ACHD general principles — structured written assessment

SAQ 1 (10 marks)

Practice scenario. A 27-year-old woman with Eisenmenger syndrome attends the ACHD clinic. Her baseline resting oxygen saturation is below 85%, and she is of childbearing age.^[2]

1. Give her ACHD AP physiological stage under ACC/AHA 2025 and the features that place her there. (2)
2. State the ACC/AHA 2025 rows on iron deficiency and on prophylactic phlebotomy in ACHD with cyanosis, with COR and LOE. (2)
3. She develops headache, dizziness and blurred vision. Give the ACC/AHA 2025 first step for symptoms of hyperviscosity, and the conditions under which phlebotomy may then be considered, with COR and LOE. (2)^[1][2]
4. A month later she has fever, a new headache and a new weakness of her left hand that persists. What does ESC 2020 say about this presentation, and what does ACC/AHA 2025 recommend? (2)^[1][2]
5. She asks about contraception. Give the ACC/AHA 2025 rows on family planning in cyanosis and on estrogen-containing agents, and the ESC 2020 view of combined and progesterone-only methods. (2)

Model answers — SAQ 1

1. Stage D: ACC/AHA 2025 Table 4 lists Eisenmenger syndrome and severe hypoxemia (baseline oxygen saturation ≤85%) as stage D features (1 mark).^[2] Patients are classified according to the “highest” relevant anatomic or physiological feature, so either feature places her in stage D (1 mark).^[2]
2. Patients with ACHD and cyanosis should receive annual screening for and treatment of iron deficiency to improve exercise capacity and functional status (COR 1, LOE B-NR) (1 mark).^[2] In patients with ACHD and cyanosis, prophylactic phlebotomy is not recommended (COR 3: No Benefit, LOE B-NR) (1 mark).^[2]
3. In patients with ACHD and cyanosis who present with symptoms of hyperviscosity, rehydration with oral or intravenous fluids should be performed to improve symptoms and reduce the risk for vascular complications (COR 1, LOE B-NR) (1 mark).^[2] In patients with ACHD, hematocrit >65%, and hyperviscosity symptoms that persist despite adequate rehydration and treatment of iron deficiency, phlebotomy may be considered (COR 2b, LOE C-EO) (1 mark).^[2] Not marked: ESC 2020 notes that hyperviscosity symptoms are unlikely in an iron-replete patient with haematocrit <65%.^[1]
4. ESC 2020: fever, associated with a new or different headache, raises suspicion of a brain abscess (1 mark).^[1] ACC/AHA 2025: in patients with ACHD and cyanosis who present with persistent, new, or worsening neurologic deficits, urgent brain imaging to exclude cerebral abscess or stroke should be performed (COR 1, LOE B-NR) (1 mark).^[2]
5. Patients with ACHD and cyanosis who are of childbearing age should receive comprehensive family planning consultation, including recommendations on safe and reliable contraceptive methods, from a multidisciplinary team of experts in family planning and ACHD (COR 1, LOE C-EO) (half a mark).^[2] In patients with ACHD who are at high risk for thromboembolic events, contraceptive agents that contain estrogen are potentially harmful (COR 3: Harm, LOE B-NR) (half a mark).^[2] ESC 2020: the combined oral contraceptive is highly effective (99.9%) but is best avoided in patients with a pre-existing thrombotic risk (cyanosis, Fontan physiology, mechanical valves, prior thrombotic events, PAH), especially as there are few data to suggest that concomitant oral anticoagulation therapy will negate this risk, whereas progesterone-only contraceptives do not pose such a high thrombosis risk, and newer preparations available for oral administration or with intrauterine implants have a high efficacy (>95%) (1 mark).^[1]

SAQ 2 (10 marks)

Practice scenario. A 26-year-old man has a repaired conotruncal defect. He has a history of hypocalcaemia and speech abnormalities, he plays recreational football, and he and his partner are planning a pregnancy.^[2]

1. Give the ACC/AHA 2025 row on screening for 22q11.2 deletion syndrome, with its purpose, COR and LOE. (2)
2. Which features in his history appear for 22q11.2 deletion syndrome in ACC/AHA 2025 Table 9, and how often does this syndrome come with congenital heart disease? (2)^[2]
3. Give the ACC/AHA 2025 row on fetal screening that applies because he has ACHD, and the row on referral for genetic evaluation, with COR and LOE. (2)
4. He asks about exercise. Give the ACC/AHA 2025 row on assessing activity levels and the guideline text on physical activity, including the conditions that warrant more caution. (2)
5. He wants to join a competitive league. Give the ACC/AHA 2025 rows on competitive sports and on CPET to guide physical activity, with COR and LOE. (2)

Model answers — SAQ 2

1. For adults with conotruncal defects, screening for 22q11.2 deletion syndrome is reasonable to assess the risk of transmission to offspring and to screen for associated comorbidities (COR 2a, LOE B-NR) (2 marks: 1 for the row with its purpose, 1 for the class and level).^[2]
2. Table 9 lists facial dysmorphia, palate and speech abnormalities, thymic and parathyroid hypoplasia, hypocalcemia, immunodeficiency, and neurodevelopmental and psychiatric disorders for 22q11.2 deletion syndrome, so his speech abnormalities and hypocalcaemia fit (1 mark).^[2] Approximately 60% to 80% of people with 22q11.2 deletion syndrome have congenital heart disease, and 70% of that subset have a conotruncal defect (1 mark).^[2]
3. Screening fetal echocardiography is indicated to detect congenital heart disease if either parent has ACHD, to optimize delivery planning and access to care (COR 1, LOE C-LD) (1 mark).^[2] In adults with congenital heart disease and a family history of congenital heart disease or clinical features associated with a genetic syndrome, referral for genetic evaluation is reasonable to guide management (COR 2a, LOE C-EO) (1 mark).^[2] Not marked: ESC 2020 recommends foetal echocardiography in affected couples at 19–22 weeks gestation, and it can be done as early as 15–16 weeks gestation.^[1]
4. Patients with ACHD should have their activity levels assessed at regular intervals to receive counseling about the types and intensity of exercise appropriate to their clinical status (COR 1, LOE B-R) (1 mark).^[2] Most patients with ACHD can safely engage in regular, moderate physical activity and should be encouraged to engage in recreational exercise or appropriate physical activity; a few conditions, such as systemic ventricular systolic dysfunction, systemic ventricular outflow tract obstruction, hemodynamically significant arrhythmias, or aortic dilation, warrant more cautious recommendations (1 mark).^[2]
5. In patients with ACHD, participation in competitive sports is reasonable following a comprehensive evaluation by an ACHD specialist that incorporates functional status and individualized assessment of risks and benefits (COR 2a, LOE C-EO) (1 mark).^[2] In patients with ACHD, CPET can be useful to guide physical activity recommendations (COR 2a, LOE C-LD) (1 mark).^[2]