Rapidly progressive mitral valve stenosis in patients with acromelic dysplasia

Cardiol Young. 2017 May;27(4):797-800. doi: 10.1017/S1047951116002006. Epub 2017 Jan 12.


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 stenosis; acromelic dysplasia; geleophysic dysplasia.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging*
  • Bone Diseases, Developmental / complications*
  • Bone Diseases, Developmental / diagnostic imaging
  • Child
  • Echocardiography
  • Female
  • Humans
  • Infant, Newborn
  • Limb Deformities, Congenital / complications*
  • Limb Deformities, Congenital / diagnostic imaging
  • Male
  • Mitral Valve / diagnostic imaging
  • Mitral Valve / physiopathology
  • Mitral Valve Stenosis / diagnostic imaging*
  • Pregnancy
  • Ultrasonography, Prenatal

Supplementary concepts

  • Acromicric dysplasia