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PURPOSE: TANGO2 deficiency disorder (TDD), an autosomal recessive disease first reported in 2016, is characterized by neurodevelopmental delay, seizures, intermittent ataxia, hypothyroidism, and life-threatening metabolic and cardiac crises. The purpose of this study was to define the natural history of TDD. METHODS: Data were collected from an ongoing natural history study of patients with TDD enrolled between February 2019 and May 2022. Data were obtained through phone or video based parent interviews and medical record review. RESULTS: Data were collected from 73 patients (59% male) from 57 unrelated families living in 16 different countries. The median age of participants at the time of data collection was 9.0 years (interquartile range = 5.3-15.9 years, range = fetal to 31.8 years). A total of 24 different TANGO2 alleles were observed. Patients showed normal development in early infancy, with progressive delay in developmental milestones thereafter. Symptoms included ataxia, dystonia, and speech difficulties, typically starting between the ages of 1 to 3 years. A total of 46/71 (65%) patients suffered metabolic crises, and of those, 30 (65%) developed cardiac crises. Metabolic crises were significantly decreased after the initiation of B-complex or multivitamin supplementation. CONCLUSION: We provide the most comprehensive review of natural history of TDD and important observational data suggesting that B-complex or multivitamins may prevent metabolic crises.
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Ataxia , Convulsiones , Adolescente , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Embarazo , Atención PrenatalRESUMEN
BACKGROUND: Interventional cardiac catheterization (cath) and electrophysiology (EP) procedures are not routinely performed together. There are several perceived barriers affecting this practice, though there are also advantages for both the patient and practitioner to a combined approach. METHODS: This was a single-center retrospective study reviewing combined cath and EP procedures with a preprocedural intention to intervene at Texas Children's Hospital from 2001 to 2014. We excluded procedures in which the intended procedure was purely diagnostic in nature. RESULTS: A total of 121 patients requiring 125 procedures were identified, of which 61 patients underwent 62 procedures that met our inclusion criteria. Potential subgroups of interest included adult congenital heart disease patients (26% of cohort), single ventricle anatomy (34%), and heterotaxy (19%) and collectively 58% of procedures involved a patient in one of these groups. The combined nature of the procedure did not preclude a cath or EP intervention in any patient. There were no mortalities. There were three adverse events, affecting 4.8% of procedures. CONCLUSIONS: Combined interventional cardiac cath and EP procedures in pediatric patients and those with congenital heart disease can be performed safely in a high-volume center. These combined procedures save patients the risk and inconvenience of multiple procedures, and further investigation into cost savings is warranted.
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Ablación por Catéter/mortalidad , Técnicas Electrofisiológicas Cardíacas/mortalidad , Técnicas Electrofisiológicas Cardíacas/estadística & datos numéricos , Cardiopatías Congénitas/mortalidad , Cardiopatías Congénitas/cirugía , Complicaciones Posoperatorias/mortalidad , Adolescente , Adulto , Cateterismo Cardíaco , Ablación por Catéter/estadística & datos numéricos , Niño , Preescolar , Femenino , Cardiopatías Congénitas/diagnóstico , Hospitales Pediátricos , Humanos , Incidencia , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Seguridad del Paciente , Complicaciones Posoperatorias/prevención & control , Factores de Riesgo , Tasa de Supervivencia , Texas/epidemiología , Adulto JovenRESUMEN
INTRODUCTION: Three-dimensional mapping (3-D) systems are frequently used for ablation of supraventricular tachycardia. Prior studies have demonstrated radiation dosage reduction with 3-D, but there are no data on whether 3-D improves the efficacy of ablation of Wolff-Parkinson-White syndrome (WPW). We sought to determine if 3-D improves the success rate for ablation of WPW in children. METHODS: Multicenter retrospective study including patients ≤21 years of age with WPW undergoing ablation from 2008 to 2012. Success rates using the 2 techniques (3-D vs. fluoroscopy alone [FLUORO]) were compared. RESULTS: Six hundred and fifty-one cases were included (58% male, mean age 13 ± 4 years, 366 [56%] 3-D). Baseline characteristics including gender, weight, accessory pathway (AP) location, number of APs, and repeat ablation attempts were similar between the 2 groups (3-D and FLUORO) The 3-D group was slightly younger (12.7 ± 4.0 vs. 13.3 ± 4.0 years; P = 0.04) and less likely to undergo ablation utilizing cryoenergy (38 [10%] vs. 56 [20%]; P < 0.01). The 3-D group had a higher acute success rate of ablation (355 [97%] vs. 260 [91%]; P < 0.01). No differences were seen in recurrence (16 [5%] vs. 26 [9%]; P = 0.09) or complication rates (1 [0.3%] vs. 1 [0.4%]; P = 0.86) between the groups. On multivariable analysis, 3-D was shown to significantly improve success at ablation with an odds ratio of 3.1 (95% CI 1.44-6.72; P < 0.01). CONCLUSIONS: Use of 3-D significantly improved success rates for ablation of WPW in children. The increase in acute success associated with 3-D suggests it is an important adjunct for catheter ablation of WPW in children.
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Ablación por Catéter/métodos , Técnicas Electrofisiológicas Cardíacas , Sistema de Conducción Cardíaco/cirugía , Radiografía Intervencional/métodos , Síndrome de Wolff-Parkinson-White/cirugía , Potenciales de Acción , Adolescente , Factores de Edad , Ablación por Catéter/efectos adversos , Distribución de Chi-Cuadrado , Niño , Electrocardiografía , Femenino , Fluoroscopía , Sistema de Conducción Cardíaco/fisiopatología , Humanos , Modelos Logísticos , Masculino , Análisis Multivariante , Oportunidad Relativa , Valor Predictivo de las Pruebas , Dosis de Radiación , Recurrencia , Estudios Retrospectivos , Factores de Riesgo , Resultado del Tratamiento , Estados Unidos , Síndrome de Wolff-Parkinson-White/diagnóstico , Síndrome de Wolff-Parkinson-White/fisiopatología , Adulto JovenRESUMEN
CASE (DESCRIPTION): A 27 year old female with a complex history of congenital heart disease, cardiac surgery, heart failure, and arrhythmias was admitted for a Pseudomonas aeruginosa sternal wound infection and treated with intravenous antibiotics. After discharge and completion of an outpatient course of intravenous antibiotics, suppressive antibiotic therapy with ciprofloxacin was initiated. She presented to clinic with nausea and anorexia within a few days of addition of ciprofloxacin to her current regimen of medications, which included digoxin. The digoxin was discontinued, with all other medications remaining the same, and the symptoms resolved in 48 h. The dose of digoxin was restarted at 50 % of the previous dose with no further complications. The proposed cause of the nausea and anorexia was digoxin toxicity secondary to a drug-drug interaction with ciprofloxacin. CONCLUSION: Patients receiving ciprofloxacin and digoxin should be monitored closely for the risk of digoxin toxicity.