Dataset Information

A Novel NKX2-5 Variant in a Child with Left Ventricular Noncompaction, Atrial Septal Defect, Atrioventricular Conduction Disorder, and Syncope.

ABSTRACT: The NKX2-5 gene encodes a transcription factor and is actively involved in heart formation and development. A pediatric case with its variant and left ventricular noncompaction (LVNC) has not been reported. A 12-year-old girl with a history of a surgery for atrial septal detect was referred because of syncope during exercise. The electrocardiogram showed atrioventricular block, and the echocardiogram revealed prominent trabeculations in the left ventricular wall, suggesting LVNC. A novel heterozygous variant in the NKX2-5 gene (NM_004387.1: c.255_256delCT, p.Phe86fs) was identified. NKX2-5 variants should be considered in cases with LVNC, congenital heart disease, arrhythmia, and syncope to prevent sudden cardiac death.

SUBMITTER: Yamada Y

PROVIDER: S-EPMC9181799 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature

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A Novel <i>NKX2-5</i> Variant in a Child with Left Ventricular Noncompaction, Atrial Septal Defect, Atrioventricular Conduction Disorder, and Syncope.

Yamada Yuya Y Yasuda Kazushi K Hata Yukiko Y Nishida Naoki N Hirono Keiichi K

Journal of clinical medicine 20220602 11

The <i>NKX2-5</i> gene encodes a transcription factor and is actively involved in heart formation and development. A pediatric case with its variant and left ventricular noncompaction (LVNC) has not been reported. A 12-year-old girl with a history of a surgery for atrial septal detect was referred because of syncope during exercise. The electrocardiogram showed atrioventricular block, and the echocardiogram revealed prominent trabeculations in the left ventricular wall, suggesting LVNC. A novel ...[more]

PMID: 35683556

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Project description:ObjectiveAlthough a narrow left ventricular outflow tract in atrioventricular septal defect is related to its intrinsic morphology, the contribution from the repair technique remains to be quantified.MethodsA total of 108 patients with an atrioventricular septal defect with a common atrioventricular valve orifice were divided into 2 groups: 2-patch (N = 67) and modified 1-patch (N = 41) repair. The left ventricular outflow tract morphometric was analyzed by quantifying the degree of disproportion between subaortic and aortic annular dimensions (disproportionate morphometrics ratio was defined as ≤ 0.9). Z-scores (median, interquartile range) were further analyzed in a subset of 80 patients with immediate preoperative and postoperative echocardiography. A total of 44 subjects with ventricular septal defects served as controls.ResultsBefore repair, 13 patients (12%) with an atrioventricular septal defect had disproportionate morphometrics (vs 6 [14%] ventricular septal defect P = .79), but the subaortic Z-score (-0.53, -1.07 to 0.06) was lower than the ventricular septal defect (0.07, -0.57 to 1.17; P < .001). After repair, both 2-patch (8 [12%] preoperatively vs 25 [37%] postoperatively; P = .001) and modified 1-patch (5 [12%] vs 21 [51%], P < .001) procedures showed a greater degree of disproportionate morphometrics. Both 2-patch (postoperatively -0.73, -1.56 to 0.08 vs preoperatively -0.43, -0.98 to 0.28; P = .011) and modified 1-patch (-1.42, -2.63 to -0.78 vs -0.70, -1.18 to -0.25; P = .001) procedures also demonstrated lower subaortic Z-scores postrepair. The postrepair subaortic Z-scores were lower in the modified 1-patch group (-1.42 [-2.63 to -0.78]) compared with the 2-patch group (-0.73 [-1.56 to 0.08]; P = .004). Low postrepair subaortic Z-scores (<-2) were observed in 12 patients (41%) in the modified 1-patch group and 6 patients (12%) in the 2-patch group (P = .004).ConclusionsSurgical correction resulted in greater disproportionate morphometrics seen immediately postrepair. The impact on the left ventricular outflow tract was observed in all repair techniques, with a greater burden seen after modified 1-patch repair.Video abstractThis morphometric study in AVSD with common atrio-ventricular valve orifice confirmed further derangements of LV outflow tract morphometrics immediately after surgical repair.

Project description:BackgroundLeft atrioventricular valve (LAVV) stenosis following an atrioventricular septal defect (AVSD) repair is a rare but potentially life-threatening complication. While echocardiographic quantification of diastolic transvalvular pressure gradients is paramount in the evaluation of a newly corrected valve function, it is hypothesized that these measured gradients are overestimated immediately following a cardiopulmonary bypass (CPB) due to the altered hemodynamics when compared to postoperative valve assessments using awake transthoracic echocardiography (TTE) upon recovery after surgery.MethodsOut of the 72 patients screened for inclusion at a tertiary center, 39 patients undergoing an AVSD repair with both intraoperative transesophageal echocardiograms (TEE, performed immediately after a CPB) and an awake TTE (performed prior to hospital discharge) were retrospectively selected. The mean (MPGs) and peak pressure gradients (PPGs) were quantified using a Doppler echocardiography and other measures of interest were recorded (e.g., a non-invasive surrogate of the cardiac output and index (CI), left ventricular ejection fraction, blood pressures and airway pressures). The variables were analyzed using the paired Student's t-tests and Spearman's correlation coefficients.ResultsThe MPGs were significantly higher in the intraoperative measurements when compared to the awake TTE (3.0 ± 1.2 vs. 2.3 ± 1.1 mmHg; p < 0.01); however, the PPGs did not significantly differ (6.6 ± 2.7 vs. 5.7 ± 2.8 mmHg; p = 0.06). Although the assessed intraoperative heart rates (HRs) were also higher (132 ± 17 vs. 114 ± 21 bpm; p < 0.001), there was no correlation found between the MPG and the HR, or any other parameter of interest, at either time-point. In a further analysis, a moderate to strong correlation was observed in the linear relationship between the CI and the MPG (r = 0.60; p < 0.001). During the in-hospital follow-up period, no patients died or required an intervention due to LAVV stenosis.ConclusionsThe Doppler-based quantification of diastolic transvalvular LAVV mean pressure gradients using intraoperative transesophageal echocardiography seems to be prone to overestimation due to altered hemodynamics immediately after an AVSD repair. Thus, the current hemodynamic state should be taken into consideration during the intraoperative interpretation of these gradients.

Dataset Information

A Novel NKX2-5 Variant in a Child with Left Ventricular Noncompaction, Atrial Septal Defect, Atrioventricular Conduction Disorder, and Syncope.

Publications

A Novel <i>NKX2-5</i> Variant in a Child with Left Ventricular Noncompaction, Atrial Septal Defect, Atrioventricular Conduction Disorder, and Syncope.

Similar Datasets

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