Brief report

Identification of a rare congenital anomaly of the myocardium by twodimensional echocardiography: Persistence of isolated myocardial sinusoids

Left ventricular non compaction (LVNC) is a relatively rare variety of cardiomyopathy of genetic origin.

We report three cases of LVNC diagnosed on cardiac magnetic resonance imaging (MRI) in Abidjan in patients aged 42, 46 and 60 years, referred for suspected LVNC on echocardiography.

We used a 1.5 T MRI and performed the following sequences: black blood and white blood, LV minor axis, LV major axis, 4 cavities, and T1 SPIR Gadolinium (early and late enhancement at 10 minutes).

MRI made the diagnosis of LVNC based on a double-layered myocardium, the inner (endocardium) non compacted, fibrillar thickened and the outer (epicardium) compacted thin with a non compacted to compacted myocardium ratio greater than 2.3, making the formal diagnosis.

Cardiac MRI is an excellent diagnostic tool for LVNC. Its recent use in Africa should be common in the management of this cardiomyopathy.

Left ventricular hypertrabeculation (LVHT) is a phenotype with multiple etiologies and variable clinical presentation and significance. It is characterized by a 2-layer myocardium with an enlarged trabecular layer and a thinner compacted layer. The prevalence has been increasing due to advances in cardiac imaging. Initial attention was focused on the congenital noncompaction syndrome, and the presence of LVHT was always attributed to this etiology. However, due to the lack of consensus diagnostic criteria, LVHT has now been reported in a broad spectrum of cardiomyopathies, congenital heart diseases, monogenetic disorders, neuromuscular diseases, and even healthy individuals. LVHT is often associated with systolic dysfunction, arrhythmias, and thromboembolic events. Given the etiologic heterogeneity, the prognosis and outcomes are primarily determined by comorbidities, and treatment is dictated by known guidelines. We present hypertrabeculation (HT) as a phenotype and discuss the varied landscape in the classification, etiology, diagnosis, and management of the condition.

The risk of adverse events in patients with left ventricular non-compaction cardiomyopathy (LVNC) is substantial. Information on prognostic factors, however, is limited. This study was designed to assess the prognostic value of right ventricular (RV) size and function in LVNC patients.

Cox regression analyses were used to determine the association of indexed RV end-diastolic area (RV-EDAI), indexed end-diastolic diameter (RV-EDDI), fractional area change (FAC), and tricuspid annular systolic excursion (TAPSE) with the occurrence of death or heart transplantation (composite endpoint).

Out of 127 patients (53.2 ± 17.8 years; 61% males, median follow-up time was 7.7 years), 17 patients reached the endpoint. In a univariate analysis, RV-EDAI was the strongest predictor of outcome [HR 1.48 (1.24–1.77) per cm²/m²; p < 0.0001]. FAC was predictive as well [HR 1.44 (1.16–1.83) per 5% decrease; p = 0.0009], while TAPSE was not (p=ns). RV-EDAI remained an independent predictor in a bivariable analysis with indexed left ventricular ED volume [HR 1.41 (1.18–1.70) per cm²/m²; p = 0.0002], while analysis of FAC and left ventricular ejection fraction demonstrated that FAC was not independent [HR 1.20 (0.98–1.52); per 5% decrease; p = 0.0721]. RV-EDAI 11.5 cm²/m² was the best cut-off value for separating patients in terms of outcome. Patients with RV-EDAI >11.5 cm²/m² had a survival rate of 18.5% over 12 years as compared to 93.8% in patients with RV-EDAI <11.5 cm²/m² (p < 0.0001).

Increased end-diastolic RV size and decreased systolic RV function are predictors of adverse outcome in patients with LVNC. Patients with RV-EDAI >11.5 cm²/m² exhibit a significantly lower survival than those <11.5 cm²/m².

It is unclear whether left ventricular noncompaction (LVNC) is a distinct cardiomyopathy or a morphologic manifestation of different cardiomyopathies. We previously reported a case of LVNC in a Fabry disease (FD) patient, but it remains to be clarified whether LVNC is a cardiac manifestation of FD, a coincidental finding or an overdiagnosis, which has major therapeutic implications. This study aims to determine the prevalence of FD among patients with LVNC.

We performed a retrospective study including all patients diagnosed with LVNC in eight hospital centers. Diagnosis of LVNC was based on at least one echocardiographic or cardiac magnetic resonance criterion. FD screening was performed by combined enzyme and genetic testing.

The study included 78 patients diagnosed with LVNC based on the Jenni (84.6%), Stöllberger (46.2%), Chin (21.8%), Petersen (83.8%) and Jacquier (16.2%) criteria. Left ventricular systolic dysfunction was present in 48.7%. Heart failure was found in 60.3%, ventricular dysrhythmias in 21.6% and embolic events in 11.5%. FD screening found no additional cases among patients with LVNC, besides the previously described case.

No additional FD cases were found among patients with LVNC, which argues against the hypothesis that LVNC is a cardiac manifestation of FD.

Não está esclarecido se a não compactação do ventrículo esquerdo (NCVE) é uma miocardiopatia distinta ou uma manifestação morfológica de várias miocardiopatias. Nós reportamos previamente um caso de NCVE num doente com doença de Fabry (DF), mas permanece por esclarecer se a NCVE é uma manifestação cardíaca de DF, um achado coincidente ou um sobrediagnóstico, o que tem importantes implicações terapêuticas. Este estudo pretende determinar a prevalência de DF em doentes com NCVE.

Estudo retrospetivo incluindo todos os doentes diagnosticados com NCVE em oito centros hospitalares. O diagnóstico de NCVE foi baseado em pelo menos um dos critérios de ecocardiografia ou ressonância cardíaca. O rastreio de DF foi realizado por teste enzimático e genético.

O estudo incluiu 78 doentes diagnosticados com NCVE com base nos critérios de Jenni (84,6%), Stöllberger (46,2%), Chin (21,8%), Petersen (83,8%) e Jacquier (16,2%). A disfunção sistólica do VE estava presente em 48,7%. A insuficiência cardíaca foi encontrada em 60,3%, as disritmias ventriculares em 21,6% e os eventos embólicos em 11,5%. O rastreio de DF não encontrou casos adicionais nos doentes com NCVE, para além do caso previamente descrito.

Não foram encontrados casos adicionais de DF nos doentes com NCVE, o que argumenta contra a hipótese de a NCVE ser uma manifestação cardíaca de DF.