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J Korean Med Sci. 2024 Apr 01;39(12):e117. English.
Published online Mar 15, 2024.
© 2024 The Korean Academy of Medical Sciences.
Case Report

Challenge of Case 20: A 69-Year-Old Man With Exertional Dyspnea

    This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (https://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

    A 69-year-old male patient visited the cardiology outpatient clinic approximately 6 months ago with complaints of exertional dyspnea corresponding to NYHA class II.

    The patient had previously been diagnosed with hypertension and was taking antihypertensive medication. He reported experiencing shortness of breath during physical activity. He had no history of smoking or alcohol consumption.

    During an outpatient visit, physical examination revealed a body temperature of 36.3℃, a heart rate of 50 beats per minute, blood pressure of 120/80 mmHg, and a respiratory rate of 20 breaths per minute. The patient’s oxygen saturation while breathing room air was 98%.

    Complete blood count and blood chemistry tests returned no notable findings. Cardiac markers revealed normal CK-MB (4.85 mg per ml) and proBNP (334 pg per ml); however, troponin T was elevated (33.4 pg per ml).

    The patient had visited the outpatient clinic one year before due to a sternal fracture resulting from a traffic accident. Internal fixation was performed by the hospital’s thoracic surgery department. A chest CT conducted at that time revealed coronary calcification. Additionally, the patient had been complaining of lower back pain and numbness in both lower extremities for the past year.

    A chest X-ray performed in the outpatient setting showed no active lung lesions, but cardiomegaly was suspected. Electrocardiogram revealed a regular sinus rhythm, but a right bundle branch block was observed.

    Transthoracic echocardiography showed a left ventricular ejection fraction of 60%, severe concentric left ventricular hypertrophy (interventricular septal thickness 16 mm, left ventricular posterior wall thickness 21 mm, Fig. 1A and B), and grade II diastolic dysfunction (E/A 1.54, average E/e’ 18). Longitudinal strain exhibited apical sparing, resulting in a bullseye pattern (Fig. 1C).

    To assess monoclonal proteins, serum kappa/lambda free light chain ratio, serum protein immunofixation, and urine protein immunofixation tests were conducted, and all results were within normal range.

    Subsequently, Tc-99m-PYP scintigraphy (HDP bone scan) was performed, and this test revealed significantly increased uptake in the heart with almost no uptake in the ribs, indicating a Perugini grade 3 result (Fig. 2).

    Question 1

    What is the most likely diagnosis in this case?

    • A. Fabry’s disease

    • B. Cardiac sarcoidosis

    • C. AL cardiomyopathy

    • D. ATTR cardiomyopathy

    • E. Apical hypertrophic cardiomyopathy

    Question 2

    What is the most appropriate medical treatment for this patient?

    • A. tafamidis

    • B. vericiguat

    • C. mexiletine

    • D. mavacamten

    • E. agalsidase beta


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