Novel dilated cardiomyopathy associated to Calreticulin and Myo7A gene mutation in Usher syndrome.
ESC Heart Fail
; 8(3): 2310-2315, 2021 06.
Article
em En
| MEDLINE
| ID: mdl-33835720
ABSTRACT
We report a novel cardiomyopathy associated to Usher syndrome and related to combined mutation of MYO7A and Calreticulin genes. A 37-year-old man with deafness and vision impairment because of retinitis pigmentosa since childhood and a MYO7A gene mutation suggesting Usher syndrome, developed a dilated cardiomyopathy with ventricular tachyarrhythmias and recurrent syncope. At magnetic resonance cardiomyopathy was characterized by left ventricular dilatation with hypo-contractility and mitral prolapse with valve regurgitation. At left ventricular endomyocardial biopsy, it was documented cardiomyocyte disconnection because of cytoskeletal disorganization of cell-to-cell contacts, including intercalated discs, and mitochondrial damage and dysfunction with significant reduction of adenosine triphosphate production in patient cultured fibroblasts. At an extensive analysis by next-generation-sequencing of 4183 genes potentially related to the cardiomyopathy a pathogenic mutation of calreticulin was found. The cardiomyopathy appeared to be functionally and electrically stabilized by a combination therapy including carvedilol and amiodarone at a follow-up of 18 months.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cardiomiopatia Dilatada
/
Síndromes de Usher
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Limite:
Adult
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Child
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Humans
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Male
Idioma:
En
Revista:
ESC Heart Fail
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Itália