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PedAM

Pediatric Disease Annotations & Medicines




Disease amyloidosis
Phenotype C0007194|hypertrophic cardiomyopathy
Sentences 2
PubMedID- 23425518 Apart from evident neurologic manifestations, some clinical signs can raise the suspicion of hereditary ttr amyloidosis in a patient with apparently isolated hypertrophic cardiomyopathy.
PubMedID- PMC4642053 We conducted a prospective study to evaluate the interest of ttr gene sequencing in hypertrophic cardiomyopathy with suspicion of amyloidosis before obtaining a histological proof of amyloidosis.

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