Cardiomyopathie door mutatie in het phospholamban-gen: Een genetische afwijking met veel impact

Peter van der Meer; Eva van Rooij; Pieter A. Doevendans

Cardiomyopathie door mutatie in het phospholamban-gen: Een genetische afwijking met veel impact

Translated title of the contribution: Cardiomyopathy due to a mutation in the phospholamban gene: a high-impact genetic abnormality

Peter van der Meer, Eva van Rooij, Pieter A. Doevendans

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

A mutation in the Phospholamban gene where the Arginine at position 14 (PLN-R14Del) is missing is causing a severe cardiomyopathy often leading to cardiac transplantation in the Netherlands. We estimated that approximately 25% of all transplanted patients carry this mutation. The origin is dated somewhere around the year 1300 in the north of country. Currently we have identified 1600 carriers with the identical mutation. We are in the process of developing and applying gene therapy to come to a specific treatment for the 700 carriers with symptoms we see today.

Translated title of the contribution	Cardiomyopathy due to a mutation in the phospholamban gene: a high-impact genetic abnormality
Original language	Dutch
Article number	D7274
Journal	Nederlands Tijdschrift voor Geneeskunde
Volume	167
Publication status	Published - 19 Apr 2023

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Cite this

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abstract = "A mutation in the Phospholamban gene where the Arginine at position 14 (PLN-R14Del) is missing is causing a severe cardiomyopathy often leading to cardiac transplantation in the Netherlands. We estimated that approximately 25% of all transplanted patients carry this mutation. The origin is dated somewhere around the year 1300 in the north of country. Currently we have identified 1600 carriers with the identical mutation. We are in the process of developing and applying gene therapy to come to a specific treatment for the 700 carriers with symptoms we see today.",

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AB - A mutation in the Phospholamban gene where the Arginine at position 14 (PLN-R14Del) is missing is causing a severe cardiomyopathy often leading to cardiac transplantation in the Netherlands. We estimated that approximately 25% of all transplanted patients carry this mutation. The origin is dated somewhere around the year 1300 in the north of country. Currently we have identified 1600 carriers with the identical mutation. We are in the process of developing and applying gene therapy to come to a specific treatment for the 700 carriers with symptoms we see today.

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Cardiomyopathie door mutatie in het phospholamban-gen: Een genetische afwijking met veel impact

Abstract

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