Cardiac arrest in a patient with trichorhinophalangeal syndrome and dilated cardiomyopathy

BMJ Case Rep. 2021 Feb 4;14(2):e237604. doi: 10.1136/bcr-2020-237604.


A 44-year-old woman with known trichorhinophalangeal syndrome presented with an unheralded out of hospital cardiac arrest. Transthoracic echocardiography showed severe left ventricular systolic dysfunction with an ejection fraction <25% and cardiac MRI confirmed a diagnosis of congenital non-ischaemic dilated cardiomyopathy. The case highlights a very rare syndrome, it is previously unknown association with dilated cardiomyopathy and the possible benefit of cardiac screening for patients with known trichorhinophalangeal syndrome.

Keywords: arrhythmias; cardiovascular medicine; genetic screening / counselling; heart failure; resuscitation.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cardiomyopathy, Dilated / diagnosis*
  • Echocardiography
  • Female
  • Fingers / abnormalities*
  • Hair Diseases / complications*
  • Hair Diseases / genetics
  • Humans
  • Langer-Giedion Syndrome / complications*
  • Langer-Giedion Syndrome / genetics
  • Mass Screening
  • Nose / abnormalities*
  • Out-of-Hospital Cardiac Arrest*
  • Rare Diseases*
  • Risk Factors

Supplementary concepts

  • Trichorhinophalangeal Syndrome, Type I