Familial biventricular myocardial noncompaction associated with Ebstein's malformation.

BACKGROUND

Noncompaction of the ventricular myocardium is a rare congenital cardiomyopathy characterized by numerous excessively prominent trabeculations and deep intertrabecular recesses. Noncompaction of the ventricular myocardium is most often an isolated cardiac malformation presenting as a sporadic disease. Associated cardiac anomalies are present in some patients. We report a family with three adult males from consecutive generations having a biventricular form of noncompaction of the myocardium. Two of the patients have an associated Ebstein's malformation of the tricuspid valve.

METHODS

Clinical evaluation and follow-up, electrocardiography, echocardiography, heart catheterization, coronary angiography, contrast cineventriculography, and magnetic resonance imaging.

RESULTS AND

CONCLUSIONS

The association of noncompaction of the ventricular myocardium and Ebstein's malformation has not been reported so far. We believe that both defects were caused by a developmental arrest of the right ventricular myocardium. Echocardiography is the diagnostic modality of choice in patients and in the male relatives, irrespective of their clinical status. Thromboembolic events, cardiac rhythm disorders and heart failure mandate treatment. Anticoagulation treatment and implantation of cardioverter-defibrillator pacemaker have to be strongly considered in these patients.