Rare phenotypes related to novel autosomal recessive TTN truncating mutations: Escobar syndrome and congenital heart defect in two Brazilian patients


The TTN gene is related to a broad phenotype spectrum including tibial muscular dystrophy, hereditary myopathy with respiratory failure, limb girdle dystrophy 2J and dilated or hypertrophic cardiomyopathy. In 2014, Chauveau et al, described new phenotypes including cardiac septal defects, left ventricular non-compaction, Emery-Dreifuss dystrophy and arthrogryposis. We describe two patients with recessive TTN truncating mutations and rare phenotypes: one presenting as Escobar syndrome and the other with myopathy and cardiac septal defects associated to left ventricular non-compaction.


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