NOVEL FBLN5 MUTATION OF CONGENITAL AUTOSOMAL RECESSIVE CUTIS LAXA WITH ISOLATED RIGHT VENTRICULAR NON-COMPACTION (RVNC): NEW FINDINGS ON ECHOCARDIOGRAPHIC SPECKLE-TRACKING STRAIN IMAGING OF RVNC

摘要

We report on a novel mutation in a two-year-old child with autosomal recessive cutis laxa with severe generalized laxity of the skin, prematurely aged appearance, conjunctival chalasia, episodes of severe rectal prolapse, isolated right ventricular non-compaction, (RVNC), significant pulmonary hypertension at the systemic arterial pressure level, severe tricuspid regurgitation, corpulmonale secondary to recurrent pulmonary infections, and mixed pulmonary fibrosis and emphysema. Next generation sequencing of cutis laxa genes identified a novel homozygous mutation in the FBLN5 gene (homozygous sequence alteration of c.907C>T [p. Gin303*] FBLN5 [ENST00000342058]). Despite severeandgeneralized disorder in the patient’s connective tissues, shehadnoprimary valvar or vascular abnormalities in the heart. Complete speckle-tracking strain imaging (SI) by two-dimensional echocardiography showed decreased systolic longitudinal and transverse strain in the involved segment of the right ventricle (RV).