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 tachyar-rhythmias 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.

Novel dilated cardiomyopathy associated to Calreticulin and Myo7A gene mutation in Usher syndrome / Frustaci, Andrea; De Luca, Alessandro; Galea, Nicola; Verardo, Romina; Guida, Valentina; Carrozzo, Rosalba; Chimenti, Cristina; Frustaci, Emanuela; Sansone, Luigi; Russo, Matteo Antonio. - In: ESC HEART FAILURE. - ISSN 2055-5822. - 8:3(2021), pp. 2310-2315. [10.1002/ehf2.13260]

Novel dilated cardiomyopathy associated to Calreticulin and Myo7A gene mutation in Usher syndrome

Frustaci, Andrea
;
De Luca, Alessandro;Galea, Nicola;Verardo, Romina;Guida, Valentina;Chimenti, Cristina;Frustaci, Emanuela;Sansone, Luigi;Russo, Matteo Antonio
2021

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 tachyar-rhythmias 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.
2021
CALR; calreticulin; cardiomyocyte disconnection; MYO7A; Usher syndrome
01 Pubblicazione su rivista::01a Articolo in rivista
Novel dilated cardiomyopathy associated to Calreticulin and Myo7A gene mutation in Usher syndrome / Frustaci, Andrea; De Luca, Alessandro; Galea, Nicola; Verardo, Romina; Guida, Valentina; Carrozzo, Rosalba; Chimenti, Cristina; Frustaci, Emanuela; Sansone, Luigi; Russo, Matteo Antonio. - In: ESC HEART FAILURE. - ISSN 2055-5822. - 8:3(2021), pp. 2310-2315. [10.1002/ehf2.13260]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1682032
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