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abstractpubmed· Abstract 2021· item PMID:33542011

Cardiac arrest in a patient with trichorhinophalangeal syndrome and dilated cardiomyopathy. 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.