Category: HEARTe

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Referral and follow up

All patients should have access to a local cardiologist and should also receive at least one initial assessment at a specialist CHD centre. Adults with moderate or severely complicated CHD should have their care shared between their local centre and a specialist CHD centre.

Patients with CHD require lifelong follow up. Emphasis is on quality and longevity of life rather than cure.

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Treatment options

• Surgical Management: Many patients receive surgery when they are babies or during childhood. For some patients this involves multiple surgeries. There are very few operations that offer a “cure” for their heart defect and instead these are described as palliative operations or repairs. As adults, the decision to offer surgery depends on a number of factors. Patients require regular reviews to look for changes in their symptoms, haemodynamic status or exercise tolerance, and reviewing echo and MRI imaging for evidence of changes in their heart. Some of these operations include valve replacements or repairs, aortic root replacements, coractation repairs, closing ASD’s or VSD’s and. in some cases, heart or heart and lung transplantation.
• Trans Catheter: There have been many advances in transcatheter interventions in recent years which provide an opportunity for some patients to receive a much less invasive treatment. For example, some ASDs, VSDs, and PDAs can be closed with devices and some coarctations of the aorta and stenosed pulmonary arteries can be stented, all through a transcatheter approach.

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Complications

Heart failure

Heart failure is a common problem for CHD patients and, due to the lack of research into heart failure specifically in the congenital context, ESC guidelines suggest that patients are treated in line with current, general heart failure management recommendations. However, the effectiveness of these treatments (particularly for patients with systemic right ventricles or Fontan circulations) is unknown.

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Arrhythmias

Arrhythmias are the main reason for hospitalisation in ACHD patients. Arrhythmias are often a sign of haemodynamic deterioration in CHD patients and they often need urgent Direct Current Cardioversion (DCCV), particularly in the case of patients who have Fontan circulations. Antiarrhythmic drug therapy is often poorly tolerated due to the negative inotropic effects.

Individuals with unexplained syncope (particularly in patients with Tetralogy of Fallot; Transpostion of the Great Arteries and congenitally corrected Transposition of the Great Arteries; Univentricular hearts; and Aortic Stenosis) are at highest risk of sudden cardiac death.

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Pulmonary Arterial Hypertention (PAH)

The development of PAH occurs in patients who have untreated systemic to pulmonary shunts (blood flowing through a defect in the heart from the left side to the right side of the heart).

In cases such as Eisenmenger’s Syndrome this shunting process eventually leads to PAH and causes irreversible damage to the lungs which then, in turn, results in a reversal of the shunting. This reversal (blood flowing from the right side of the heart, through a defect and into the left side of the heart) results in the patient becoming cyanosed.

Patients who have PAH in the context of CHD can be offered drug therapies, which need to be managed by a specialist congenital centre. These medications include prostanoids, endothelin receptor antagonists (ERAs) and phosphodiesterase type-5 inhibitors.

Patients with PAH and cyanosis require complex management and the condition will involve multiple organs. Some factors to consider (as per ESC guidelines):

• High risk of both clotting and bleeding. High risk of cerebral events and abscesses. Should receive prophylactic antibiotics for high risk dental procedures.
• Important to keep hydrated and avoid acute exposure to heat such as saunas, hot tubs etc. Avoid iron deficiency and anaemia, respiratory infections and agents that can lead to renal impairment.
• Avoid pregnancy, moderate to severe strenuous exercise and high altitude.
• Use air filters in IV lines to prevent air embolisms, as high risk of entering system.

Definition of Congenital Heart Disease:

A cardiac disease or condition that has been present since birth.

Causes

In the majority of cases the cause of a congenital heart condition is unknown. However, there are certain factors which are associated with an increased risk:

• 17% are associated with other syndromes (Downs Syndrome, DiGeorge and Williams)
• Certain medications, alcohol or drug abuse
• Maternal viral infections in the first trimester (such as Rubella)
• Type 1 and 2 diabetes

Different presentations

Most lesions are detected when the baby is under one years old (60%) and some conditions can be detected before the baby is born, on the mothers 18-20 week foetal scan. However, 10% are not detected until later on in adulthood.

For those adults who are unaware that they have congenital heart disease (CHD), they may present with arrhythmias: syncope or palpitations: chest pain: increasing shortness of breath: heart failure: and/ or hypertension. Some patients present for the first time during pregnancy or their condition is an incidental finding when the patient is having investigations for other reasons.

Prevalence

Historically, babies born with CHD had very poor chances of surviving into adulthood. However, with advances in medical management and paediatric surgery, and with improvements in imaging techniques, such as echocardiograms and MRI, there are now more adults than children with CHD and 96% of babies diagnosed are surviving into adulthood.

