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. Cardiogenetics2021, 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.
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. Cardiogenetics2021, 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.
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
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