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. Preprints2020, 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).
Cite as:
Glaveckaitė, S.; Mikštienė, V.; Palionis, D.; Valevičienė, N.R. Overlapping Phenotype of Cardiomyopathy in Patient With Double Mutation. Preprints2020, 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
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Sigita Glaveckaitė