A case report of recessive restrictive cardiomyopathy caused by a novel mutation in cardiac troponin I (TNNI3). View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2019-12

AUTHORS

Malena P Pantou, Polyxeni Gourzi, Aggeliki Gkouziouta, Iakovos Armenis, Loukas Kaklamanis, Christianna Zygouri, Pantelis Constantoulakis, Stamatis Adamopoulos, Dimitrios Degiannis

ABSTRACT

BACKGROUND: Restrictive cardiomyopathy is a rare cardiac disease, for which several genes including TNNT2, MYPN, FLNC and TNNI3 have been associated with its familial form. CASE PRESENTATION: Here we describe a female proband with a severely manifested restrictive phenotype leading to heart transplantation at the age of 41, who was found homozygous for the novel TNNI3 mutation: NM_000363.4:c.586G > C, p.(Asp196His). Her parents were third-degree cousins originating from a small village and although they were found heterozygous for the same variant they displayed no symptoms of the disease. Her older sister who was also found heterozygous was asymptomatic. Her twin sister and her brother who were homozygous for the same variant displayed a restrictive and a hypertrophic phenotype, respectively. Their children are all carriers of the mutation and remain asymptomatic until the age of 21. CONCLUSION: These observations point to a recessive mode of inheritance reported for the first time for this combination of gene/disease. More... »

PAGES

61

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s12881-019-0793-z

DOI

http://dx.doi.org/10.1186/s12881-019-0793-z

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1113262042

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30953456


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