The case
55-year-old veteran marathon runner was under the surveillance of the Inherited Cardiac Conditions clinic due to a diagnosis of likely apical hypertrophic cardiomyopathy diagnosed initially due to an incidental abnormal ECG, and a subsequent mild echocardiographic phenotype (11.5 mm septal diastolic diameter, and mild hypertrophy in apical anterior and inferior segments).
After years of uneventful follow-up, he presented worsening athletic performance and exertional breathlessness over 1 year. As the symptoms were out of keeping with his relatively mild phenotype, extended investigations were carried out:
- His interval cardiac MRI scan showed extensive subendocardial myocardial enhancement more evident in the mid-to-apical segments (Figure 1, panel B4) and diffuse myocardial enhancement of mid-to-apical septum and anterior walls, elevated T1 mapping values and extracellular volume as well as a circumferential pericardial effusion with a maximum diameter of 13 mm.
- He was found to have a monoclonal IgA paraproteinaemia with a kappa-to-lambda ratio of 0.08.
- A definitive diagnosis of multiple myeloma and AL cardiac amyloid was made with interdisciplinary collaboration with the haematology team.
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Case report
Read the corresponding case report:
Cardiac AL amyloidosis in a veteran endurance athlete with pre-existing apical hypertrophic cardiomyopathy: A Case Report
Emmanuel Androulakis, Szymon Musiol, Michael Papadakis, Maria Teresa Tome Esteban; European Heart Journal - Case Reports, ytaf443, https://doi.org/10.1093/ehjcr/ytaf443
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