Presentations
- Arrhythmia
- Chest pain
- Family history
- Fever
- Heart failure (breathlessness/poor feeding/reduced exercise capacity)
- Palpitations
- Syncope
Conditions
- Inherited aortopathies:
- familial thoracic aortic aneurysm syndrome
- Loeys-Dietz syndrome
- Marfan syndrome
- vascular Ehlers-Danlos syndrome
- Inherited arrhythmias:
- arrhythmogenic right ventricular cardiomyopathy (ARVC)
- Brugada syndrome
- channelopathies
- CPVT
- long QT syndrome
- Inherited cardiomyopathies:
- dilated
- hypertrophic/sarcomeric (e.g. Fabry)
- left ventricular noncompaction cardiomyopathy (LVNC)
- Lipid disorders
For each presentation and condition, Advanced Trainees will know how to:
Synthesise
- recognise the clinical presentation
- identify relevant epidemiology, prevalence, pathophysiology, and clinical science
- take a comprehensive clinical history
- conduct an appropriate examination
- establish a differential diagnosis
- plan and arrange appropriate investigations
- consider the impact of illness and disease on patients and their quality of life when developing a management plan
Manage
- provide evidence-based management
- prescribe therapies tailored to patients' needs and conditions
- recognise potential complications of disease and its management, and initiate preventative strategies
- involve multidisciplinary teams
Consider other factors
- identify individual and social factors and the impact of these on diagnosis and management
Presentations
- Arrhythmia
- Chest pain
- Family history
- Fever
- Heart failure (breathlessness/poor feeding/reduced exercise capacity)
- Palpitations
- Syncope
Conditions
- Heart disease associated with syndromes (e.g. Trisomy 21, Williams syndrome)
- Infiltrative cardiomyopathy (e.g. cardiac amyloidosis, hereditary transthyretin)
For each presentation and condition, Advanced Trainees will know how to:
Synthesise
- recognise the clinical presentation
- identify relevant epidemiology, prevalence, pathophysiology, and clinical science
- take a comprehensive clinical history
- conduct an appropriate examination
- establish a differential diagnosis
- plan and arrange appropriate investigations
- consider the impact of illness and disease on patients and their quality of life when developing a management plan
Manage
- provide evidence-based management
- prescribe therapies tailored to patients' needs and conditions
- recognise potential complications of disease and its management, and initiate preventative strategies
- involve multidisciplinary teams
Consider other factors
- identify individual and social factors and the impact of these on diagnosis and management
- Fundamentals of human inheritance
- Molecular pathophysiology of common inherited heart diseases
- Principles of molecular genetics and genetic testing
- Prognosis of genetic syndromes and their associated cardiac disorders
Investigations
- Antenatal genetic testing
- Cascade testing
- Genetic testing results, including interpretation and application (e.g. amniocentesis, CGH array, WES testing)
- MRIs, including the use of late gadolinium
- Screening and monitoring of blood tests for lipid disorders/familial hypercholesterolemia
- Screening processes for common inherited heart diseases, including ECGs of family members and/or echocardiograms as required
Procedures
- Adrenaline challenge
- Appropriate referral for tissue/skin/muscle biopsies
- Discuss risk of sudden cardiac death and risk of aortic dissection, including the use of risk calculators as appropriate
- Indications for referral to genetic services for ongoing counselling and management
- Initiate appropriate drug therapy in patients with lipid disorders and familial hypercholesterolemia
- Recommendations for lifestyle and activity, including exercise
- Refer as appropriate for surgery and/or insertion of implantable cardiac defibrillator
- Importance of keeping abreast of advances in genetics
- MDT approach, including interfaces with psychology/genetic counselling
- Likelihood of recurrence in parents' subsequent children and offspring of the individual, including possibility of prenatal diagnoses
