Rare Diseases Symptoms Automatic Extraction

A rare case of percutaneous coronary intervention in achondroplasia.

[achondroplasia]

Achondroplastic individuals are associated with increased cardiac risk when compared to the general population. Coronary interventions in patients with achondroplasia have not been studied previously. We report the case of a 32-year-old male smoker with achondroplasia who presented with acute chest pain of 3 hours duration. He was diagnosed with acute inferior and right ventricular myocardial infarction and thrombolyzed with streptokinase. Since the patient continued to have pain and hypotension, he was taken for rescue percutaneous coronary intervention (PCI). Because of short stature and kyphoscoliosis, difficulties were faced in cannulating the coronaries and performing intervention. He had total occlusion of proximal right coronary artery, for which angioplasty with stenting was done. To our knowledge, this is the first case of PCI conducted in an achondroplastic patient.

Diseases presenting "short stature" symptom

  • 22q11.2 deletion syndrome
  • achondroplasia
  • alpha-thalassemia
  • aromatase deficiency
  • child syndrome
  • classical phenylketonuria
  • coats disease
  • cohen syndrome
  • congenital adrenal hyperplasia
  • cowden syndrome
  • dentin dysplasia
  • dentinogenesis imperfecta
  • fabry disease
  • hirschsprung disease
  • holt-oram syndrome
  • kabuki syndrome
  • kallmann syndrome
  • kindler syndrome
  • monosomy 21
  • oculocutaneous albinism
  • oligodontia
  • omenn syndrome
  • proteus syndrome
  • werner syndrome
  • wolf-hirschhorn syndrome
  • zellweger syndrome

This symptom has already been validated