Juvenile 'cryptogenic' stroke from noncompaction in a neuromuscular disease

Juvenile, 'cryptogenic' stroke from left-ventricular hypertrabeculation/noncompaction (LVHT) missed on transthoracic echocardiography (TTE) but present on transesophageal echocardiography (TEE) has not been reported before. A 31-year-old Caucasian male experienced a small acute embolic ischemic stroke in the anterior territory of the left median-cerebral artery. He had a history of epilepsy until the age of 12 years with rare seizures, headache 6 weeks prior to admission and a speech disturbance lasting 2 h. He smoked 20 cigarettes per day. An intensive diagnostic work-up including TTE did not reveal the cause of the stroke. Upon TEE, however, LVHT was found. Cardiac MRI did not reveal intraventricular thrombi. There were mild indications for a neuromuscular disorder. LVHT may be a risk factor for cardioembolic stroke. Patients with cryptogenic stroke and normal TTE should undergo TEE. Patients with LVHT should undergo neurological investigation to look for neuromuscular disorders. © 2014 S. Karger AG, Basel.