Cargando…

Cardiomyopathy, Proximal Myopathy, Camptocormia, and Novel Filamin C (FLNC) Variant: A Case Report

Patient: Male, 56-year-old Final Diagnosis: Camptocormia • cardiomyopathy • proximal myopathy Symptoms: Truncal weakness • weakness Medication: — Clinical Procedure: — Specialty: Neurology OBJECTIVE: Rare coexistence of disease or pathology BACKGROUND: Filamin C (FLNC) is an actin crosslinking prote...

Descripción completa

Detalles Bibliográficos
Autores principales: Hooshmand, Sara Jasmin, Govindarajan, Raghav, Bostick, Brian P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8455110/
https://www.ncbi.nlm.nih.gov/pubmed/34526477
http://dx.doi.org/10.12659/AJCR.932648
_version_ 1784570605361692672
author Hooshmand, Sara Jasmin
Govindarajan, Raghav
Bostick, Brian P.
author_facet Hooshmand, Sara Jasmin
Govindarajan, Raghav
Bostick, Brian P.
author_sort Hooshmand, Sara Jasmin
collection PubMed
description Patient: Male, 56-year-old Final Diagnosis: Camptocormia • cardiomyopathy • proximal myopathy Symptoms: Truncal weakness • weakness Medication: — Clinical Procedure: — Specialty: Neurology OBJECTIVE: Rare coexistence of disease or pathology BACKGROUND: Filamin C (FLNC) is an actin crosslinking protein that provides structural support for the sarcomere. The exact function of FLNC is unknown; however, mutations have been reported in myopathies and cardiomyopathies, but rarely both. In this paper, we describe a case of adult-onset camptocormia, proximal myopathy, and cardiomyopathy and an intronic FLNC mutation. CASE REPORT: A 56-year-old man was referred to the neurology clinic for truncal weakness. The patient reported having curvature of his spine, which he said his mother also had prior to her dying suddenly due to a “cardiac issue.” The patient was found to have fatty infiltration of the periscapular and paraspinal muscles. Additionally, electro-myography revealed irritable myopathy of the paraspinal muscles, and an echocardiogram revealed an ejection fraction of 40%. A genetic panel conducted through PerkinElmer Genomics revealed a heterozygous mutation c.1210+3A>G in the intron region of FLNC. Due to his low ejection fraction and family history of sudden cardiac death, he received an implantable cardioverter-defibrillator and began carvedilol. The patient received physical therapy for camptocormia. CONCLUSIONS: The variability in genotypic-phenotypic relationships of FLNC mutations is a growing area of research. It is important to increase awareness to further the development of gene-targeted therapies. We hope this unique clinical presentation of co-occurring skeletal and cardiomyopathy secondary to an intronic mutation will increase awareness of the broad phenotypic spectrum of FLNC mutations.
format Online
Article
Text
id pubmed-8455110
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher International Scientific Literature, Inc.
record_format MEDLINE/PubMed
spelling pubmed-84551102021-10-18 Cardiomyopathy, Proximal Myopathy, Camptocormia, and Novel Filamin C (FLNC) Variant: A Case Report Hooshmand, Sara Jasmin Govindarajan, Raghav Bostick, Brian P. Am J Case Rep Articles Patient: Male, 56-year-old Final Diagnosis: Camptocormia • cardiomyopathy • proximal myopathy Symptoms: Truncal weakness • weakness Medication: — Clinical Procedure: — Specialty: Neurology OBJECTIVE: Rare coexistence of disease or pathology BACKGROUND: Filamin C (FLNC) is an actin crosslinking protein that provides structural support for the sarcomere. The exact function of FLNC is unknown; however, mutations have been reported in myopathies and cardiomyopathies, but rarely both. In this paper, we describe a case of adult-onset camptocormia, proximal myopathy, and cardiomyopathy and an intronic FLNC mutation. CASE REPORT: A 56-year-old man was referred to the neurology clinic for truncal weakness. The patient reported having curvature of his spine, which he said his mother also had prior to her dying suddenly due to a “cardiac issue.” The patient was found to have fatty infiltration of the periscapular and paraspinal muscles. Additionally, electro-myography revealed irritable myopathy of the paraspinal muscles, and an echocardiogram revealed an ejection fraction of 40%. A genetic panel conducted through PerkinElmer Genomics revealed a heterozygous mutation c.1210+3A>G in the intron region of FLNC. Due to his low ejection fraction and family history of sudden cardiac death, he received an implantable cardioverter-defibrillator and began carvedilol. The patient received physical therapy for camptocormia. CONCLUSIONS: The variability in genotypic-phenotypic relationships of FLNC mutations is a growing area of research. It is important to increase awareness to further the development of gene-targeted therapies. We hope this unique clinical presentation of co-occurring skeletal and cardiomyopathy secondary to an intronic mutation will increase awareness of the broad phenotypic spectrum of FLNC mutations. International Scientific Literature, Inc. 2021-09-16 /pmc/articles/PMC8455110/ /pubmed/34526477 http://dx.doi.org/10.12659/AJCR.932648 Text en © Am J Case Rep, 2021 https://creativecommons.org/licenses/by-nc-nd/4.0/This work is licensed under Creative Common Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) )
spellingShingle Articles
Hooshmand, Sara Jasmin
Govindarajan, Raghav
Bostick, Brian P.
Cardiomyopathy, Proximal Myopathy, Camptocormia, and Novel Filamin C (FLNC) Variant: A Case Report
title Cardiomyopathy, Proximal Myopathy, Camptocormia, and Novel Filamin C (FLNC) Variant: A Case Report
title_full Cardiomyopathy, Proximal Myopathy, Camptocormia, and Novel Filamin C (FLNC) Variant: A Case Report
title_fullStr Cardiomyopathy, Proximal Myopathy, Camptocormia, and Novel Filamin C (FLNC) Variant: A Case Report
title_full_unstemmed Cardiomyopathy, Proximal Myopathy, Camptocormia, and Novel Filamin C (FLNC) Variant: A Case Report
title_short Cardiomyopathy, Proximal Myopathy, Camptocormia, and Novel Filamin C (FLNC) Variant: A Case Report
title_sort cardiomyopathy, proximal myopathy, camptocormia, and novel filamin c (flnc) variant: a case report
topic Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8455110/
https://www.ncbi.nlm.nih.gov/pubmed/34526477
http://dx.doi.org/10.12659/AJCR.932648
work_keys_str_mv AT hooshmandsarajasmin cardiomyopathyproximalmyopathycamptocormiaandnovelfilamincflncvariantacasereport
AT govindarajanraghav cardiomyopathyproximalmyopathycamptocormiaandnovelfilamincflncvariantacasereport
AT bostickbrianp cardiomyopathyproximalmyopathycamptocormiaandnovelfilamincflncvariantacasereport