International Clinical and Medical Case Reports Journal (ISSN: 2832-5788) | Volume 5, Issue 10 | Case Report | Open Access DOI
Samiha Sajida*
Samiha Sajida1,2*, Manvir Singh Duhra1, Jordan Gertenstein1, Dr M. Gabriella Rizzo3
1Pediatric Critical Care, Cork University Hospital, Cork, IRL
2Anesthesiology and Critical Care, Cork University Hospital, Cork, IRL
3Internal Medicine, Cork University Hospital, Cork, IRL
*Correspondence to: Samiha Sajida
Fulltext PDFCongenital titinopathies, arising from biallelic truncating, splice-altering, or metatranscript-only variants in the TTN gene, typically present with hypotonia, arthrogryposis, feeding difficulty, and respiratory insufficiency. Cardiac risk in this group is variant-position-dependent and age-penetrant rather than uniform, and presentations dominated by bulbar dysfunction without cardiac involvement remain sparsely documented. We describe a 12-year-old girl of Irish Traveller descent with a clinical diagnosis of congenital titinopathy and arthrogryposis multiplex congenita (AMC); biallelic TTN truncating variants were reported in early childhood, but the primary molecular report was not retained and could not be recovered, leaving the variant position and its predicted effect on cardiac isoforms unknown. Her phenotype is marked by severe bulbar impairment manifesting as persistent oropharyngeal dysphagia, recurrent aspiration, and gastrointestinal dysmotility, in the absence of cardiac or pharyngeal anatomical abnormalities. She is BiPAP-dependent and PEG-fed, with only intermittent oral intake due to aspiration risk, and has undergone multiple hospitalisations for aspiration pneumonia, faecal loading, and suspected sepsis. Despite repeated episodes of respiratory decompensation, cardiac structure and function have remained normal on serial echocardiography and ECG across more than a decade, and surveillance is continuing. A sibling reported to share the same TTN genotype demonstrates only distal weakness, underscoring notable intrafamilial phenotypic variability. This case documents a bulbar-dominant congenital titinopathy without cardiomyopathy to date, while illustrating that the loss of molecular records precludes genotype-based cardiac risk stratification and therefore does not permit surveillance to be relaxed. The patient's sociomedical context, including caregiver burden and structural barriers to care, further emphasises the need for culturally contextualised genomic services and longitudinal multidisciplinary support in underserved populations.
Arthrogryposis; Caregiver burden; Congenital myopathy, Genomic inequity; Health equity; Intrafamilial variability; Irish traveller; Peg feeding; Titinopathy; ttn gene
Samiha Sajida, Manvir Singh Duhra, Jordan Gertenstein,M Gabriella Rizzo. Severe Bulbar Dysfunction Without Cardiac Involvement In a Pediatric Congenital Titin Myopathy: A Rare Phenotype In an Irish Traveller Family with Complex Genetic, Clinical, and Sociomedical Implications: A Case Report. Int Clinc Med Case Rep Jour. 2026;5(10):1-10.