55-year-old male with known apical HCM and new symptoms

11 September 2025

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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.

References

Question 1:

1. Sharma S, Drezner JA, Baggish A, et al. International recommendations for electrocardiographic interpretation in athletes. Eur Heart J 2018; 39: 1466–1480.
2. Malhotra A, Dhutia H, Gati S, et al. Anterior T-Wave Inversion in Young White Athletes and Nonathletes: Prevalence and Significance. J Am Coll Cardiol. 2017;69(1):1-9.

Question 2:

1. Caudron J, Fares J, Vivier PH, et al. Diagnostic accuracy and variability of three semi-quantitative methods for assessing right ventricular systolic function from cardiac MRI in patients with acquired heart disease. Eur Radiol 2011; 21: 2111.
2. Galea N, Carbone I, Cannata D, et al. Right ventricular cardiovascular magnetic resonance imaging: normal anatomy and spectrum of pathological findings. Insights Imaging 2013; 4: 213.
3. Licordari R, Trimarchi G, Teresi L, et al. Cardiac Magnetic Resonance in HCM Phenocopies: From Diagnosis to Risk Stratification and Therapeutic Management. J Clin Med 2023; 12: 12.
4. Dubrcy SW, Falk RH. Amyloid heart disease. Br J Hosp Med 2010; 71: 76–82.
5. Nemshah Y, Clavijo A, Sharma G. Amyloid heart disease. US Cardiol Rev 2018; 12: 113–118.
6. Hoigné P, Attenhofer Jost CH, Duru F, et al. Simple criteria for differentiation of Fabry disease from amyloid heart disease and other causes of left ventricular hypertrophy. Int J Cardiol 2006; 111: 413–422.
7. Lavall D, Vosshage NH, Geßner R, et al. Native T1 mapping for the diagnosis of cardiac amyloidosis in patients with left ventricular hypertrophy. Clin Res Cardiol 2023; 112: 334–342.

Question 3:

1. National Institute for Health and Care Excellence (NICE). Myeloma: diagnosis and management (NICE guideline NG35). Published 10 Feb 2016. Last updated 25 Oct 2018. Available at: https://www.nice.org.uk/guidance/ng35/.
2. Rajkumar SV. Updated Diagnostic Criteria and Staging System for Multiple Myeloma. Am Soc Clin Oncol Educ B 2016; e418–e423.
3. Kim MA, Kim CH, Oh BH, et al. Cardiac Amyloidosis Diagnosed by Endomyocardial Biopsy. Korean J Intern Med 1988; 3: 148.
4. Granstam SO, Rosengren S, Vedin O, et al. Evaluation of patients with cardiac amyloidosis using echocardiography, ECG and right heart catheterization. Amyloid 2013; 20: 27–33.
5. Paeng JC, Choi JY. Nuclear Imaging for Cardiac Amyloidosis: Bone Scan, SPECT/CT, and Amyloid-Targeting PET. Nucl Med Mol Imaging (2010) 2021; 55: 61.
6. Phull P, Sanchorawala V, Connors LH, et al. Monoclonal gammopathy of undetermined significance in systemic transthyretin amyloidosis (ATTR). Amyloid 2018; 25: 62.

Notes to editor

Authors information:

Dr Emmanouil Androulakis,
Dr Szymon Musiol, Royal United Hospitals Bath NHS Foundation Trust
Dr Michael Papadakis, St George’s University Hospitals NHS Foundation Trust
Dr Maria Teresa Tome Esteban, St George’s University Hospitals NHS Foundation Trust