Excessive trabeculation cardiomyopathy complicated by acute thalamic infarct in an adult female (QF_SA_117)

A 35-year-old female presented with altered sensorium, diplopia and vertical gaze palsy for one day. She had no chronic illness in the past with insignificant family history. On presentation, the heart rate was 72 per minute, the blood pressure was 110/70 mm Hg and oxygen saturation was 94%. Magnetic resonance imaging of the brain revealed T2 and FLAIR hyperintensities in bilateral paramedian thalami and rostral mid brain with diffusion restriction suggestive of acute infarct. (Figure 1) Echocardiography done further to rule out thrombus demonstrated dilated left atrium, left ventricle (LV) with global LV hypokinesia and severe LV systolic dysfunction. There was mild mitral regurgitation with suggestion of excessive trabeculation in the LV cavity.

Diagnostic Techniques and Their Most Important Findings:

Cardiac magnetic resonance imaging (CMR) done for further characterization revealed dilated LV measuring 68 mm in end-diastole with global hypokinesia. Excessive trabeculations were noted in the apical and mid cavity LV predominantly involving the lateral wall. The trabecular to compact myocardial ratio was 3.2 at end-diastole. Patchy late gadolinium enhancement was noted in the trabeculations in the lateral mid cavity LV with a sub-endocardial infarct in the inferior segment of mid LV. (Figure 2) No intracardiac thrombus was seen. The coronary evaluation was normal. Family screening and genetic testing has been advised to the patient.

Learning Points from this Case:

Excessive trabeculation is a ventricular phenotype identified by imaging studies like echocardiography and CMR. Compared to echocardiography, CMR has greater contrast resolution in depiction of excessive trabeculations.  IThe thromboembolic phenomenon in the present case can be attributed to the sluggish blood flow within the trabecular layer. The present cases highlights that adults with excessive trabeculation cardiomyopathy are at risk for significant complications such as heart failure, stroke and arrythmias. In an adult with no risk factors for stroke, cardiac examination is warranted to rule out this rare cardiomyopathy.