Fetal diagnosis of KCNQ1‐variant long QT syndrome using fetal echocardiography and magnetocardiography

Desai, Lajja; Wakai, Ronald T.; Tsao, Sabrina; Strasburger, Janette F.; Gotteiner, Nina L.; Patel, Angira

doi:10.1111/pace.13900

Cited by 9 publications

(3 citation statements)

References 10 publications

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“…Therefore, we highly suspected that the fetus had NCCM combined with LQTS. Fetal magnetocardiography is currently the most consistent and reliable technique for diagnosis of LQTS because it can provide a fetal electrocardiographic-like signal to definitively demonstrate QTc prolongation ( 19 ). However, because this advanced device was unavailable in the present case, we were unable to prove the presence of QTc prolongation using prenatal echocardiography.…”

Section: Discussionmentioning

confidence: 99%

Case report: Prenatal diagnosis of fetal non-compaction cardiomyopathy with bradycardia accompanied by de novo CALM2 mutation

et al. 2022

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We herein report what appears to be the first case of fetal non-compaction cardiomyopathy in both ventricles accompanied by a mutation in the calmodulin gene (CALM2). A 25-year-old woman was referred to our hospital at 25+1 weeks of gestation for evaluation of fetal defects. Prenatal echocardiography showed biventricular non-compaction cardiomyopathy with sinus bradycardia. After termination of the pregnancy, fetal biventricular non-compaction cardiomyopathy was confirmed by autopsy and histopathologic examination. Additionally, whole-exome sequencing of genomic DNA demonstrated a de novo heterozygous mutation (c.389A > G; p.D130G) in CALM2, whereas the parents were normal. In this case report, we highlight the importance of prenatal ultrasound and genetic testing in fetal non-compaction cardiomyopathy with arrhythmia.

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Section: Discussionmentioning

confidence: 99%

Case report: Prenatal diagnosis of fetal non-compaction cardiomyopathy with bradycardia accompanied by de novo CALM2 mutation

et al. 2022

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“…Fetal cardiac axis is one of the components examined in echocardiography.The measurement of the fetal cardiac axis is relatively simple and easily obtainable, and it is a non-invasive and radiation-free procedure that allows for repeated operations ( 17 , 19 ). Through the real-time dynamic observation of the fetal heart, echocardiography can clearly show the structure and function of the fetal heart, providing an important basis for clinical diagnosis.…”

Section: Discussionmentioning

confidence: 99%

Relationship between diagnosis of conus arteriosus malformation and genetic diagnosis results in fetal cardiac axis abnormalities by echocardiography during middle pregnancy

Yang,

Cai,

Chen

et al. 2024

Front. Cardiovasc. Med.

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ObjectiveTo explore the clinical value of echocardiography in detecting fetal cardiac axis abnormalities during middle pregnancy for diagnosing conus arteriosus malformation, and to compare and analyze the genetic diagnosis results, in order to provide evidence for clinical diagnosis and intervention.MethodsFour hundred twenty-one fetuses with conus arteriosus malformation from January 2020 to October 2023 were included as the conus arteriosus malformation group, and 917 healthy fetuses (all single fetuses) matched at the same gestational age were selected as the healthy group.ResultsThere was no significant difference in gestational weeks between two groups (P > 0.05). The age of pregnant women in conus arteriosus malformation group was lower compared to healthy group (P < 0.05), and the fetal cardiac axis in conus arteriosus malformation group was significantly higher compared to healthy group (P < 0.05). Among the fetuses with conus arteriosus malformation, tetralogy of Fallot (TOF), transposition of the great arteries (TGA) and double outlet right ventricle (DORV) had the highest proportions, accounting for 38.00%, 18.29% and 17.58%, respectively. Among all types of conus arteriosus malformations, atresia pulmonary valve syndrome associated with TOF, persistent truncus arteriosus and DORV exhibited higher proportions of fetal cardiac axis abnormalities, at 75.00%, 36.84% and 27.03%, respectively, while TGA and interrupted aortic arch associated with B-type interruption had lower proportions of fetal cardiac axis abnormalities, at 2.60% and 4.55%, respectively. Genetic testing was conducted on 73 cases (17.34%) of fetuses with conus arteriosus malformation in this study. Among them, fetal cardiac axis abnormalities were considered positive for genetic results due to factors such as aneuploidy, copy number abnormalities, and single-gene pathogenicity. A total of 31 cases tested positive for genetic anomalies, with a positive rate of approximately 42.47%.ConclusionIn the middle pregnancy, the fetal cardiac axis in cases of conus arteriosus malformation was significantly higher than in normal fetuses. Moreover, there were variations in fetal cardiac axis among different types of conus arteriosus malformations, and these differences were notably associated with genetic diagnostic results.

