Department of Pediatrics, Faculty of Medicine, University of Toyama, Toyama 930-0194, Japan.
Legal Medicine, Faculty of Medicine, University of Toyama, Toyama 930-0194, Japan.
Genes (Basel). 2024 Mar 20;15(3):381. doi: 10.3390/genes15030381.
Left ventricular hypertrophy (LVH) is a well-recognized cardiac dysfunction in infants of mothers with gestational diabetes mellitus (GDM). Left ventricular noncompaction (LVNC) is a cardiomyopathy that is morphologically characterized by numerous prominent trabeculations and deep intertrabecular recesses on cardiovascular imaging. However, there have been no case reports on neonates of mothers with GDM showing LVH and LVNC.
A patient, with LVH of a mother with GDM, was delivered at 36 weeks of gestation. Prominent trabeculations in the LV, suggesting LVNC, instead of LVH, were apparent 1 week after birth. A heterozygous deletion variant in the gene (NM_000257.4: c.1090T>C, p.Phe364Leu) was discovered through genetic testing using a cardiomyopathy-associated gene panel in the patient and his father and the older brother who had LVNC. The patient is now 5 years old and does not have major cardiac events, although LVNC persisted. This is the first case of LVH secondary to a mother with GDM and LVNC with a novel variant in the gene.
Genetic testing should be conducted to obtain an accurate outcome and medical care in a patient with LVH and subsequently prominent hypertrabeculation in the LV.
左心室肥厚（LVH）是母亲患有妊娠糖尿病（GDM）的婴儿中一种公认的心脏功能障碍。左心室致密化不全（LVNC）是一种心肌病，在心血管成像上表现为大量突出的心肌小梁和深小梁间隐窝。然而，尚未有关于母亲患有 GDM 的新生儿表现出 LVH 和 LVNC 的病例报告。
一名患者的母亲患有 GDM，在 36 周时分娩。出生后 1 周，LV 出现明显的心肌小梁，提示 LVNC，而不是 LVH。通过对患者及其父亲和患有 LVNC 的哥哥进行心肌病相关基因面板的基因检测，发现了一个在 基因中的杂合缺失变异（NM_000257.4：c.1090T>C，p.Phe364Leu）。
患者现在 5 岁，虽然 LVNC 仍然存在，但没有重大心脏事件。这是首例由母亲患有 GDM 引起的 LVH 继发 LVNC，并伴有 基因中的新型变异。
对于 LVH 并随后出现 LV 明显心肌肥厚的患者，应进行基因检测以获得准确的结果和医疗护理。
