Preprint Case Report Version 1 Preserved in Portico This version is not peer-reviewed

Overlapping Phenotype of Cardiomyopathy in Patient With Double Mutation

Version 1 : Received: 26 December 2020 / Approved: 28 December 2020 / Online: 28 December 2020 (13:19:41 CET)

A peer-reviewed article of this Preprint also exists.

Glaveckaitė, S.; Mikštienė, V.; Preikšaitienė, E.; Norvilas, R.; Janavičius, R.; Valevičienė, N.R. Overlapping Phenotype of Cardiomyopathy in a Patient with Double Mutation: A Case Report. Cardiogenetics 2021, 11, 31-38. Glaveckaitė, S.; Mikštienė, V.; Preikšaitienė, E.; Norvilas, R.; Janavičius, R.; Valevičienė, N.R. Overlapping Phenotype of Cardiomyopathy in a Patient with Double Mutation: A Case Report. Cardiogenetics 2021, 11, 31-38.

Journal reference: Cardiogenetics 2021, 11, 5
DOI: 10.3390/cardiogenetics11010005

Abstract

Left ventricular noncompaction (LVNC) and hypertrophic cardiomyopathy (HCM) commonly occur as separate disorders with distinct clinical and pathoanatomical features. However, these cardiomyopathies may have a similar genetic origin with mutations encoding sarcomeric proteins. The described case demonstrates an example, in which phenotypic expression of both diseases occurs in the same patient.

Keywords

left ventricular noncompaction; apical hypertrophic cardiomyopathy; next generation sequencing

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