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“…While clinical studies, which was carried out in specialized centers with shielded and unshielded SQUID-based MCG systems, enhanced the evidence for MCG 3D electroanatomical localization accuracy and for risk assessment of arrhythmogenic mechanisms/substrates (82, 83, 90, 226, 245-251), a renewed interest for biomagnetic sensor technology has raised again not only at the academic but also at the industrial level (252,253). In fact, apart from the traditionally available multichannel cryogenic MCG systems working in MSRs (246,(254)(255)(256)(257)(258)(259) and a more downscaled price for sequential unshielded MCG mapping (77, 256-259), three younger companies have manufactured innovative multichannel MCG devices, based on different sensor technologies, all of them specifically designed for clinical application at minimized running costs and with optimized operational simplicity. All of them have gathered regulatory clearance for the recording of human cardiac magnetic fields.…”

Section: Unshielded Mcg: the Presentmentioning

confidence: 99%

Clinical magnetocardiography: the unshielded bet—past, present, and future

Brisinda,

Fenici,

Fenici

2023

Front. Cardiovasc. Med.

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Magnetocardiography (MCG), which is nowadays 60 years old, has not yet been fully accepted as a clinical tool. Nevertheless, a large body of research and several clinical trials have demonstrated its reliability in providing additional diagnostic electrophysiological information if compared with conventional non-invasive electrocardiographic methods. Since the beginning, one major objective difficulty has been the need to clean the weak cardiac magnetic signals from the much higher environmental noise, especially that of urban and hospital environments. The obvious solution to record the magnetocardiogram in highly performant magnetically shielded rooms has provided the ideal setup for decades of research demonstrating the diagnostic potential of this technology. However, only a few clinical institutions have had the resources to install and run routinely such highly expensive and technically demanding systems. Therefore, increasing attempts have been made to develop cheaper alternatives to improve the magnetic signal-to-noise ratio allowing MCG in unshielded hospital environments. In this article, the most relevant milestones in the MCG's journey are reviewed, addressing the possible reasons beyond the currently long-lasting difficulty to reach a clinical breakthrough and leveraging the authors’ personal experience since the early 1980s attempting to finally bring MCG to the patient's bedside for many years thus far. Their nearly four decades of foundational experimental and clinical research between shielded and unshielded solutions are summarized and referenced, following the original vision that MCG had to be intended as an unrivaled method for contactless assessment of the cardiac electrophysiology and as an advanced method for non-invasive electroanatomical imaging, through multimodal integration with other non-fluoroscopic imaging techniques. Whereas all the above accounts for the past, with the available innovative sensors and more affordable active shielding technologies, the present demonstrates that several novel systems have been developed and tested in multicenter clinical trials adopting both shielded and unshielded MCG built-in hospital environments. The future of MCG will mostly be dependent on the results from the ongoing progress in novel sensor technology, which is relatively soon foreseen to provide multiple alternatives for the construction of more compact, affordable, portable, and even wearable devices for unshielded MCG inside hospital environments and perhaps also for ambulatory patients.

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Fetal diagnosis of KCNQ1‐variant long QT syndrome using fetal echocardiography and magnetocardiography

Cited by 9 publications

References 10 publications

Case report: Prenatal diagnosis of fetal non-compaction cardiomyopathy with bradycardia accompanied by de novo CALM2 mutation

Case report: Prenatal diagnosis of fetal non-compaction cardiomyopathy with bradycardia accompanied by de novo CALM2 mutation

Relationship between diagnosis of conus arteriosus malformation and genetic diagnosis results in fetal cardiac axis abnormalities by echocardiography during middle pregnancy

Clinical magnetocardiography: the unshielded bet—past, present, and future

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