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Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene

(2014) EUROPEAN RADIOLOGY. 24(8). p.1742-1748
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Abstract
We present the imaging findings of a newly identified lethal arteriopathy associated with a novel mutation in the gene encoding fibulin-4, occurring in a distinct community from southern India. A total of 31 children from a distinct population subgroup who presented with characteristic arterial dilatation and tortuosity were studied. All children except one belonged to unrelated families from an ethno-religious group (Muslim) from the northern coastal belt of southern India. CT angiography was performed in 30 children and contrast MRA in one. Impressive dilatation and elongation of ascending aorta, arch, descending aorta and main pulmonary arteries with characteristic narrowing of aortic isthmus were seen in all patients. Stenosis of arch branches, abdominal visceral branches and pulmonary artery branches was observed in 21 (68 %), 23 (62.5 %) and 20 (65 %) patients respectively. Genetic studies revealed an identical mutation in exon 7 of the FBLN4 gene. On follow-up, 27 of them had died before the age of 3 years and only two children were alive after the age of 4 years. FBLN4-associated vasculopathy is a highly lethal disease characterized by severe aneurysmal dilatation of thoracic aorta, its branches and pulmonary arteries with stenoses at typical locations. - Homozygous mutations in exon 7 of the FBLN4 gene can produce lethal vasculopathy. - Fibulin-4 is a critical determinant in human elastogenesis. - Imaging findings can give a clue to underlying connective tissue disorders.
Keywords
CT angiography, Connective tissue disorder, Aortic aneurysm, Fibulin-4 mutation, Arterial tortuosity, ARTERIAL TORTUOSITY SYNDROME, EHLERS-DANLOS-SYNDROME, CONNECTIVE-TISSUE DISORDERS, CUTIS LAXA SYNDROME, MARFAN-SYNDROME, FIBULIN-4 DEFICIENCY, ANEURYSMS, MANIFESTATIONS, ANGIOGRAPHY, CHILDREN

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Citation

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Chicago
Rajeshkannan, Ramiah, Chinmay Kulkarni, Mahesh Kappanayil, Sheela Nampoothiri, Fransiska Malfait, Anne De Paepe, and Srikanth Moorthy. 2014. “Imaging Findings in a Distinct Lethal Inherited Arteriopathy Syndrome Associated with a Novel Mutation in the FBLN4 Gene.” European Radiology 24 (8): 1742–1748.
APA
Rajeshkannan, R., Kulkarni, C., Kappanayil, M., Nampoothiri, S., Malfait, F., De Paepe, A., & Moorthy, S. (2014). Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene. EUROPEAN RADIOLOGY, 24(8), 1742–1748.
Vancouver
1.
Rajeshkannan R, Kulkarni C, Kappanayil M, Nampoothiri S, Malfait F, De Paepe A, et al. Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene. EUROPEAN RADIOLOGY. 2014;24(8):1742–8.
MLA
Rajeshkannan, Ramiah, Chinmay Kulkarni, Mahesh Kappanayil, et al. “Imaging Findings in a Distinct Lethal Inherited Arteriopathy Syndrome Associated with a Novel Mutation in the FBLN4 Gene.” EUROPEAN RADIOLOGY 24.8 (2014): 1742–1748. Print.
@article{5749001,
  abstract     = {We present the imaging findings of a newly identified lethal arteriopathy associated with a novel mutation in the gene encoding fibulin-4, occurring in a distinct community from southern India. 
A total of 31 children from a distinct population subgroup who presented with characteristic arterial dilatation and tortuosity were studied. All children except one belonged to unrelated families from an ethno-religious group (Muslim) from the northern coastal belt of southern India. CT angiography was performed in 30 children and contrast MRA in one. 
Impressive dilatation and elongation of ascending aorta, arch, descending aorta and main pulmonary arteries with characteristic narrowing of aortic isthmus were seen in all patients. Stenosis of arch branches, abdominal visceral branches and pulmonary artery branches was observed in 21 (68 %), 23 (62.5 %) and 20 (65 %) patients respectively. Genetic studies revealed an identical mutation in exon 7 of the FBLN4 gene. On follow-up, 27 of them had died before the age of 3 years and only two children were alive after the age of 4 years. 
FBLN4-associated vasculopathy is a highly lethal disease characterized by severe aneurysmal dilatation of thoracic aorta, its branches and pulmonary arteries with stenoses at typical locations. 
- Homozygous mutations in exon 7 of the FBLN4 gene can produce lethal vasculopathy. 
- Fibulin-4 is a critical determinant in human elastogenesis. 
- Imaging findings can give a clue to underlying connective tissue disorders.},
  author       = {Rajeshkannan, Ramiah and Kulkarni, Chinmay and Kappanayil, Mahesh and Nampoothiri, Sheela and Malfait, Fransiska and De Paepe, Anne and Moorthy, Srikanth},
  issn         = {0938-7994},
  journal      = {EUROPEAN RADIOLOGY},
  keywords     = {CT angiography,Connective tissue disorder,Aortic aneurysm,Fibulin-4 mutation,Arterial tortuosity,ARTERIAL TORTUOSITY SYNDROME,EHLERS-DANLOS-SYNDROME,CONNECTIVE-TISSUE DISORDERS,CUTIS LAXA SYNDROME,MARFAN-SYNDROME,FIBULIN-4 DEFICIENCY,ANEURYSMS,MANIFESTATIONS,ANGIOGRAPHY,CHILDREN},
  language     = {eng},
  number       = {8},
  pages        = {1742--1748},
  title        = {Imaging findings in a distinct lethal inherited arteriopathy syndrome associated with a novel mutation in the FBLN4 gene},
  url          = {http://dx.doi.org/10.1007/s00330-014-3205-y},
  volume       = {24},
  year         = {2014},
}

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