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1.
Mol Genet Metab Rep ; 38: 101027, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38077956

ABSTRACT

FLNC gene encodes for Filamin-C (FLNC) protein, a sacromeric protein with important structural and signaling functions in the myocyte. Pathogenic dominant variants in FLNC were initially linked to myofibrillar myopathy and over time, evidence showed association of this gene with different forms of autosomal dominant cardiomyopathy including hypertrophic, dilated and restrictive forms. Recently, two cases of recessive FLNC mutations have been reported by Reinstein et al. and Kölbel et al., one with only cardiomyopathy and other with only myopathy. In this report, we describe a third case, a boy who was diagnosed at 10 years of age with shortness of breath and dilated cardiomyopathy who on sequencing was found to have a novel homozygous splice site variant (NM_001458.4 c.2122-1G>C) in FLNC. This case suggests that the phenotype associated with variants in FLNC is very heterogenous and can be inherited in dominant or recessive forms, with later being more severe and of earlier onset.

2.
Ann Pediatr Cardiol ; 16(3): 182-188, 2023.
Article in English | MEDLINE | ID: mdl-37876947

ABSTRACT

Background: Repair of aortic coarctation through left thoracotomy is the standard treatment when anatomically feasible. Long-term outcomes are well studied, including the need for reintervention. However, the timely variation in residual gradients across the repaired segment is ill-defined. The aim of this work was to study the progressive changes of estimated peak gradient (ePG) acquired by transthoracic continuous-wave Doppler echocardiography across the aortic arch after repair and to assess the role of timing of assessment and values of ePG in prediction of reintervention. Materials and Methods: All eligible patients for this study who underwent aortic coarctation repair through left thoracotomy from 2001 to 2017 were reviewed. Details of the aortic arch dimensions and associated lesions were obtained by transthoracic echocardiography (TTE). The primary outcome was the ePG across the aortic arch after repair. Longitudinal data analyses with mixed effect modeling were used to determine independent predictors for ePGs. Results: A total of 312 patients were included. Median age and weight were 30 days and 4 kg, respectively. Associated lesions included ventricular septal defect (VSD) (53%), bicuspid aortic valve (53%) and mitral stenosis (25%). Over 15-years follow-up the freedom from reintervention was 92.3%, while 24 out of the 312 patients underwent reintervention (7.7%). Longitudinal data analyses of serial 2566 TTE studies were done. The graphical display showed that the ePG across coarctation area in the first postoperative TTE was the most notable difference between those who underwent reintervention and those who did not. Further testing with proportional hazard and logistic regression modeling confirmed this finding. The area under receiver operating curve statistics showed that an ePG of 25 mmHg is an optimal cutoff value for the prediction of the reintervention. Conclusions: The ePG acquired in the first postoperative TTE is the most important predictor for reinterventions. The presence of VSD is associated with decreased ePGs. We propose that an ePG in the first postoperative TTE of 25 mmHg or more is a strong predictor for the need of reintervention.

3.
Cardiol Young ; 32(7): 1169-1171, 2022 Jul.
Article in English | MEDLINE | ID: mdl-34906270

ABSTRACT

Non-steroidal anti-inflammatory drugs are the conventional treatment for pericarditis. However, some patients will still suffer from persistence pericardial effusion despite exhausting all conventional management options. A 4-year-old girl with idiopathic pericardial effusion who did not respond to 2 months of conventional therapy had complete resolution of effusion within 5 days, with no recurrence after administration of intrapericardial steroids. As far as we know, this is the first published paediatric case who has shown a similar outcome to that seen in adult studies.


Subject(s)
Pericardial Effusion , Pericarditis , Adrenal Cortex Hormones , Adult , Child , Child, Preschool , Female , Humans , Pericardial Effusion/drug therapy , Pericardial Effusion/etiology , Pericarditis/drug therapy
4.
Cardiol Young ; 31(10): 1633-1635, 2021 Oct.
Article in English | MEDLINE | ID: mdl-33685552

ABSTRACT

Bronchogenic cysts are considered rare airway anomalies that can have a significant impact on the well-being of infants. In this case report, we present a rare presentation of bronchogenic cyst presenting with early neonatal respiratory distress due to airway and vascular compression. Surgical excision was curative with an excellent prognosis.


Subject(s)
Bronchogenic Cyst , Respiratory Distress Syndrome, Newborn , Respiratory Distress Syndrome , Respiratory Insufficiency , Bronchogenic Cyst/diagnosis , Bronchogenic Cyst/diagnostic imaging , Dyspnea , Humans , Infant , Infant, Newborn , Respiratory Distress Syndrome, Newborn/diagnosis , Respiratory Distress Syndrome, Newborn/etiology
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