Adult congenital heart disease transition — formative SAQs

SAQ 1 (10 marks)

A 17-year-old man with tetralogy of Fallot, repaired at age two, attends a paediatric cardiology clinic for what will be one of his last paediatric visits. He feels well, plays club soccer, and has no symptoms. His most recent echocardiogram shows moderate pulmonary regurgitation with mild right-ventricular dilation. He can name his condition only as "a hole in the heart fixed as a baby" and has never booked his own appointment. [1] [3]

1. Define transition and explain why it differs from transfer, and outline how you would structure his transition over the remaining paediatric visits. (4) [3] [14]
2. State the surveillance he needs as an adult with repaired tetralogy of Fallot, the complexity grade and follow-up interval, and why lifelong follow-up is essential even though he feels well. (3) [1] [2]
3. He is at risk of loss to follow-up. List the risk factors for loss to follow-up in this population and the practical measures that reduce it. (3) [4] [6]

Model answer — SAQ 1

(1) Transition versus transfer, and the structure (4). Transition is the planned, staged, purposeful preparation of the adolescent and family for a move to lifelong adult care; transfer is the single administrative event of the first adult appointment. Transition is the years of work around that event. I would start early, teach him to describe his own anatomy and operation, hand over responsibility for knowing his medications and booking appointments, see him alone for part of each visit, cover adult-life topics (contraception, exercise, alcohol, careers), measure his readiness with a validated tool such as the TRAQ, prepare a written health summary, identify and book a named adult ACHD clinic, and confirm attendance rather than assuming a referral equals engagement. [3] [14]

(2) Surveillance and why lifelong (3). Repaired tetralogy of Fallot is a moderate-complexity lesion needing review at an ACHD centre every one to two years. Surveillance includes a twelve-lead ECG and oxygen saturation, transthoracic echocardiography, and cardiac MRI to quantify right-ventricular volumes and pulmonary regurgitant fraction, which time pulmonary valve replacement; Holter monitoring for arrhythmia and cardiopulmonary exercise testing track decline. Lifelong follow-up is essential because no repair is a cure: chronic pulmonary regurgitation slowly dilates and impairs the right ventricle and generates atrial and ventricular arrhythmia, and this progresses silently — the well-feeling patient is exactly the one in whom timely intervention is missed. [1] [2]

(3) Loss to follow-up (3). Risk factors include a transfer that is never completed, feeling well, geographic distance and cost, poor understanding of the diagnosis, mental-health and neurodevelopmental difficulty, socioeconomic disadvantage, and no named adult clinic. Gaps peak in adolescence and young adulthood. Practical measures: a structured transition programme, a portable written health summary, a booked and confirmed first adult appointment, joint or overlapping clinics, telehealth-linked shared care for rural and remote patients, and active recall of anyone who lapses. [4] [6]

SAQ 2 (10 marks)

A 19-year-old woman with a Fontan circulation for a single ventricle attends after a two-year gap in care. She has a new boyfriend, asks about contraception, and says she "might want children one day." She also asks whether she needs antibiotics before a dental filling next week. She has no prosthetic material and has never had endocarditis. [7] [11]

1. Advise on contraception for this woman, naming methods to avoid and methods to prefer, with reasons. (3) [7] [1]
2. Outline how you would counsel her about a future pregnancy, including the risk-stratification tool and where her lesion sits. (4) [7] [8]
3. State whether she needs infective endocarditis prophylaxis for the dental filling and explain the current indications. (3) [11] [12]

Model answer — SAQ 2

(1) Contraception (3). Avoid combined oestrogen-containing methods, because the Fontan circulation carries a high thrombotic risk and oestrogen adds to it. Prefer progestogen-only methods and long-acting reversible contraception — the progestogen implant and intrauterine devices — which are safe and highly effective. The intrauterine device is very effective; although a vasovagal reaction at insertion is a theoretical concern, insertion can be planned safely. An effective method matters most in a lesion where pregnancy is high-risk. [7] [1]

(2) Pregnancy counselling (4). I would counsel her before conception, not at a first antenatal visit. Pregnancy risk is stratified with the modified WHO classification; a Fontan circulation is modified WHO class III, meaning high risk that requires expert shared maternal-cardiac care and intensive monitoring, with real risks of arrhythmia, heart failure, thromboembolism, and adverse fetal outcomes. I would give individualised figures drawn from registry data such as ROPAC and the CARPREG II risk score rather than vague reassurance, discuss the heritable recurrence risk and the option of fetal cardiac screening, and ensure effective contraception until a planned, optimised pregnancy is agreed. [8] [7]

(3) Endocarditis prophylaxis (3). She does not need prophylaxis. Current guidance reserves antibiotic prophylaxis for the highest-risk lesions only: a prosthetic valve or prosthetic repair material, previous infective endocarditis, unrepaired cyanotic congenital heart disease, and the first six months after a prosthetic repair. She has none of these. For patients who do qualify, prophylaxis is given before dental procedures involving the gingiva or periapical region, using amoxicillin 2 g orally (child 50 mg/kg, maximum 2 g) 30 to 60 minutes beforehand, with an alternative for penicillin allergy. Good oral hygiene matters more than antibiotics for her lifetime risk. [11] [12]