A number of clinical clues can help to identify the underlying cause for restrictive cardiomyopathy (RCM).
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Clinical Clue
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Cause(s)
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pediatric onset
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primary RCM, endocardial fibroelastosis, Danon disease, hemochromatosis
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autosomal dominant inheritance
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ATTRv amyloidosis, primary RCM, desminopathy
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autosomal recessive inheritance
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pseudoxanthoma elasticum, hemochromatosis, desminopathy
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X-linked inheritance
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Anderson-Fabry disease, Danon disease
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maternal inheritance
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mitochondrial disease
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ruptured biceps
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amyloidosis
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carpal tunnel syndrome
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amyloidosis
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spinal stenosis
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amyloidosis
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bronze skin pigmentation
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hemochromatosis
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hypogonadism
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hemochromatosis
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arthropathy
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hemochromatosis
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liver cirrhosis
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hemochromatosis
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diabetes
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hemochromatosis
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multiple angiokeratomas
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Anderson-Fabry disease
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peripheral muscle weakness
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Danon disease, desminopathy
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intellectual deficit
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Danon disease
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elevated serum CK
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desminopathy, myopathy (lamin, myofibrillar)
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proteinuria and reduced GFR
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hemochromatosis
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elevated serum free light chains
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amyloidosis
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eosinophilia
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endomyocardial fibrosis, hypereosinophilic syndrome
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