Salih myopathy in siblings of non-consanguineous parents
two rare cases
DOI:
https://doi.org/10.15448/1980-6108.2025.1.47378Keywords:
myopathies, muscle diseases, cardiomyopathies, muscle proteins, genetic diseases, DNA sequencingAbstract
Objectives: To describe and analyze two clinical cases of siblings born to non--consanguineous parents diagnosed with Salih myopathy, highlighting muscular and cardiac manifestations, and emphasizing the relevance of this report in expanding knowledge about this rare condition.
Case description: The patients are of school age and present with the typical progression of the disease, with marked muscle weakness and low-grade supraventricular extrasystoles. Clinical and radiological evaluation, complemented by genetic sequencing with a myopathy panel, confirmed titinopathy consistent with Salih myopathy. The diagnosis was based on genetic testing and DNA se quencing, using the transcript TTNNM_001267550.3. Variants were classified according to the criteria of the American College of Medical Genetics and Genomics and evaluated by in silico tools (PolyPhen-2, SIFT). Family segregation demonstrated that the father carries the variant TTN c.103360del (p.Glu34454Asnfs*3) in heterozygosity, while the mother does not present this variant, and the siblings have the variants on opposite chromosomes. The study was approved by the Ethics Committee (Approval nº 6.984.918), with consent from the guardians and assent from the children. It is noteworthy the importance of early investigation of cardiac rhythm alterations due to their impact on clinical progression and the need for specific interventions.
Conclusion: Salih myopathy is a rare syndrome characterized by progressive muscular manifestations since childhood and, in some cases, by cardiac involvement. Identification requires a high index of clinical suspicion and careful investigation with complementary methods. The cardiac alterations observed reinforce the need for continuous monitoring, including 24-hour Holter evaluation, early intervention, and appropriate titration of antiarrhythmics. The reporting of new cases contributes to improving diagnosis, guiding clinical management strategies, and strengthening the understanding of the phenotypic variability of this rare condition, providing support for safer and more effective clinical follow-up.
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Copyright (c) 2025 Larissa Roberta Negrão, Felipe Brum Rodighero, Luís Gustavo Ramos Raupp Pereira, Giovanna Barcellos Flores, Júlhia Spuldaro Rabuske, Andressa Van Riel, Alice Fátima Moraes Benittes
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