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A case report of a novel mutation in lamin A/C gene related with risk of sudden death.

Carlos Andres Sanchez VallejoCarlos Daniel Rodriguez ArizaJose Alfredo Restrepo UrbinaSantiago Callegari
Published in: European heart journal. Case reports (2022)
Lamins are nuclear proteins involved in various cellular processes in myocardial cells. Therefore, mutations are associated with wide phenotypic alterations. The mutation described here was not previously reported in the literature. In the face of an undescribed mutation, the decision to use an ICD for primary prevention of sudden death is challenging. Because of the episodes of NSVT and a higher likelihood of risk of sudden death due to male sex and first-degree atrioventricular block, the decision to use an ICD was made for this patient, with no complications.
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