Criterion for fetal primary spongiform cardiomyopathy: restrictive pathophysiology

BACKGROUND: Most cardiomyopathies recognizable in utero are the dilated type—with dilated, poorly contractile left ventricle. We propose a diagnostic criterion for the rare spongiform (noncompacted) cardiomyopathy. CASES: Three perinatal cases with echocardiography and autopsy are presented. The apical ventricular myocardium was thickened and markedly trabeculated. The ventricles were not dilated in two, and the atria were enlarged in all. Hydrops and bradycardia were present in all three despite normal or only mildly diminished contractility. Although the cardiomyopathy was familial in two siblings, two of three cases were female, ruling out Barth syndrome (with sex-linked recessive inheritance). Although all three of our cases with hydrops died, rare survivors have been reported in the eighth decade. CONCLUSION: Although spongiform cardiomyopathy may eventually develop into a dilated cardiomyopathy, its early characteristic is relatively diagnostic: a restrictive cardiomyopathy with no enlargement of the ventricles and prominent atria.