Cardiac arrest in a patient with trichorhinophalangeal syndrome and dilated cardiomyopathy

Abstract

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.

Figure 1

ECG showing normal sinus rhythm with ventricular ectopics, T-wave inversion noted in leads V3–V6 taken on arrival to the emergency department.

Figure 2

Cardiac monitoring showing runs of broad complex tachycardia while on the intensive care unit.

Figure 3

Cardiac MR parasternal and short axis images. Images show moderate to severe left ventricular systolic dysfunction (ejection fraction 35%) with moderate left ventricular dilatation with an EDV of 236 mL (normal range 90–171 mL). Right ventricular systolic function is normal with no right ventricular dilatation. There is mild left atrial enlargement (left atrial area 29 cm², right atrial area 20 cm²). There is hyperenhancement at the inferior RV insertion point. Appearances are suggestive of a non-ischaemic dilated cardiomyopathy. EDV, end-diastolic volume; LV left ventricle; RV right ventricle.