The mTOR pathway is important for neurodevelopment. The GATOR1 complex, composed of DEPDC5, NPRL2, and NPRL3, functions as a negative regulator of mTORC1 activity and pathogenic variants in the genes which comprise this complex cause focal epilepsy and malformation of cortical development, all named as GATORopathies. While focal cortical dysplasia is commonly reported, the full spectrum of associated neuroimaging findings remains incompletely defined. To characterize the neuroimaging features associated with GATOR1 complex mutations and to explore potential associations between imaging phenotypes and specific genotypes. MRI studies were retrospectively reviewed from January 2019 to December 2025 in patients with genetically confirmed GATOR1 mutations. Clinical, radiological, and genetic data were analyzed to identify imaging patterns and genotype–phenotype correlations. Twenty patients (median age : 6 years; range 1–25 years) were included. DEPDC5 mutations were most frequent (n = 12), followed by NPRL3 (n = 5) and NPRL2 (n = 3). MRI abnormalities were identified in 16 patients (80
BACKGROUND:Transcatheter aortic valve replacement (TAVR) in patients with prior mechanical mitral valve replacement (MVR) is technically challenging because of the altered aortomitral geometry and risk of prosthesis interaction. CASE SUMMARY:We report a single-center series of 5 patients with severe symptomatic rheumatic aortic stenosis and preexisting mechanical MVR who underwent transfemoral TAVR using balloon-expandable and self-expanding valves. Comprehensive preprocedural multidetector computed tomography was used to assess aortomitral distance and angle, annular dimensions, coronary heights, and mitral prosthesis characteristics to guide valve selection and implantation strategy. Procedures were performed under general anesthesia with transesophageal echocardiographic guidance in most cases. Procedural challenges included valve migration, transient mitral prosthesis interaction, and vascular access-related complications, all of which were successfully managed. No patient developed sustained mechanical mitral valve dysfunction, left ventricular outflow tract obstruction, or coronary compromise, and all patients demonstrated favorable short- and mid-term clinical outcomes. CONCLUSIONS:An anatomy-driven, imaging-guided approach enables safe and effective TAVR in select patients with mechanical MVR. TAKE-HOME MESSAGES:TAVR after mechanical MVR is feasible when guided by meticulous multimodality imaging and disciplined implantation strategy. Procedural success is determined primarily by aortomitral geometry and implantation technique rather than mitral prosthesis type alone.
Background Fukutinopathy is a rare autosomal recessive dystroglycanopathy caused by pathogenic FKTN variants. Cardiac-predominant presentations without overt neuromuscular manifestations are uncommon. Case Summary We report a 30-year-old Indian man with dilated cardiomyopathy, persistent QT prolongation, subepicardial late gadolinium enhancement on cardiac magnetic resonance imaging, and hyperCKemia. Whole-exome sequencing identified compound heterozygous FKTN variants: c.1112A > G (p.Tyr371Cys; likely pathogenic) and c.1224G > T (p.Lys408Asn; variant of uncertain significance). Parental Sanger sequencing confirmed trans inheritance. Genotype-directed evaluation subsequently revealed clinically silent skeletal myopathy. Guideline-directed medical therapy was initiated, and left ventricular systolic function remained stable at 6-month follow-up. Conclusions This case expands the cardiac spectrum of Fukutinopathy by demonstrating a cardiac-predominant phenotype with subclinical myopathy. Comprehensive genetic evaluation with segregation analysis should be considered in selected patients with unexplained nonischemic cardiomyopathy, even in the absence of overt neuromuscular features.
We present a case of combined balloon mitral valvuloplasty followed by transfemoral transcatheter aortic valve replacement in a high surgical-risk patient with rheumatic mitral and aortic stenosis. Careful anatomical assessment and procedural sequencing can enable safe transcatheter management in selected patients with rheumatic multivalvular disease.
We attempted to study the influence of pre-operative mitral regurgitation on the recovery of ventricular function in paediatric patients with repaired anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA). Eighty-eight patients under 18 years who underwent ALCAPA repair from 2003 to 2022 were included. Baseline clinical and echocardiographic data, including MR and left ventricular ejection fraction (LVEF), were recorded pre-operatively and at multiple post-operative follow-ups (discharge, 1 month, 6 months, 1 year, and annually thereafter). Friedman’s Test and correlation/regression analyses were used to assess the impact of pre-operative MR on ventricular function recovery. The median age at surgery was 6 months(range 1-197), and the median hospital stay was 17 days. 56.81
