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

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 Publisher

Malakan Rad E^{1, 2} ; Zeinaloo AA^{1, 2} ; Kariminejad A³ ; Kornak U⁴ ; Fischerzirnsak B² ; Mohamadpour M^{1, 2}

Show Affiliations

1. Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran
2. Childrenâ€™s Medical Center, Pediatrics Center of Excellence, Tehran, Iran
3. Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran
4. Institut fuer Medizinische Genetik und Humangenetik, Berlin-Brandenburg Centrum fuer Regenerative Therapien, Charite-Universitaetsmedizin Berlin, Berlin, Germany

Source: Iranian Journal of Pediatrics Published:2016

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 severe and generalized disorder in the patient’s connective tissues, she had no primary 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). © 2016, Growth & Development Research Center.

Style	Citing Format
MLA	Malakan Rad E, et al.. "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, 2016, pp. -.
APA	Malakan Rad E, Zeinaloo AA, Kariminejad A, Kornak U, Fischerzirnsak B, Mohamadpour M (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), -.
Chicago	Malakan Rad E, Zeinaloo AA, Kariminejad A, Kornak U, Fischerzirnsak B, Mohamadpour M. "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, no. 6 (2016): -.
Harvard	Malakan Rad E et al. (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), pp. -.
Vancouver	Malakan Rad E, Zeinaloo AA, Kariminejad A, Kornak U, Fischerzirnsak B, Mohamadpour M. 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. 2016;26(6):-.
BibTex	@article{ author = {Malakan Rad E and Zeinaloo AA and Kariminejad A and Kornak U and Fischerzirnsak B and Mohamadpour M}, 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}, journal = {Iranian Journal of Pediatrics}, volume = {26}, number = {6}, pages = {-}, year = {2016} }
RIS	TY - JOUR AU - Malakan Rad E AU - Zeinaloo AA AU - Kariminejad A AU - Kornak U AU - Fischerzirnsak B AU - Mohamadpour M TI - 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 JO - Iranian Journal of Pediatrics VL - 26 IS - 6 SP - EP - PY - 2016 ER -

Style

Citing Format

MLA

Malakan Rad E, et al.. "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, 2016, pp. -.

APA

Malakan Rad E, Zeinaloo AA, Kariminejad A, Kornak U, Fischerzirnsak B, Mohamadpour M (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), -.

Chicago

Malakan Rad E, Zeinaloo AA, Kariminejad A, Kornak U, Fischerzirnsak B, Mohamadpour M. "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, no. 6 (2016): -.

Harvard

Malakan Rad E et al. (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), pp. -.

Vancouver

Malakan Rad E, Zeinaloo AA, Kariminejad A, Kornak U, Fischerzirnsak B, Mohamadpour M. 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. 2016;26(6):-.

BibTex

@article{ author = {Malakan Rad E and Zeinaloo AA and Kariminejad A and Kornak U and Fischerzirnsak B and Mohamadpour M}, 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}, journal = {Iranian Journal of Pediatrics}, volume = {26}, number = {6}, pages = {-}, year = {2016} }

RIS

TY - JOUR
AU - Malakan Rad E
AU - Zeinaloo AA
AU - Kariminejad A
AU - Kornak U
AU - Fischerzirnsak B
AU - Mohamadpour M
TI - 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
JO - Iranian Journal of Pediatrics
VL - 26
IS - 6
SP -
EP -
PY - 2016
ER -

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