Preprint Case Report Version 1 Preserved in Portico This version is not peer-reviewed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

How to cite: Glaveckaitė, S.; Mikštienė, V.; Palionis, D.; Valevičienė, N.R. Overlapping Phenotype of Cardiomyopathy in Patient With Double Mutation. Preprints 2020, 2020120704 (doi: 10.20944/preprints202012.0704.v1). Glaveckaitė, S.; Mikštienė, V.; Palionis, D.; Valevičienė, N.R. Overlapping Phenotype of Cardiomyopathy in Patient With Double Mutation. Preprints 2020, 2020120704 (doi: 10.20944/preprints202012.0704.v1).

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.

Subject Areas

left ventricular noncompaction; apical hypertrophic cardiomyopathy; next generation sequencing

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