A new phenotype of severe dilated cardiomyopathy associated with a mutation in the LAMP2 gene previously known to cause hypertrophic cardiomyopathy in the context of Danon disease

European Journal of Medical Genetics
Polyxeni GourziDimitrios Degiannis

Abstract

Danon disease is a rare X-linked cardiac and skeletal muscle disorder with multisystem clinical manifestations. Genetic defects at the lysosome-associated membrane 2 protein (LAMP2) are the cause of the disorder. Due to the rarity of the disease, there is limited progress in understanding the correlation between genotype and phenotype, and explaining the large variability of the clinical features of the disease. In this study, we report two patients, twin sisters, referred to our hospital for end stage heart failure due to dilated cardiomyopathy, requiring heart transplant evaluation. Genetic analysis, using targeted next generation sequencing, showed that the proband carried a LAMP2 missense variant, c.928G > A. The mutation was also detected in her twin sister by sanger sequencing. This variant has already been reported by other investigators and was correlated with the clinical triad of Danon disease i.e. hypertrophic cardiomyopathy, mental retardation and peripheral myopathy. The new phenotype of dilated cardiomyopathy associated with this mutation, confirms the phenotypic heterogeneity of the particular mutation, as well as of Danon disease.

Citations

Nov 8, 2019·Neuropathology and Applied Neurobiology·G CenacchiC Angelini
Jun 15, 2019·Sudebno-meditsinskaia ekspertiza·Yu I PigolkinI A Kolomoets
Apr 23, 2020·Life·Josef Finsterer
May 3, 2021·Diagnostic Pathology·Jiamin XuBiao Xu
Aug 8, 2021·International Journal of Molecular Sciences·Jennifer ZhangHung-Fat Tse

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cardiomyopathy

Cardiomyopathy is a disease of the heart muscle, that can lead to muscular or electrical dysfunction of the heart. It is often an irreversible disease that is associated with a poor prognosis. There are different causes and classifications of cardiomyopathies. Here are the latest discoveries pertaining to this disease.