Main clinical features
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progressive myocardial disorder characterized by left ventricular dilation and systolic dysfunction, due to ribosomopathy as a cause for early-onset heart failure
patients in infancy developed idiopathic dilated cardiomyopathy (DCM) and underwent cardiac transplantation for end-stage heart failure
electron microscopy of explanted heart tissue from the affected patients revealed prototypic nucleolar segregation, indicative of perturbed TAF1A-dependent rRNA synthesis and nucleolar stress (PMID: 28472305)) |