Case Report: Successful Cerebral Revascularization and Cardiac Transplant in a 16-Year-Old Male With Syndromic BRCC3-Related Moyamoya Angiopathy.
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ABSTRACT:
SUBMITTER: Pyra P
PROVIDER: S-EPMC8044811 | biostudies-literature | 2021
REPOSITORIES: biostudies-literature
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Case Report: Successful Cerebral Revascularization and Cardiac Transplant in a 16-Year-Old Male With Syndromic <i>BRCC3</i>-Related Moyamoya Angiopathy.
Pyra Pierrick P Darcourt Jean J Aubert-Mucca Marion M Brandicourt Pierre P Patat Olivier O Cheuret Emmanuel E Brochard Karine K Sevely Annick A Calviere Lionel L Karsenty Clément C
Frontiers in neurology 20210330
<b>Background:</b> <i>BRCC3/MTCP1</i> deletions are associated with a rare familial moyamoya angiopathy with extracranial manifestations. <b>Case:</b> We report the case of an adolescent male presenting with progressive and symptomatic moyamoya angiopathy and severe dilated cardiomyopathy caused by a hemizygous deletion of <i>BRCC3/MTCP1</i>. He was treated for renovascular hypertension by left kidney homograft and right nephrectomy in infancy and had other syndromic features, including cryptorc ...[more]
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