Hostname: page-component-7bb8b95d7b-5mhkq Total loading time: 0 Render date: 2024-09-18T02:57:53.198Z Has data issue: false hasContentIssue false
  • English
  • Français

Rapidly progressive mitral valve stenosis in patients with acromelic dysplasia

Published online by Cambridge University Press:  12 January 2017

Gabriel Rama ,
Wendy K. Chung ,
Christopher M. Cunniff  and
Usha Krishnan
Gabriel Rama
Affiliation:
New York Presbyterian – Morgan Stanley Children’s Hospital of New York, Columbia University Medical Center, Division of Pediatric Cardiology, New York, New York, United States of America
Wendy K. Chung
Affiliation:
Division of Molecular Genetics, New York, New York, United States of America
Christopher M. Cunniff
Affiliation:
New York Presbyterian – Phyllis and David Komansky Center for Children’s Health, Weill Cornell Medical Center, Division of Clinical Genetics, New York, New York, United States of America
Usha Krishnan*
Affiliation:
New York Presbyterian – Morgan Stanley Children’s Hospital of New York, Columbia University Medical Center, Division of Pediatric Cardiology, New York, New York, United States of America
*
Correspondence to: U. Krishnan, MD, Associate Professor, Division of Pediatric Cardiology, Columbia University Medical Center, 3959 Broadway, New York, NY 10032, United States of America. Tel: (212) 305 4436; Fax: (212) 342-1443; E-mail: usk1@cumc.columbia.edu
Get access Rights & Permissions [Opens in a new window]

Abstract

Acromelic dysplasias are a group of skeletal dysplasias characterised by short-limbed short stature with other distinctive phenotypic features including small hands and feet and stiff joints. Geleophysic dysplasia is an acromelic dysplasia that is associated with characteristic facial features, progressive cardiac valvular thickening, and tracheal stenosis. Owing to overlapping clinical features with other types of short-limbed skeletal dysplasias, it is important to make a precise diagnosis as they have different cardiac morbidity and mortality. We present the cases of three patients with geleophysic dysplasia and progressive mitral valve disease to emphasise the natural history of this disorder and provide guidance regarding cardiac health supervision in these individuals.

Keywords

Mitral valve stenosisacromelic dysplasiageleophysic dysplasia
Type
Brief Report
Information
Cardiology in the Young , Volume 27 , Issue 4 , May 2017 , pp. 797 - 800
Check for updates
Copyright
© Cambridge University Press 2017 

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

1. Myhre, SA, Ruvalcaba, RH, Graham, CB. A new growth deficiency syndrome. Clin Genet 1981; 20: 1–5.CrossRefGoogle ScholarPubMed
2. Faivre, L, Le Merrer, M, Baumann, C, et al. Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance. J Med Genet 2001; 38: 745–749.CrossRefGoogle ScholarPubMed
3. Le Goff, C, Mahaut, C, Wang, L W, et al. Mutations in the TGFb binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet 2011; 89: 7–14.CrossRefGoogle Scholar
4. Vanace, P, Fried-man, S, Waagner, BM. Mitral stenosis in an atypical case of gargoylism: a case report with pathologic and histochemical studies of the cardiac tissues. Circulation 1960; 21: 80–89.CrossRefGoogle Scholar
5. Spranger, JW, Gilbert, EF, Tuffli, GA, Rossiter, FP, Opitz, JM. Geleophysic dwarfism: a ‘focal’ mucopolysaccharidosis? Lancet 1971; 2: 97–98.CrossRefGoogle ScholarPubMed
6. Elhoury, ME, Faqeih, E, Almoukirish, AS, Galal, MO. Cardiac Involvement in geleophysic dysplasia in three siblings of a saudi family. Cardiol Young 2015; 25: 81–86.CrossRefGoogle ScholarPubMed
7. Scott, A, Yeung, S, Dickinson, DF, Karbani, G, Crow, YJ. Clinical report natural history of cardiac involvement in geleophysic dysplasia. Am J Hum Genet. 2005; 132A: 320–323.Google Scholar
Supplementary material: File

Rama supplementary material

Rama supplementary material 1

Download Rama supplementary material(File)
File 12.1 MB
Supplementary material: File

Rama supplementary material

Rama supplementary material 2

Download Rama supplementary material(File)
File 8.2 MB
Supplementary material: File

Rama supplementary material

Rama supplementary material 3

Download Rama supplementary material(File)
File 35.3 KB