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Isolated non-compaction of the myocardium diagnosed in the fetus: two sporadic and two familial cases

Published online by Cambridge University Press:  15 August 2006

Claudia Moura
Affiliation:
Prenatal Cardiology, Hospital Robert Debré, Paris, France
Yvette Hillion
Affiliation:
Pathology, Hospital Robert Debré, Paris, France
Farida Daikha-Dahmane
Affiliation:
Pathology, Hospital Robert Debré, Paris, France
Patrice Eydoux
Affiliation:
Genetics, Hospital Robert Debré, Paris, France
Catherine Fallet
Affiliation:
Pathology, Hospital Robert Debré, Paris, France
Jean François Oury
Affiliation:
Obstetrics, Hospital Robert Debré, Paris, France
Annabelle Azancot
Affiliation:
Prenatal Cardiology, Hospital Robert Debré, Paris, France

Abstract

Isolated non-compaction of the ventricular myocardium is characterized by numerous and prominent trabeculations and deep intertrabecular recesses. This rare disease is due to an arrest of myocardial morphogenesis. Most cases, when seen in children, are associated with obstructive malformations. Isolated non-compaction is even rarer in childhood, and affects predominantly the myocardium of the left ventricle. Morbidity and mortality resulting from cardiovascular complications is high. In most cases, transplantation is the final option. To our knowledge, this rare cardiac malformation has yet to be diagnosed in the fetus. We report here two sporadic cases, one male and one female, and 2 familial cases, both male, which were diagnosed prenatally and followed by fetal echocardiography. Our study indicates that isolated non-compaction is a primary disorder of early fetal development. Our cross-sectional echocardiographic examinations revealed a fetal cardiomyopathy, with prominent and numerous trabeculations and deep intertrabecular recesses of the myocardium at the apex of the ventricles. In contrast with postnatal experience, we found isolated non-compaction mostly in the right ventricle. Systolic dysfunction was found in all cases. The diagnosis was confirmed by histology in 3 fetuses dying with cardiac failure, and by postnatal cross-sectional echocardiography in the fetus who survived. Two male fetuses belonged to a family in which 3 individuals were subsequently found to be affected. We discuss the issues of prenatal diagnosis, natural history, and myocardial histology.

Type
Original Article
Copyright
2002 Cambridge University Press

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