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

• Main Authors: Malena P. Pantou (Author), Polyxeni Gourzi (Author), Aggeliki Gkouziouta (Author), Iakovos Armenis (Author), Loukas Kaklamanis (Author), Christianna Zygouri (Author), Pantelis Constantoulakis (Author), Stamatis Adamopoulos (Author), Dimitrios Degiannis (Author)
• Format: Book
• Published: BMC, 2019-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 t...