Breathlessness climbing stairs, worsening over six months, with ankle swelling

2026-09-15

The case

80-year-old man. Breathlessness climbing stairs, worsening over six months, with ankle swelling

Treated hypertension on amlodipine and a small dose of ramipril, both of which have had to be reduced twice this year for dizziness. Bilateral carpal tunnel decompressions at 74 and 76. No angina, no previous myocardial infarction and no chest pain at any point. Never smoked.

On arrival

HR: 78
SpO₂ (%): 96
Respiratory rate: 18
Temperature (°C): 36.6
Systolic BP (mmHg): 104
Diastolic BP (mmHg): 64

Stage 1 of 2

He has a raised jugular venous pressure and pitting oedema to mid-calf. Chest is clear. An echocardiogram done that morning reports a maximal left ventricular wall thickness of 16 mm with a non-dilated cavity, an ejection fraction of 48 per cent and biatrial dilatation. This is his twelve-lead.

The tracing for the quiz “Breathlessness climbing stairs, worsening over six months, with ankle swelling”. — Twelve-lead on arrival, 25 mm/s, 10 mm/mV. Open this tracing in the studio

Notes

Echocardiogram: maximal LV wall thickness 16 mm, non-dilated cavity, EF 48%, biatrial dilatation.

What does this tracing show?

AA technically inadequate recording Your answer
BLow QRS voltage despite thickened walls Correct answer Your answer
CAn old anterior myocardial infarction Your answer
DVoltage criteria for left ventricular hypertrophy Your answer

The QRS complexes are small in every lead, with a QRS amplitude of about 0.42 relative to normal, well below the voltage criteria for left ventricular hypertrophy despite echocardiographic wall thickness of 16 mm. This mismatch between low electrical voltage and increased mechanical wall thickness is the hallmark of an infiltrative process replacing contractile myocardium with electrically inert material. An anterior infarction may cause Q waves but does not reduce voltage globally, and the calibration marker confirms the recording is technically adequate.

Stage 2 of 2

Longitudinal strain is reported on the same study: reduced in the basal and mid segments with a normal apex. NT-proBNP is 3,180 ng/L and troponin T is 48 ng/L, having been 44 ng/L six weeks ago on a routine sample. Creatinine 118, haemoglobin 131, calcium normal. He mentions that his right biceps tendon ruptured last year lifting a suitcase.

Bloods

Haemoglobin (g/L): 131
NT-pro BNP (ng/L): 3180
Troponin T (ng/L): 48
Creatinine (umol/L): 118

Notes

Longitudinal strain: basal and mid reduction with apical sparing. Troponin persistently mildly raised, not rising.

What do you arrange to establish the diagnosis?

ACoronary angiography for the anterior Q waves Your answer
BBone scintigraphy, and treat as ATTR if it is positive Your answer
CEndomyocardial biopsy, as the definitive test Your answer
DBone scintigraphy with a serum and urine monoclonal protein screen Correct answer Your answer

Bone scintigraphy with technetium-labelled bisphosphonate is the non-invasive diagnostic test for transthyretin cardiac amyloidosis, but a positive scan can also occur in light-chain amyloidosis. A concurrent serum and urine monoclonal protein screen is therefore essential to exclude AL disease before attributing uptake to ATTR, because the two types require entirely different treatment. Endomyocardial biopsy is invasive and not first-line when non-invasive diagnosis is possible. Coronary angiography is not indicated with no angina and a persistently mildly raised troponin that is not rising.

Diagnosis

Wild-type transthyretin cardiac amyloidosis (ATTRwt)

The combination of marked left ventricular hypertrophy and low voltage should raise suspicion of amyloidosis.

References

Gillmore JD, Maurer MS, Falk RH, et al. Nonbiopsy diagnosis of cardiac transthyretin amyloidosis. Circulation. 2016;133(24):2404-2412.
Garcia-Pavia P, Rapezzi C, Adler Y, et al. Diagnosis and treatment of cardiac amyloidosis: a position statement of the ESC Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2021;42(16):1554-1568.

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Discussion

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