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.
- cardiovascular medicine
- heart failure
- genetic screening / counselling
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Contributors All authors were directly involved in the patient’s care and contributed to the creation of this article. All authors meet the International Committee of Medical Journal Editors Recommendations for the Conduct, Reporting, Editing and Publication of Scholarly Work in Medical Journals (ICMJE) criteria for authorship and GS is the lead and corresponding author. GS conceived the idea for the report. GS drafted the article. All authors were involved in the final approval of the version published. All authors are accountable for the article. EB drafted the article. All authors were involved in the final approval of the version published. All authors are accountable for the article. MS conceived the idea for the report. MS drafted the article. All authors were involved in the final approval of the version published. All authors are accountable for the article.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Patient consent for publication Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.
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