Perivascular Basal Echogenicity in the Fetal Heart: An Unconventional Marker of Maternal Autoimmune Antibodies.

Fetal congenital heart block is a widely recognized complication of pregnancies with anti Ro/La antibodies. Less common presentations, including dilated cardiomyopathy, myocarditis, valvular insufficiency, and endocardial fibroelastosis, have also been described in these fetuses. We present two cases where recognition of isolated basal echogenicity of the fetal heart, an unconventional manifestation of anti-SSA antibodies during pregnancy, led to a suspicion and ultimately diagnosis of antibody positivity in the mother. These cases highlight the importance of being aware of this rare manifestation of anti-SSA antibodies during pregnancy, as early recognition of antibody positivity may lead to improve fetal and maternal outcomes.

Myocardial Infarction in Neonates: A Review of an Entity with Significant Morbidity and Mortality.

Coronary artery disease is a global problem with high mortality rates and significant residual sequelae that affect long-term quality of life. Myocardial infarction (MI) in neonates is a recognized, uncommon entity, but the incidence and broad spectrum of the disease is unknown and likely underestimated due to limited reporting which in the majority is confined to acute ischemic events. The challenges involve clinical diagnosis which masquerades in the early phase as non-specific symptoms and signs that are commonly found in a host of neonatal disorders. Precise diagnostic criteria for neonatal MI are lacking, and management is driven by clinical presentation and hemodynamic stabilization rather than an attempt to rapidly establish the root cause of the condition. We conducted a review of the published reports of neonatal MI from 2000 to 2014, to establish an approach to the diagnosis and management based on the existing evidence. The overall evidence from 32 scientific articles stemmed from case reports and case series which were graded as low-to-very low quality. Neonatal MI resembles childhood and adult MI with features that involve characteristic ECG changes, raised biomarkers, and diagnostic imaging, but with lack of robust, standardized criteria to facilitate prompt diagnosis and timely intervention. The mortality rate of neonatal MI ranges from 40 to 50% based on inclusion criteria, but the short-term data reflect normal quality of life in survivors. An algorithm for the diagnosis and management of neonatal MI may optimize outcomes, but at the present time is based on limited evidence. Well-designed clinical studies focusing on the definition, diagnosis, and management of neonatal MI, backed by international consensus guidelines, are needed to alter the prognosis of this serious condition.

Fanconi Syndrome Secondary to Deferasirox in Diamond-Blackfan Anemia: Case Series and Recommendations for Early Diagnosis.

Deferasirox is an oral iron chelator used to treat patients with transfusion-related iron overload. We report, from two institutions, two children with Diamond-Blackfan anemia who developed Fanconi syndrome secondary to deferasirox administration, along with a review of the literature. The current recommendation for the laboratory monitoring of patients receiving deferasirox does not include serum electrolytes or urine analysis. Thus, despite routine clinic visits and bloodwork, these two patients presented with life-threatening electrolyte abnormalities requiring hospitalization. Hence, we propose the inclusion of serum electrolytes and urine analysis as part of routine monitoring to facilitate the early diagnosis of Fanconi syndrome in the context of high doses of deferasirox therapy.

Prenatal Diagnosis of Vascular Ring: Evaluation of Fetal Diagnosis and Postnatal Outcomes.

BACKGROUND: The impact of fetal echocardiography on the diagnosis and outcomes of vascular ring has not been well examined. We hypothesized that prenatal detection of vascular ring has improved over time and that prenatal diagnosis of vascular ring is associated with earlier intervention and favorable outcomes. METHODS: This is a single-center, retrospective study of the evolution and outcomes of prenatal diagnosis of vascular ring from 2000 to 2020. We compared clinical presentation, timing of surgical intervention, and outcomes between the prenatally and postnatally diagnosed cases during the same study period. RESULTS: A total of 170 patients were included: 50 with prenatal and 120 with postnatal diagnosis of vascular ring. Prenatal diagnoses included 42 patients (84%) with right aortic arch (RAA), aberrant left subclavian artery (ALSCA), and a left-sided ductus arteriosus and eight (16%) patients with double aortic arch (DAA). The postnatal cohort consisted mainly of 90 patients (75%) with DAA and 22 (18%) with RAA-ALSCA. None of the postnatally diagnosed cases had undergone a fetal echocardiogram. Numbers (percentage) of prenatally diagnosed cases of vascular ring compared with the postnatal cases improved from 4/31 (13%), to 10/29 (34%), to 14/25 (56%), and to 22/35 (69%), respectively, during 2000-2005, 2005-10, 2010-15, and 2015-20 (P = .032). Vascular ring was an isolated abnormality in 84% and 85% of the prenatal and postnatal cohorts, respectively. Compared with the prenatal cohort, postnatally diagnosed patients with an isolated vascular ring were more frequently symptomatic (66% vs 48%, P < .03) and underwent cross-sectional imaging (69% vs 44%, P = .009) and surgery more frequently (79% vs 48%, P = .003). Surgery was performed at a later patient age (18 [2-147] months vs 4.8 [0.5-42] months, P = .01) and was more often associated with residual symptoms (27/81 [33%] vs 1/20 [5%], P = .01) in the postnatal cohort than in the prenatal cohort. CONCLUSIONS: The diagnosis of vascular ring by fetal echocardiography has improved over time. A significantly higher incidence of RAA-ALSCA in the prenatal compared with the postnatal cohort suggests that patients with this form of vascular ring often do not present to medical attention with significant symptoms postnatally. Prenatal diagnosis of vascular ring was associated with a lower incidence of symptoms, less frequent use of cross-sectional imaging, earlier age at surgical intervention, and lower likelihood of residual symptoms.

