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

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MALAKAN RAD ELAHEH; ZEINALOO ALI AKBAR; KARIMINEJAD ARIANA; Kornak Uwe; Fischer Zirnsak Bjorn; Mohamadpour Masoud

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Journal: Iranian Journal of Pediatrics Year:2016 | Volume:26 | Issue:6 Page(s): 0-0

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Title

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

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Keywords

NOVEL FBLN5 MUTATION

AUTOSOMAL RECESSIVE CUTIS LAXA

RIGHT VENTRICULAR NON-COMPACTION

Abstract

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).

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APA: Copy

MALAKAN RAD, ELAHEH, ZEINALOO, ALI AKBAR, KARIMINEJAD, ARIANA, Kornak, Uwe, Fischer Zirnsak, Bjorn, & Mohamadpour, Masoud. (2016). 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. IRANIAN JOURNAL OF PEDIATRICS, 26(6), 0-0. SID. https://sid.ir/paper/703959/en

Vancouver: Copy

MALAKAN RAD ELAHEH, ZEINALOO ALI AKBAR, KARIMINEJAD ARIANA, Kornak Uwe, Fischer Zirnsak Bjorn, Mohamadpour Masoud. 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. IRANIAN JOURNAL OF PEDIATRICS[Internet]. 2016;26(6):0-0. Available from: https://sid.ir/paper/703959/en

IEEE: Copy

ELAHEH MALAKAN RAD, ALI AKBAR ZEINALOO, ARIANA KARIMINEJAD, Uwe Kornak, Bjorn Fischer Zirnsak, and Masoud Mohamadpour, “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,” IRANIAN JOURNAL OF PEDIATRICS, vol. 26, no. 6, pp. 0–0, 2016, [Online]. Available: https://sid.ir/paper/703959/en

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