. * Heart rate increases, then plateaus. * Stroke volume increases more slowly but overtakes heart rate and the HR plateua.

Question 30

What must be considered in a pregnant patient with adult congenital heart disease?

Answer 30

* Haemodynamic changes * Pregnancy * Labour * Delivery * Increased risk to mother and fetus * Risk of recurrence of congenital heart disease * ~5-6% * Certain defects may be familial (e.g. bicuspid aortic valve) * Pregnancy is the **mother's decision** - informed choice * When is it 'not safe'? *(Risk of maternal death)* * E.g. severe pulmonary hypertension / Eisenmenger's syndrome *(50%)* * E.g. severe obstructiv lesions *(17%)* * Counsel against pregnancy - not a ban! * Joint antenatal care (obstetrics, cardiology, anaesthetics)

Question 31

Which medications should a pregnant woman who has adult congenital heart disease be taken off?

Answer 31

* ACE inhibitors - can cause real problems for fetus * Warfarin

Question 32

Describe the considerations surrounding exercise for a patient with adult congenital heart disease.

Answer 32

* Generally safe within symptomatic limits. * Change in exercise tolerance is an important guide to the timing of further investigation or treatment. * Heave weights not good (especially in aortopathy). * Breath holding is not good in Fonta circulation. * Contact sports **must consider:** * **​**Warfarin * ICD

Question 33

Under what circumstances would endocarditis prophylaxis be necessary in a patient with adult congenital heart disease?

Answer 33

* Previous endocarditis * Valve replacements * Mechanical * Biological * \<6/12 after placement of prosthetic material * Residual intracardiac shunts at/near the site of previous repair with prosthetic * Uncorrected cyanotic heart disease

Question 34

What aspects of everyday life are impacted by adult congential heart disease?

Answer 34

* Exercise, choice of sports * Travel * Driving * Employment * Alcohol/drugs * Tatoos/piercings * Decision to have a family * Scars * Relationships

Question 35

What are the psychological issues which can arise as a result of having adult congenital heart disease?

Answer 35

* Early experiences cause problems * Trauma * Always felt different * Older kids in paediatric services * Young adults in 'old person' services * Parental support * Scars * Fear of the future - further surgery? Life expectancy?