Severe diastolic dysfunction as a clue to the cause of stroke: a case report

Background: The echocardiographic determination of cardiac causes of stroke focuses on the presence of left ventricular thrombus, valvular vegetations, and patent foramen ovale. Transoesophageal echocardiogram (TEE) is indicated when the transthoracic echocardiogram (TTE) is inconclusive or when there is clinical suspicion of cardiac causes that may have been missed by TTE. The presence of severe diastolic dysfunction on TTE in the absence of any other cardiac abnormality or cardiac history is not usually considered a clue to the cause of stroke. Case summary: This is a case of a 52-year-old woman who presented with a stroke. Transthoracic echocardiogram was inconclusive for source of embolus. Transoesophageal echocardiogram revealed left atrial appendage (LAA) thrombus and severely hypokinetic LAA, despite the patient being in normal sinus rhythm (NSR). Retrospective analysis of diastolic function on the prior TTE revealed severe restrictive diastolic dysfunction with evidence of elevated left ventricular end-diastolic pressure. While technetium pyrophosphate scan was negative, magnetic resonance imaging was consistent with cardiac amyloid and further testing revealed multiple myeloma as the cause of the amyloid light chain amyloidosis. This case highlights the importance of scrutinizing diastolic function in patients with a source of embolus and careful assessment for LAA thrombus on TEE, despite NSR. Discussion: We present a patient with stroke with inconclusive TTE findings and eventual diagnosis of restrictive cardiomyopathy secondary to cardiac amyloidosis from an undiagnosed multiple myeloma. Severe restrictive diastolic function on TTE may be a clue to the discovery of LAA thrombus on TEE.