Fetal Noncompaction Cardiomyopathy and Histologic Diagnosis of Spongy Myocardium: Case Report and Review of the Literature

Abstract

Noncompaction cardiomyopathy (NCCM) and left ventricular noncompaction (LVNC), in their isolated form, are rare cardiomyopathies. They are characterized by a thickened myocardium due to the presence of deep trabeculae recesses, and to thick trabeculae. This condition is associated with a variable clinical phenotype including heart failure, thromboembolism, and sudden death. We report a case of LVNC at 26 weeks and 4 days of gestation revised on the basis of what is currently reported in the literature. A review of the literature was performed to better describe this rare condition. Left ventricular noncompaction is a rare fetal condition and it should be suspected in case of cardiomyopathy.

Diagnóstico prenatal de no compactación del miocardio ventricular: presentación de un caso

“…En la bibliografía consultada (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19) se resume las posibles causas de esta entidad, entre las que destacan proteínas con mutaciones genéticas, probablemente responsables de la aparición Figura 2. Curvas de deFormaCión y su respeCtiva tasa de deForma-Ción (strain y strain rate) de ambos ventríCulos del Caso Con la mioCardiopatía no CompaCtada (CírCulos rojos a y b), Con evidentes diFerenCias si se las Compara Con Caso Control normal (C y d, CírCulos verdes) de la misma edad gestaCional (31 semanas).…”

Comments on: Isolated Nonocompaction Suggests Subclinical Myopathy

“…We would like to thank the authors for their interest in our work titled "Fetal Noncompaction Cardiomyopathy and Histologic Diagnosis of Spongy Myocardium: Case Report and Review of the Literature". 1 We report a case of antenatal diagnosis of LVNC with no other cardiac or extracardiac anomalies at 26 weeks of gestation. We have read their considerations and offer responses to every point of the letter in order to enhance both the scientific value and clarity of the manuscript.…”

“…In fact, as discussed in our study, patients with LVNC should be submitted to screening for congenital cardiac defects, genetic anomalies, and neuromuscular and metabolic diseases. 1 We greatly appreciate the author's final considerations. However, we want to highlight that our case is based on an antenatal diagnosis of LVNC that was consecutive to the finding of cardiomegaly determined by the altered relationship between the thoracic circumference and the cardiac circumference and the consequent alteration of the cardiac contractility with hypomobilty.…”

“…As already mentioned in our paper, the fetus underwent only a classic and not molecular karyotype study that was normal. 1 The autopsy revealed that death was due to heart failure and the histological diagnosis was: "left ventricular heart wall characterized by accentuated muscular trabeculation and deep recesses affecting half of the entire thickness", consistent with the sponge myocardium framework. No histological, immunological or biochemical studies on the fetal muscle tissue were performed in order to evaluate the association with neuromuscular disorders.…”

“…The autopsy did not reveal any cardiac abnormality in addition to LVHT. 1 Thus, I have a few comments and concerns.…”