Abstract
BackgroundRestrictive cardiomyopathy is a rare cardiac disease, for which several genes including TNNT2, MYPN, FLNC and TNNI3 have been associated with its familial form.Case presentationHere 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.ConclusionThese observations point to a recessive mode of inheritance reported for the first time for this combination of gene/disease.
Highlights
Restrictive cardiomyopathy is a rare cardiac disease, for which several genes including TNNT2, MYPN, FLNC and TNNI3 have been associated with its familial form
Restrictive cardiomyopathy (RCM) is a rare cardiac disorder that manifests primarily as an abnormality of diastolic filling, which is reported as a reduced ventricular compliance or increased stiffness, leading to reduced diastolic volume with preserved systolic function [1]
Several studies have confirmed that RCM can be inherited in a familial manner (MIM#PS115210) and mutations in several genes have been associated with the restrictive phenotype i.e. TNNT2 (MIM*191045) [2], MYPN (MIM*608517) [3] and FLNC (MIM*102565) [4]
Summary
Restrictive cardiomyopathy is a rare cardiac disease, for which several genes including TNNT2, MYPN, FLNC and TNNI3 have been associated with its familial form. We describe here a female patient with a severely manifested phenotype of RCM leading to heart transplantation at the age of 41, attributed to an homozygous mutation in the gene encoding the cTnI (TNNI3).
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