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Cardiac amyloidosis mimicking hypertrophic cardiomyopathy
Insights
Cardiac amyloidosis can mimic hypertrophic cardiomyopathy, leading to misdiagnosis. Noninvasive findings and systemic signs, like muscle pseudohypertrophy, aid in diagnosing this rare heart condition.
Area of Science:
- Cardiology
- Oncology
Background:
- Cardiac amyloidosis often presents with symptoms mimicking other cardiac disorders.
- Echocardiography can lead to misdiagnosis of hypertrophic cardiomyopathy due to overlapping features.
Observation:
- A patient presented with features suggestive of hypertrophic cardiomyopathy.
- Key indicators for amyloid infiltration included low QRS amplitude, increased right ventricular wall thickness, thickened cardiac valves, and pericardial effusion.
Findings:
- Systemic amyloidosis of immunocytic origin was diagnosed.
- The patient exhibited muscle pseudohypertrophy syndrome, associated with immunocytic amyloidosis.
Implications:
- Noninvasive findings combined with extra-cardiac amyloid detection can suffice for diagnosis, avoiding invasive procedures.
- Recognizing systemic manifestations is crucial for diagnosing generalized amyloidosis and associated cardiac involvement.
Abstract:
Amyloid infiltration of the heart may frequently masquerade as other cardiac disorders. The extended use of echocardiography may contribute to an erroneous diagnosis of hypertrophic cardiomyopathy, as both conditions show several features in common. This was the case with the patient reported below. A low QRS amplitude, an increased right ventricular wall thickness, thickened cardiac valves, and a pericardial effusion may, however, indicate amyloid infiltration. The diagnosis of systemic amyloidosis of immunocytic origin was subsequently established in our patient. A definitive diagnosis of amyloid heart disease requires endomyocardial biopsy, but it is suggested that typical noninvasive findings together with demonstration of amyloid in an organ other than the heart is sufficient for a reliable diagnosis. In addition, systemic manifestations may contribute to a correct diagnosis in generalized amyloidosis. Our patient had features consistent with the rare muscle pseudohypertrophy syndrome, which is associated with immunocytic amyloidosis.