Noncompaction of Myocardium (Hypertrabeculation)

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Cardiol Young. 2002 May;12(3):278-83.
Isolated non-compaction of the myocardium diagnosed in the fetus: two sporadic and two familial cases.
Moura C, Hillion Y, Daikha-Dahmane F, Eydoux P, Fallet C, Oury JF, Azancot A.
Hopital Robert Debre, 48 Boulevard Serrurier, Paris 7019, France.

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.

Ann Acad Med Singapore. 2001 Sep;30(5):539-41.
Isolated non-compaction of ventricular myocardium: a report of three cases.
Tong KL, Ding ZP.
Department of Cardiology, Changi General Hospital, 2 Simei Street 3, Singapore 529889.

INTRODUCTION: Isolated non-compaction of ventricular myocardium (INVM) is a rare disorder of myocardial morphogenesis in the absence of other cardiac anomalies. Both sporadic and sex-linked recessive forms have been described. It can be identified with two-dimensional echocardiography. CLINICAL PICTURE: We report a series of 3 cases of adult males with INVM in June 2000. Clinical manifestations were congestive cardiac failure with severely depressed left ventricle systolic function and stroke. One patient had biventricular INVM. CONCLUSION: Early diagnosis of INVM is important as it is associated with a high incidence of cardiac failure, ventricular arrhythmia and remobilisation. Anticoagulation and screening of first-degree relatives is advisable.

J Am Soc Echocardiogr. 2004 Jan;17(1):91-100.
Left ventricular hypertrabeculation/noncompaction.
Stollberger C, Finsterer J.
Krankenanstalt Rudolfstiftung, 2. Med. Abteilung, Vienna, Austria.

In normal human hearts the left ventricle (LV) has up to 3 prominent trabeculations and is, thus, less trabeculated than the right ventricle. Rarely, more than 3 prominent trabeculations can be found at autopsy and by various imaging techniques in the LV. For this abnormality, different synonyms are used such as spongy myocardium, LV noncompaction, and LV hypertrabeculation (LVHT). In this review it is stated that: (1) LVHT has a higher prevalence than previously thought and the prevalence of LVHT seems to increase with the improvement of cardiac imaging; (2) because LVHT is most frequently diagnosed primarily by echocardiography, echocardiographers should be aware and trained to recognize this abnormality; (3) LVHT is frequently associated with other cardiac and extracardiac, particularly neuromuscular, disorders; (4) there are indications that the cause of LVHT is usually a genetic one and quite heterogeneous; and (5) controversies exist about diagnostic criteria, nomenclature, prognosis, origin, pathogenesis, and the necessity to classify LVHT as a distinct entity and cardiomyopathy by the World Health Organization.

Z Kardiol. 2003 Nov;92(11):966-9.
Is left ventricular hypertrabeculation/ noncompaction a cardiac manifestation of Fabry's disease?
Stollberger C, Finsterer J, Voigtlander T, Slany J.
Steingasse 31/18, 1030, Wien, Austria.

BACKGROUND AND OBJECTIVES: Some types of hypertrophic cardiomyopathy are due to cardiac Fabry's disease. Since left ventricular hypertrabeculation/noncompaction (LVHT) is regarded a subtype of hypertrophic cardiomyopathy, we looked for the alpha-galactosidase levels in blood leukocytes of LVHT patients. METHODS: Included were male patients in whom LVHT was diagnosed between June 1995 and September 2002. Echocardiographic criteria for LVHT were 1) >3 trabeculations protruding from the left ventricular wall, apically to the papillary muscles, visible in 1 image plane, and 2) intertrabecular spaces perfused from the ventricular cavity, as visualised on colour Doppler imaging. Trabeculations were defined as structures with the same echogenicity as the myocardium and moving synchronously with the ventricular contractions. Excluded were patients with known neuromuscular disorders. All patients were asked for systemic manifestations of Fabry's disease and blood tests were taken. The alpha-galactosidase-A activity was determined by means of an established fluorometric assay in blood leukocytes. RESULTS: Forty-one patients were invited and 26 accepted the invitation. The remaining patients had died (n=5), lived abroad (n=5) or were unwilling (n=5). Among the 26 patients, aged 28-78 years, who followed the invitation, one had renal failure due to renal shrinkage and one had suffered from a stroke 3 years previously. Leukocyte alpha-galactosidase levels ranged from 70 to 188 nM/mg Prot/h (normal: > or =42 nM/mg Prot/h). In none of the patients was the alpha-galactosidase level reduced. CONCLUSION: LVHT does not seem to be a manifestation of cardiac Fabry's disease. To definitively exclude Fabry's disease, however, endomyocardial biopsy is required.

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