Luigi Nappi1 Lorenzo Vasciaveo1 Felice Sorrentino1 Gennaro Scutiero2 Piergiorgio Iannone2 Pantaleo Greco2
1Department of Medical and Surgical Sciences, Institute of Obstetrics and Gynecology, Università di Foggia, Foggia, Italy
2Section of Obstetrics and Gynecology, Department of Morphology, Surgery and Experimental Medicine, Università degli Studi di Ferrara, Ferrara, Italy
Address for Correspondence: Piergiorgio Iannone, MD, Instituto di Ginecologia ed Obstetricia, Dipartimento Di Morfologia, Chirurgia e Medicina Sperimentale, Università degli Studi di Ferrara, Azienda, Ospedaliero-Universitaria S. Anna, Via Aldo Moro, 8. 44121, Cona, Ferrara, Italy (e-mail: pg.iannone88@gmail.com).
Dear Editor,
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.
The authors asked about any genetic testing perfomed. 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.
Focusing on the parents, as already described in our article,[1] they performed only an echocardiography that was normal. The family history was negative for cardiomyopathies.
Moreover, we can add that in a subsequent pregnancy, the parents underwent genetic testing (array comparative genomic hybridization [aCGH]) and their karyotype was compared with the fetal one (an amniocentesis was performed studying the classic and molecular karyotype as a result of a prenatally diagnosed central nervous system [CNS] malformation). The result was negative both parents and fetus.
With regards to the author's comment on the association with hypoplastic papillary muscles, we respectfully disagree. In an autopsy study of noncompaction in fetuses and neonates by Ursell,[2] pathologic criteria for noncompaction included hypoplastic left ventricular papillary muscles, abnormal trabecular architecture and greater than 50% penetration of the left ventricular wall thickness by intertrabecular recesses.
As reported in our work,[1] the clinical presentation of LVNC varies from no symptoms to heart failure, embolism, arrhythmia, mitral insufficiency, conduction disorders and sudden death. We absolutely agree that ventricular arrhythmias may be the cause of sudden death; however, the fetus never presented anomalies of frequency arrhythmias. He was born alive and died after a few days due to heart failure.
We do agree that LVHT can be congenital or acquired. 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.
Ultrasound technical improvements with the development of new tools for the evaluation of the systolic and diastolic fetal function and advances in fetal cardiology will allow a risk stratification with a better evaluation of the prognosis of newborns with congenital heart disease and new and promising therapies for fetuses with cardiovascular disease.[3]