Approx 1% of the population, or 1 in every 145 births, will have CHD. Some conditions are more prevalent than others, for example, atrial and ventricular septal defects (ASDs and VSDs) being the most common.

It is estimated that there are approximately 150,000 adults in the UK living with CHD.

Investigations

There are a number of investigations that are used when diagnosing, assessing and managing the treatment of a patient with CHD.

CHD Investigations

ECG	Should be routinely carried out at every hospital clinic appointment. 24 hr holter monitors should be used when patients report symptoms of palpitations or there is any suspicion that the patient may have an arrhythmia.
Transthoracic echocardiogram	This is the first-line investigation for congenital patients. Ideally, a sonographer should be trained to scan CHD patients.
Transoesophageal echo (TOE)	Used during invasive procedures, prior to direct current cardioversion (DCCV) and also in cases where there is a suspicion of infective endocarditis (IE).
Cardiopulmonary exercise test (CPET)	Is a tool used to assess base line exercise tolerance and/or detect changes or a deterioration in a patient. It is used to aid decisions around the indication for, and timing of, intervention or surgery. It can also be used a way of measuring the impact an intervention has had on a patient.
Cardiac magnetic resonance imaging (cMRI)	Is an increasingly important tool for diagnosis and assessment of CHD patients. It is not suitable, however, for patients who have non MRI compatible pacemakers or ICD’s
Computed tomography (CT scans)	Can be used as an alternative for those patients who cannot undergo MRI scans. It is also used as the imaging modality of choice in situations such as assessing patient’s coronary arteries. The high doses of radiation that patients are exposed to will limit the number of scans they are be subjected to.
Right heart catheterisation (RHC)	These are carried out in a cath lab and are given to certain patients as part of their assessment. The main purpose of this procedure is to measure the pressures in the four different chambers of the heart, the pulmonary artery and also to assess any shunts that are present across an atrial-septal defect (ASD) or ventricular-septal defect (VSD). The data obtained can assist with planning future medical and/or surgical treatments.
Coronary angiogram	This may be undertaken prior to surgery for men over 40 years, post menopausal women and patients with risk factors of coronary artery disease (CAD).

Gene testing can find:

• Pathogenic mutations. Other family members can then be offered a gene test.
• A variant of uncertain clinical significance (VUS). Uncertainty about a VUS result makes a VUS unreliable for diagnosis and this is only used in selected, individual cases.
• No mutation, therefore, cannot offer a gene test and will not be useful to test other family members.

Genetic testing may:

• provide confirmation of a familial diagnosis
• if a pathogenetic mutation is found, can offer predictive testing for close relatives
• guide discussion around reproductive options
• guide treatment options
• help predict the likely severity of the condition

Cascade (predictive) screening involves testing close relatives of patients diagnosed with inherited cardiac disease, or of a Sudden Cardiac Death victim, by cardiac and genetic assessment. Cascade screening achieves a greater rate of diagnosis than general population screening. Once a diagnosis is confirmed in an individual, testing is extended to first degree and second degree relatives. If relatives test positive, their first and second degree relatives are approached and offered testing, and so on.

Benefits of cascade screening include:

• exclusion of causative mutation in at risk family members – no further clinical screening required if negative gene test
• early detection and treatment of inherited heart disease if found to be mutation positive
• removes continuous uncertainty about whether or not an individual will develop the condition
• can resume “normal” lifestyle if negative for mutation, for example, intensive sport training
• result may guide on-going frequency of of screening/cardiac follow up required
• opportunity to adapt lifestyle if positive for mutation

Genetic counselling is a process by which individuals at risk of a disorder that may be hereditary are informed of the consequences of that disorder, the probability of developing and transmitting it and the ways in which this may be prevented or lessened.

The aims of genetic counselling are to help the individual and family to:

• understand the information about the genetic conditions
• appreciate the inheritance pattern and risk of recurrence
• understand the options available
• make decisions appropriate to their personal and family situation
• make the best possible adjustment to the disorder or risk

Genetic counselling allows information to be made available to “at risk” relatives, promoting early detection and treatment of inherited heart disease in these individuals. It affords the opportunity to address psychological/social/ethical issues which cannot be managed in a routine cardiology clinic.

Definition

Inherited Cardiac Conditions (ICC) refers to a group of conditions caused by monogenetic changes (that is, caused by changes in just 1 or very few genes) that affect the heart, its conducting system and muscle structure.

Prevalence

There is, currently, a lack of epidemiological statistics on ICC but estimates put the prevalence at 500:10,000 (see individual conditions described below.)

Inherited Cardiac Conditions:

• heart muscle conditions which affect the heart muscle and rhythm (cardiomyopathies)
• heart rhythm conditions which cause problems with the heart rate and rhythm (arrhythmias)

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