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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
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Cardiac amyloidosis: The great masquerader

Jubran Rind1, Nagib Chalfoun1, Richard McNamara2

  • 1Michigan State University School of Human Medicine.

Global Cardiology Science & Practice
|August 8, 2018
PubMed

Insights

Cardiac amyloidosis can mimic hypertrophic cardiomyopathy, leading to misdiagnosis. Cardiac MRI and ECG are crucial for accurate diagnosis, differentiating amyloidosis from other cardiomyopathies and guiding treatment.

Area of Science:

  • Cardiology
  • Cardiovascular Imaging

Background:

  • Cardiac amyloidosis often presents with left ventricular hypertrophy (LVH), mimicking other cardiac conditions.
  • Echocardiographic findings in cardiac amyloidosis can resemble hypertrophic cardiomyopathy (HCM), including asymmetric septal hypertrophy and outflow tract obstruction.

Observation:

  • A 76-year-old male patient presented with cardiomyopathy exhibiting echocardiographic features suggestive of asymmetric HCM.
  • The patient's presentation highlighted the diagnostic challenge posed by overlapping clinical and imaging findings.

Findings:

  • Cardiac magnetic resonance imaging (MRI) and electrocardiography (ECG) were instrumental in correctly diagnosing cardiac amyloidosis.
  • These advanced imaging and diagnostic tools differentiated amyloidosis from HCM in this complex case.

Implications:

  • Accurate differentiation of cardiac amyloidosis from HCM is critical for appropriate patient management.
  • Timely diagnosis through advanced imaging influences treatment strategies and patient outcomes in cardiovascular disease.

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