RESUMEN
Background: Goldenhar Syndrome is a rare congenital condition, typically characterized by craniofacial abnormalities and vertebral malformations. Due to its rare and complex nature, the etiology is unconfirmed, resulting in parental uncertainty and subsequent emotional sequelae. Clinical manifestations have been researched but few studies have explored parental wellbeing and Quality of Life (QoL). In this qualitative study, we explore parental views of the challenges and lived experience of raising a child with Goldenhar Syndrome. Methods: Ten biological parents (five mothers and five fathers), recruited at the Goldenhar UK Conference, took part in audio-recorded, semi-structured interviews. Interviews explored emotional wellbeing, views surrounding causation, support accessed, challenges faced, experience of stigma and future outlooks. Reflexive thematic analysis was employed, and transcripts were subject to deductive and inductive coding. Results: Seven themes were identified: support networks (Goldenhar UK), rollercoaster of emotion; gendered coping; uncertainty; societal reactions; coping with challenge and acceptance. Conclusions: This is the first-time the life perspectives of parents, raising a child with Goldenhar Syndrome, have been explored via interviews. We have unearthed prominent issues that impact parental QoL including isolation and distress at the point of diagnosis, and throughout the multidisciplinary health journey. We have also established significant indicators of the ongoing QoL challenges faced by young people with Goldenhar Syndrome. Future work is underway exploring these issues further with teenagers, young people and adults with Goldenhar to develop a conceptual framework of their QoL. This will be used to develop a bespoke patient reported outcome (PRO) to give voice to the challenges children and young adults face during their medical journey.
RESUMEN
BACKGROUND AND AIM: A recent study using an epicardial-only electrocardiographic imaging (ECGI), suggests that the agreement of ECGI activation mapping and that of the contact mapping for ventricular arrhythmias (VA) is poor. The aim of this study was to assess the diagnostic value of two endo-epicardial ECGI systems using different cardiac sources and the agreement between them. METHODS: We performed 69 ECGI procedures in 52 patients referred for ablation of VA at our center. One system based on the extracellular potentials was used in 26 patients, the other based on the equivalent double layer model in 9, and both in 17 patients. The first uses up to 224 leads and the second just the 12lead ECG. The localization of the VA was done using a segmental model of the ventricles. A perfect match (PM) was defined as a predicted location within the same anatomic segment, whereas a near match (NM) as a predicted location within the same segment or a contiguous one. RESULTS: 44 patients underwent ablation, corresponding to 58 ECGI procedures (37 with the first and 21 with the second system). The percentage of PMs and NMs was not significantly different between the two systems, respectively 76% and 95%, p = 0.077, and 97% and 100%, p = 1.000. In 14 patients that underwent ablation and had the ECGI performed with both systems, raw agreement for PMs was 79%, p = 0.250 for disagreement. CONCLUSIONS: ECGI systems were useful to identify the origin of the VAs, and the results were reproducible regardless the cardiac source.