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Case Report

Clinical Exome Sequencing Revealed a De Novo FLNC Mutation in a Child with Restrictive Cardiomyopathy

1
Cardiology Unit, Meyer Children’s Hospital, 50139 Florence, Italy
2
Cardiomyopathy Unit, Careggi University Hospital, University of Florence, 50134 Florence, Italy
*
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
Academic Editor: Matteo Vatta
Cardiogenetics 2022, 12(2), 206-211; https://doi.org/10.3390/cardiogenetics12020019
Received: 28 March 2022 / Revised: 2 June 2022 / Accepted: 6 June 2022 / Published: 10 June 2022
(This article belongs to the Special Issue Cardiogenetics: Feature Papers 2022)
Restrictive cardiomyopathy (RCM) is a rare disease of the myocardium caused by mutations in several genes including TNNT2, DES, TNNI3, MYPN and FLNC. Individuals affected by RCM often develop heart failure at a young age, requiring early heart transplantation. A 7-year-old patient was referred for genetic testing following a diagnosis of restrictive cardiomyopathy. Clinical exome sequencing analysis identified a likely pathogenic mutation in the FLNC gene [(NM_001458.5 c.6527_6547dup p.(Arg2176_2182dup)]. Its clinical relevance was augmented by the fact that this variant was absent in the parents and was thus interpreted as de novo. Genetic testing is a powerful tool to clarify the diagnosis, guide intervention strategies and enable cascade testing in patients with pediatric-onset RCM. View Full-Text
Keywords: restrictive cardiomyopathy; exome sequencing; FLNC restrictive cardiomyopathy; exome sequencing; FLNC
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MDPI and ACS Style

Girolami, F.; Passantino, S.; Ballerini, A.; Gozzini, A.; Porcedda, G.; Olivotto, I.; Favilli, S. Clinical Exome Sequencing Revealed a De Novo FLNC Mutation in a Child with Restrictive Cardiomyopathy. Cardiogenetics 2022, 12, 206-211. https://doi.org/10.3390/cardiogenetics12020019

AMA Style

Girolami F, Passantino S, Ballerini A, Gozzini A, Porcedda G, Olivotto I, Favilli S. Clinical Exome Sequencing Revealed a De Novo FLNC Mutation in a Child with Restrictive Cardiomyopathy. Cardiogenetics. 2022; 12(2):206-211. https://doi.org/10.3390/cardiogenetics12020019

Chicago/Turabian Style

Girolami, Francesca, Silvia Passantino, Adelaide Ballerini, Alessia Gozzini, Giulio Porcedda, Iacopo Olivotto, and Silvia Favilli. 2022. "Clinical Exome Sequencing Revealed a De Novo FLNC Mutation in a Child with Restrictive Cardiomyopathy" Cardiogenetics 12, no. 2: 206-211. https://doi.org/10.3390/cardiogenetics12020019

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