Exertional syncope, an abnormal ECG and a championship in 9 days
A 22-year-old male university rower is brought to the medical tent after a brief blackout at the end of a 2 km ergometer test. There was no prodrome, no seizure activity and no injury; he was confused for about 20 seconds and has recovered fully. Examination is normal, blood pressure 118/70, heart rate 58. He mentions that his younger brother was told he had 'a thick heart' and that an uncle died suddenly at 41. His 12-lead ECG shows T-wave inversion in V4–V6 and in leads III and aVF, with small Q waves in I and aVL. Echocardiography reports maximum LV wall thickness of 13 mm with normal cavity size and no systolic anterior motion. He is selected for a championship in 9 days.
1. What is your immediate decision about the championship, and how do you explain it to him?
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He does not compete in 9 days. Exertional syncope without prodrome in a young athlete, plus lateral T-wave inversion (V4–V6 is not an athlete's change), plus Q waves, plus a first-degree relative with a 'thick heart' and a relative dying suddenly at 41, is a classic constellation pointing to an inherited cardiomyopathy until proved otherwise. Maximum LV wall thickness of 13 mm sits in the grey zone and does not exclude hypertrophic cardiomyopathy.
Why this is not overcautious. Syncope during exertion is a recognised warning symptom in HCM and in ion channel disease. The absolute risk is small, but the event is potentially fatal and exercise restriction is the one intervention that is reliably effective while the diagnosis is open.
How to explain it.
- Separate the two questions: 'is this serious?' and 'will I ever row again?' The answer to the second is usually yes, but not before the evaluation is complete.
- Be clear that this is a temporary restriction pending tests, not a life sentence.
- Do not soften the recommendation to the point of ambiguity - athletes in this position often take a hedged 'probably best not to' as permission.
- Put the advice in writing, share it with the athlete and, with his consent, his coach and parents.
- Ensure he is not left unsupported: an appointment with a sports cardiologist within days, and a clear route back to sport if the workup is normal.
2. What investigations would you arrange, and how would you resolve the 13 mm wall thickness?
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Investigations.
- Cardiac MRI with late gadolinium enhancement - the pivotal test. It assesses the whole myocardium (apical and lateral segments the echo may miss), quantifies wall thickness, and identifies LGE, which would strongly favour cardiomyopathy over athlete's heart.
- 12-lead ECG repeated; 24–48 h Holter for ventricular arrhythmia and non-sustained VT.
- Exercise stress test for symptoms, arrhythmia and blood pressure response (a blunted or paradoxical response is abnormal).
- Bloods: renal function, electrolytes, iron studies, thyroid; consider genetic testing after cardiology review.
Resolving 13 mm.
- Features favouring athlete's heart: symmetrical hypertrophy, cavity >45 mm, normal diastolic function (tissue Doppler e′), no LGE, no family history, ECG changes confined to voltage and early repolarisation, and regression after deconditioning (practical only after the season).
- Features favouring HCM: asymmetric septal pattern, small cavity, impaired relaxation, LGE, lateral T-wave inversion, Q waves, family history - several of which he already has.
- If uncertainty persists, the safe position is restriction plus specialist follow-up; do not use 'he is fit and asymptomatic' as evidence of health.
3. What do you advise for his brother and uncle, and what do you tell the coach?
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Family screening. The brother's 'thick heart' must be reviewed at a specialist cardiomyopathy clinic with ECG, echocardiography and, if there is any doubt, cardiac MRI - not accepted as a benign label. The uncle's sudden death at 41 could be the sentinel event; obtain the post-mortem and hospital records if the family will consent. First-degree relatives should receive cascade screening; if a pathogenic variant is found in the athlete, predictive testing can be offered to relatives with counselling. This is a family matter and should be handled by the cardiology/genetics team, not by informal advice at the boathouse.
What the coach is told.
- Only the fitness-to-play conclusion, with the athlete's consent: 'not currently cleared; under cardiology review; timeframe unknown'.
- Not the ECG findings, not the family history, not the possible diagnosis.
- Warn the coach against pressuring the athlete, and give a named contact for updates.
- Document the conversation. Confidentiality is not breached by stating that someone cannot train; it is breached by telling the coach why.