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Case Report

Overlapping Phenotype of Cardiomyopathy in a Patient with Double Mutation: A Case Report

1
Department of Cardiovascular Diseases, Faculty of Medicine, Institute of Clinical Medicine, Vilnius University, 03101 Vilnius, Lithuania
2
Department of Human and Medical Genetics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, 03101 Vilnius, Lithuania
3
Hematology, Oncology and Transfusion Medicine Center, Vilnius University Hospital Santaros Klinikos, 08661 Vilnius, Lithuania
4
Department of Radiology, Nuclear Medicine and Medical Physics, Faculty of Medicine, Institute of Biomedical Sciences, Vilnius University, 03101 Vilnius, Lithuania
*
Author to whom correspondence should be addressed.
Cardiogenetics 2021, 11(1), 31-38; https://doi.org/10.3390/cardiogenetics11010005
Received: 26 December 2020 / Revised: 28 January 2021 / Accepted: 1 March 2021 / Published: 5 March 2021
(This article belongs to the Section Cardiovascular Genetics in Clinical Practice)
Hypertrophic cardiomyopathy and left ventricular noncompaction 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 report demonstrates an example in which phenotypic expression of both diseases occurred in the same patient, who has two different alterations; one of them is a likely pathogenic variant in the MYL3 gene (MIM#160790) and the second variant in the MYH6 gene (MIM#160710) of unknown significance so far. To better understand associations between specific genetic variants and phenotypical expression of these genetic alterations and to stratify patient risk and decide on the most appropriate treatment, a comprehensive multimodality imaging approach and experienced multidisciplinary cardiomyopathy team decisions are warranted. In the clinical routine, awareness of the existence of complex cardiomyopathy phenotypes should be paid more attention during echocardiographic examination and should encourage a broader use of cardiovascular magnetic resonance. View Full-Text
Keywords: left ventricular noncompaction; apical hypertrophic cardiomyopathy; next-generation sequencing; case report left ventricular noncompaction; apical hypertrophic cardiomyopathy; next-generation sequencing; case report
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MDPI and ACS Style

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. https://doi.org/10.3390/cardiogenetics11010005

AMA Style

Glaveckaitė S, Mikštienė V, Preikšaitienė E, Norvilas R, Janavičius R, Valevičienė NR. Overlapping Phenotype of Cardiomyopathy in a Patient with Double Mutation: A Case Report. Cardiogenetics. 2021; 11(1):31-38. https://doi.org/10.3390/cardiogenetics11010005

Chicago/Turabian Style

Glaveckaitė, Sigita; Mikštienė, Violeta; Preikšaitienė, Eglė; Norvilas, Rimvydas; Janavičius, Ramūnas; Valevičienė, Nomeda R. 2021. "Overlapping Phenotype of Cardiomyopathy in a Patient with Double Mutation: A Case Report" Cardiogenetics 11, no. 1: 31-38. https://doi.org/10.3390/cardiogenetics11010005

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