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Cleveland Clinic Journal of MedicineA 50-year-old Man Presents with Shortness of Breath

Diagnostic Approaches and Management of Cardiac Amyloidosis: Insights into Multisystem Involvement

In a comprehensive evaluation of cardiac amyloidosis, a case involving a 50-year-old patient with shortness of breath highlights the complexity of diagnosing and managing this potentially systemic condition. Through detailed clinical examination and specialized diagnostic tools, this article explains the pathophysiological mechanisms and treatment avenues for cardiac amyloidosis, emphasizing the importance of timely and accurate diagnosis to optimize patient outcomes.

Key Points:

  • A 50-year-old male with a history of bilateral carpal tunnel syndrome presented with progressive shortness of breath, leading to an investigation that suggested cardiac amyloidosis as a potential diagnosis.
  • Initial symptoms and diagnostic tests highlighted jugular venous distention, an abnormal heart sound (S4), and echocardiography findings indicative of left-ventricular hypertrophy and dysfunction.
  • The echocardiogram revealed a “cherry-on-top” strain pattern typical for cardiac amyloidosis, characterized by longitudinal impairment with apical sparing.
  • Diagnostic evaluation for cardiac amyloidosis includes echocardiography as the primary tool, complemented by Technetium-99m pyrophosphate scintigraphy to confirm the diagnosis of transthyretin amyloid cardiomyopathy (ATTR-CM).
  • ATTR-CM is differentiated by imaging techniques and specialized testing, including serum and urine immunofixation electrophoresis and light chain analysis, to exclude light chain (AL) amyloidosis.
  • Management of cardiac amyloidosis involves the use of disease-modifying therapies like tafamidis, which stabilizes the transthyretin protein and slows disease progression.
  • Despite therapeutic advancements, some patients may experience progression, necessitating considerations for heart transplantation as a viable treatment option.
  • Clinical awareness of cardiac amyloidosis needs enhancement due to its varied presentation and potential for misdiagnosis, as highlighted by the patient’s extended diagnostic journey before appropriate treatment initiation.

Unlike transthyretin cardiac amyloidosis (ATTR-CA), it seems that the incidence of AL cardiac amyloidosis (AL-CA) has not changed significantly in the past years. Kyle et al. reported an incidence rate of AL amyloidosis from 1990 through 2015 of 1.2 per 100,000 person years in the Olmsted County, with rates similar across the decades of 1990–1999, 2000–2009, and 2010–2015 at 1.1, 0.9, and 1.6 per 100,000 person years, respectively, with no suggestion of an increase. (Mayo Clinic Proceedings)

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