Citations 2
Titin-related familial dilated cardiomyopathy: factors associated with disease onset
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European Heart Journal | July 18, 2025 | Volume: 46 | Issue: 48 | Pages: 5240-5257
Abstract Background and Aims Truncating variants in the TTN gene (TTNtv) are the most common genetic cause of dilated cardiomyopathy (DCM) but also occur as incidental findings in the general population. This study investigated factors associated with the clinical manifestation of TTNtv. Methods An international multicentre retrospective observational study was performed in families with TTNtv-related DCM. Shared frailty models were used to estimate associations of variant characteristics with lifetime risk of DCM, and logistic regression to estimate odds ratios (ORs) for individual-level clinical risk factor profiles (cardiac conditions, cardiovascular comorbidities, lifestyle) and DCM. Results A total of 3158 subjects in 1043 families with TTNtv-related DCM were studied. TTNtv-positive subjects were 21-fold more likely to develop DCM [OR, 21.21; 95% confidence interval (CI), 14.80–30.39]. Disease onset was earlier in males, but was similar for TTNtv of different types and locations. The presence of clinical risk factors was associated with earlier DCM onset (OR, 3.41; 95% CI, 2.06–5.64), with a prior history of atrial fibrillation having a two-fold increased odds of DCM (OR, 2.05; 95% CI, 1.27–3.32). The prevalence of clinical risk factors increased with age; however, the strength of the DCM association was greatest for young-onset (<30 years) disease (OR, 4.75; 95% CI, 2.35–9.60). Administration of beta-adrenergic receptor or renin-angiotensin system-blocking drugs prior to overt DCM was associated with 87% reduced odds of DCM (OR, .13; 95% CI, .08–.23). Conclusions Disease onset in TTNtv-associated familial DCM is dependent on individual patient context and is potentially modifiable by risk factor management and prophylactic therapeutic intervention.
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation
Shimada, Shino , Ng, Bobby G. , White, Amy , Nickander, Kim K., Turgeon, Coleman , Liedtke, Kristen, Lam, Christina , Font–Montgomery, Esperanza , Peck, Dawn , Uhles, Crescenda L , Haynes, Devon , Wheeler, Patricia G. , Bamshad, Michael J. , Nickerson, Deborah A. , Cushing, Tom, Gates, Ryan , Gomez‐Ospina, Natalia , Scalco, Fernanda B. , Martinez, Noelia Nunez, Sachdev, Rani , Malone, Stephen , Harris, Rebekah V. , Scheffer, Ingrid E. , Rosenzweig, Sergio D. , Adams, David R. , Gahl, William A. , Malicdan, May Christine V. , Raymond, Kimiyo , Wolfe, Lynne A. , Jarvik, Gail P. , White, Amy L , Liedtke, Kristen L, Peck, Dawn S, Harris, Rebekah V , Scheffer, Ingrid E , Malicdan, May Christine V , Raymond, Kimiyo M, Jarvik, Gail P , Ng, Bobby G , Lourenco, Charles , He, Miao , Umaña, Luis Alfredo , Byers, Heather M. , Smith, Lacey A. , Poduri, Annapurna , Freeze, Hudson H.
Journal of Medical Genetics | July 5, 2022 | Volume: 59 | Issue: 11 | Pages: 1104-1115
Purpose To summarise the clinical, molecular and biochemical phenotype of mannosyl-oligosaccharide glucosidase-related congenital disorders of glycosylation (MOGS-CDG), which presents with variable clinical manifestations, and to analyse which clinical biochemical assay consistently supports diagnosis in individuals with bi-allelic variants in MOGS. Methods Phenotypic characterisation was performed through an international and multicentre collaboration. Genetic testing was done by exome sequencing and targeted arrays. Biochemical assays on serum and urine were performed to delineate the biochemical signature of MOGS-CDG. Results Clinical phenotyping revealed heterogeneity in MOGS-CDG, including neurological, immunological and skeletal phenotypes. Bi-allelic variants in MOGS were identified in 12 individuals from 11 families. The severity in each organ system was variable, without definite genotype correlation. Urine oligosaccharide analysis was consistently abnormal for all affected probands, whereas other biochemical analyses such as serum transferrin analysis was not consistently abnormal. Conclusion The clinical phenotype of MOGS-CDG includes multisystemic involvement with variable severity. Molecular analysis, combined with biochemical testing, is important for diagnosis. In MOGS-CDG, urine oligosaccharide analysis via matrix-assisted laser desorption/ionisation time-of-flight mass spectrometry can be used as a reliable biochemical test for screening and confirmation of disease.