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

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.

Fetal Ventricular Hypertrabeculation/Noncompaction: Clinical Presentation, Genetics, Associated Cardiac and Extracardiac Abnormalities and Outcome

“…Before the year 2000, only one further report was published [62]. Between 2000 to 2009, 29 cases (33 %) were published [1,7,12,17,24,32,38,39,43,44,48,49]. Since 2010, 57 cases (65 %) were published [3,4,14,28,30,41,45,47,52,55,57,58,60].…”

Reversed Pulmonary Artery Flow in Isolated Noncompaction of the Ventricular Myocardium

“…Prenatal diagnosis has been reported at 24, 27 and 30 weeks [8][9][10] . The fetuses presented with a dilated left ventricle [10] and echocardiography also revealed prominent and numerous trabeculations and deep intertrabecular recesses of the myocardium at the apex of the ventricles, mostly in the right ventricle, including systolic dysfunction [9] .…”

“…The fetuses presented with a dilated left ventricle [10] and echocardiography also revealed prominent and numerous trabeculations and deep intertrabecular recesses of the myocardium at the apex of the ventricles, mostly in the right ventricle, including systolic dysfunction [9] . In other cases, the diagnosis of cardiomyopathy was made prenatally, but noncompaction myocardium has only been diagnosed postmortem [11] .…”

Prenatal Diagnosis of Omphalocele and Left Atrial Isomerism (Polysplenia) Including Complex Congenital Heart Disease With Ventricular Noncompaction Cardiomyopathy

“…Prenatal diagnosis of VNC can usually be made by a standard fetal anatomic sonographic 4-chamber view or by fetal echocardiography; the earliest prenatal sonographic 17 A review of the literature revealed 5 previously published reports comprising a total of 15 cases in which the diagnosis of VNC was made prenatally (Table 1). [17][18][19][20][21] More than half of the ongoing pregnancies (5 were terminated) resulted in fetal or neonatal death. Only 4 of 10 ongoing pregnancies had live births.…”

“…Only 4 of 10 ongoing pregnancies had live births. Common findings in the cases diagnosed prenatally included fetal cardiomegaly, fetal hydrops, and fetal bradycardia, 17 suggesting that the more severe end of this spectrum (VNC) manifests early in prenatal life. This diagnosis should be included in the differential diagnosis for cardiac causes of hydrops.…”