Abstract
We report a severe, biventricular obstructive cardiomyopathy in a young female with Costello syndrome, who underwent a right ventricular myectomy for symptoms relief. We discuss potential clinical implications and management of severe hypertrophy in Costello syndrome.
MeSH terms
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Abnormalities, Multiple / genetics
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Abnormalities, Multiple / pathology*
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Adolescent
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Adrenergic beta-Antagonists / therapeutic use*
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Cardiomegaly / drug therapy*
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Cardiomegaly / genetics
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Cardiomegaly / pathology*
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Female
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Humans
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Intellectual Disability / genetics
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Intellectual Disability / pathology
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Phenotype
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Proto-Oncogene Proteins p21(ras) / genetics
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Severity of Illness Index
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Syndrome*
Substances
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Adrenergic beta-Antagonists
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HRAS protein, human
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Proto-Oncogene Proteins p21(ras)