This case report describes the first known instance of a left ventricular diverticulum in a patient with galactosialidosis.
May represent novel LV feature in galactosialidosis; extends phenotype description but leaves open prevalence and clinical relevance.
We present the case of a 35-year-old man affected by the late juvenile form of galactosialidosis. He was known for a moderate pericardial effusion which remained unchanged in the last 12 months. Last follow-up transthoracic echocardiographic examination showed a bulging of the posterior and lateral wall of the left ventricle. This finding has never been described before in galactosialidosis.
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Durante et al. (2011) studied this question.
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