Article Text

  1. J. Martinez1,
  2. H. Franqui1,
  3. R. Calderon1
  1. 1University of Puerto Rico, San Juan, PR.


A 25-year-old man with dilated cardiomyopathy and epilepsy presented to the emergency department because of sudden onset of slurred speech and weakness of the right-sided extremities. He had been diagnosed with dilated cardiomyopathy 5 months prior to this incident, when he presented signs and symptoms of congestive heart failure and a two-dimensional echocardiogram demonstrated a dilated heart with global hypokinesia, severe mitral regurgitation, and an estimated ejection fraction of 20%. One month prior to admission, an echocardiogram demonstrated an apical thrombus, and the patient was started on warfarin. Initial examination revealed mild dysarthria, right nasolabial fold flattening, deviation of the tongue to the right side, 0/5 strength in the right upper extremity, and 2/5 strength in the right lower extremity. A grade 2/6 systolic murmur at the left lower sternal border was also appreciated. Head computed tomography revealed no evidence of acute intracranial pathology. Laboratory analyses were unremarkable, except for an INR of 1.7. The next day, all neurologic symptoms had fully resolved. A transthoracic echocardiogram with contrast media demonstrated a thin epicardium with extremely hypertrophied endocardium and prominent trabeculae with deep recesses, consistent with ventricular noncompaction cardiomyopathy. Noncompaction of the ventricular myocardium is a rare congenital cardiomyopathy resulting from arrested myocardial development during embryogenesis. During the first 8 weeks of gestation, the myocardium consists of a meshwork of interwoven fibers that form trabeculae, which allow oxygenation of tissue prior to the formation of the coronary arteries. Under normal circumstances, as the epicardial coronary vessels develop, the myocardium undergoes compaction. The process of compaction is not completed in these patients due to mutations in the gene G4.5 on the Xq28 chromosomal region. This condition is extremely rare and is often missed on conventional echocardiography.

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