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
Subject
Medicine and Pharmacology, Immunology and Allergy
Copyright:
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