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 "first case" symptom

  • achondroplasia
  • adrenal incidentaloma
  • allergic bronchopulmonary aspergillosis
  • alpha-thalassemia
  • aniridia
  • aromatase deficiency
  • canavan disease
  • carcinoma of the gallbladder
  • child syndrome
  • cholangiocarcinoma
  • classical phenylketonuria
  • coats disease
  • cohen syndrome
  • congenital toxoplasmosis
  • cushing syndrome
  • cutaneous mastocytosis
  • dedifferentiated liposarcoma
  • dentin dysplasia
  • dracunculiasis
  • dystrophic epidermolysis bullosa
  • epidermolysis bullosa simplex
  • esophageal adenocarcinoma
  • esophageal carcinoma
  • fabry disease
  • familial mediterranean fever
  • focal myositis
  • gm1 gangliosidosis
  • harlequin ichthyosis
  • hodgkin lymphoma, classical
  • homocystinuria without methylmalonic aciduria
  • junctional epidermolysis bullosa
  • kabuki syndrome
  • krabbe disease
  • lamellar ichthyosis
  • legionellosis
  • liposarcoma
  • locked-in syndrome
  • malignant atrophic papulosis
  • monosomy 21
  • neonatal adrenoleukodystrophy
  • oculocutaneous albinism
  • omenn syndrome
  • papillon-lefèvre syndrome
  • pendred syndrome
  • pleomorphic liposarcoma
  • primary effusion lymphoma
  • primary hyperoxaluria type 1
  • proteus syndrome
  • pyomyositis
  • systemic capillary leak syndrome
  • thoracic outlet syndrome
  • von hippel-lindau disease
  • waldenström macroglobulinemia
  • well-differentiated liposarcoma
  • werner syndrome
  • wolf-hirschhorn syndrome
  • x-linked adrenoleukodystrophy

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