Trajectory of Left Ventricular Remodeling in Children With Valvar Aortic Stenosis Following Balloon Aortic Valvuloplasty.

BACKGROUND: Aortic valve stenosis is the most common type of congenital left ventricular (LV) outflow tract obstruction. Balloon aortic valvuloplasty (BAV) has become the first-line treatment pathway in many centers. Our aim was to assess the trajectory of LV remodeling following BAV in children and its relationship to residual aortic stenosis (AS) and insufficiency (AI). METHODS: Children <18 years of age who underwent BAV for isolated aortic stenosis from 2004 to 2012 were eligible for inclusion. Those with AI before BAV, other complex congenital heart lesions, or <2 accessible follow-up echocardiograms were excluded. Baseline and serial echocardiographic data pertaining to aortic valve and LV size and function were retrospectively collected through December 2017 or the first reintervention. Longitudinal data was assessed using per-patient time profiles with superimposed trend lines using locally estimated scatterplot smoothing. Associations with reintervention or death were also evaluated. RESULTS: Among the 98 enrolled children, the median (interquartile range) age at BAV was 2.8 months (0.2-75). The median (interquartile range) follow-up was 6.8 years (1.9-9.0). Children with predominantly residual AI (n=11) demonstrated progressive increases in their LV end-diastolic dimension Z score within the first 3 years after the BAV, followed by a plateau (P<0.001). Their mean LV circumferential and longitudinal strain values remained within the normal range but lower than in the non-AI group (P<0.001 and P=0.001, respectively). Children with predominantly residual aortic stenosis (n=44) had no changes in LV dimensions but had a rapid early increase in mean LV circumferential and longitudinal strain. The cumulative proportion (95% CI) of reintervention at 5 years following BAV was 33.7% (23.6%-42.4%). CONCLUSIONS: Our study demonstrates that LV remodeling occurs mainly during the first 3 years in children with predominantly residual AI after BAV, with no subsequent significant functional changes over the medium term. These data improve our understanding of expected patient trajectories and thus may inform decisions on the timing of reintervention.

Low descending aorta flow is associated with adverse feeding outcomes in neonates with small left-sided structures.

Feeding intolerance and necrotizing enterocolitis (NEC) cause significant morbidity in neonates with duct-dependent systemic circulations. Whether these complications are associated with low blood flow to the bowel is unproven. The aim of this study was to determine whether low descending aortic (DAO) flow is associated with adverse feeding outcomes in neonates with small left-sided structures, including borderline left ventricle and hypoplastic left heart syndrome (HLHS). The cardiac magnetic resonance (CMR) imaging studies and abdominal Doppler ultrasound profiles prior to any cardiac interventions in neonates with small left-sided structures were analyzed. Descending aortic flows, indexed to body surface area, were collected. Medical charts were reviewed for a composite outcome of feeding intolerance and/or NEC. Among the 51 enrolled study patients (mean age 4.6, SD 4.5 days), 13 experienced the composite outcome (feeding intolerance in 13, NEC in 2). The mean DAO flow in patients who experienced the composite outcome was 0.89 L/min/m2 (SD 0.33 L/min/m2), compared to 1.23 L/min/m2 (SD 0.41 L/min/m2) in those that did not (p = 0.007). A DAO flow of 0.91 L/min/m2 identified patients who experienced feeding intolerance or NEC with a sensitivity of 61% and a specificity of 76%. Doppler ultrasound metrics of DAO flow did not correlate with DAO flow or predict adverse feeding outcomes. Low DAO flow is associated with adverse outcomes, including feeding intolerance and NEC, in neonates with small left-sided structures. Heightened clinical vigilance towards feeding complications in patients with low DAO flow is recommended.

Anticonvulsant-induced rickets and nephrocalcinosis.

Reported here is the case of a severely disabled young girl who developed Fanconi syndrome secondary to long-term valproic acid administration, ultimately leading to hypophosphatemic rickets. Although nephrocalcinosis is not a common feature in patients with proximal tubulopathy, the patient presented also with this condition, and the concomitant use of another anticonvulsant might have potentiated this condition. The purpose of this report is to increase awareness among healthcare providers of such rare but significant complications associated with anticonvulsants.