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Case Report Open Access

Dilated cardiomyopathy in Rubinstein‑Taybi syndrome: A case report and mini‑review of the literature

  • Authors:
    • Ahsen Shah
    • Asad Riaz
    • Abdul Muhymin Alam Khattak
    • Hasham Qureshi
    • Zanib Ejaz
    • Muhammad Mustafa
  • View Affiliations / Copyright

    Affiliations: Department of General Medicine, Ayub Teaching Hospital, Abbottabad 22010, Pakistan, Department of General Surgery, Ayub Teaching Hospital, Abbottabad 22010, Pakistan, Department of Medical Oncology, St. Vincent's Private Hospital, Dublin 4, D04 N2E0, Ireland, North Dublin Mental Health Service, Dublin D09 X85P, Ireland
    Copyright: © Shah et al. This is an open access article distributed under the terms of Creative Commons Attribution License [CC BY 4.0].
  • Article Number: 82
    |
    Published online on: October 29, 2025
       https://doi.org/10.3892/mi.2025.281
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Abstract

Rubinstein‑Taybi syndrome (RTS) or Broad Thumb‑Hallux syndrome, is a rare neurodevelopmental disorder characterized by distinctive physical, cognitive and congenital abnormalities. Mutations in the CREBBP or EP300 genes are implicated, often arising de novo. While cardiac defects are noted in 32.6% of patients with RTS, the association with dilated cardiomyopathy (DCM) remains poorly explored. The present study describes a clinically diagnosed case of a 32‑year‑old male patient with RTS, manifesting with symptoms of heart failure. The patient, born to a consanguineous marriage, exhibited hallmark features of RTS, including short stature, dysmorphic facial features, intellectual disability and broad thumbs. DCM was confirmed by echocardiography with an ejection fraction of 20%. The patient responded well to diuretics for heart failure and was referred for specialized cardiology and surgical management. Cardiac manifestations in RTS vary from septal defects to complex anomalies, with few reports on DCM. The genetic basis of RTS may contribute to cardiac dysfunction, underscoring the need for multidisciplinary care. The case described herein highlights the necessity of recognizing RTS in adults with unexplained syndromic features and cardiac symptoms. Comprehensive evaluation, including cardiac screening, is essential for improving patient outcomes. Further research is warranted to establish the link between RTS and DCM and to develop diagnostic and therapeutic guidelines.
View Figures

Figure 1

Characteristic hand anomalies in
Rubinstein-Taybi syndrome. Dorsal and palmar views of both hands
illustrating broad, angulated thumbs, shortened fingers and broad
terminal phalanges.

Figure 2

Foot abnormalities in Rubinstein-Taybi
syndrome. Broad and medially deviated halluces, short broad toes
with nail changes and pes cavus deformity are demonstrated.

Figure 3

Facial features in Rubinstein-Taybi
syndrome. Frontal and lateral views illustrating prominent nasal
bridge, a beaked nose, thick and arched eyebrows, hypertelorism and
mild mandibular asymmetry.

Figure 4

Severe dental caries in a patient with
Rubinstein-Taybi syndrome. Clinical image illustrating multiple
posterior teeth with extensive crown destruction, secondary caries
around previous restorations and poor oral hygiene.
View References

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Copy and paste a formatted citation
Spandidos Publications style
Shah A, Riaz A, Khattak AA, Qureshi H, Ejaz Z and Mustafa M: Dilated cardiomyopathy in Rubinstein‑Taybi syndrome: A case report and mini‑review of the literature. Med Int 5: 82, 2025.
APA
Shah, A., Riaz, A., Khattak, A.A., Qureshi, H., Ejaz, Z., & Mustafa, M. (2025). Dilated cardiomyopathy in Rubinstein‑Taybi syndrome: A case report and mini‑review of the literature. Medicine International, 5, 82. https://doi.org/10.3892/mi.2025.281
MLA
Shah, A., Riaz, A., Khattak, A. A., Qureshi, H., Ejaz, Z., Mustafa, M."Dilated cardiomyopathy in Rubinstein‑Taybi syndrome: A case report and mini‑review of the literature". Medicine International 5.6 (2025): 82.
Chicago
Shah, A., Riaz, A., Khattak, A. A., Qureshi, H., Ejaz, Z., Mustafa, M."Dilated cardiomyopathy in Rubinstein‑Taybi syndrome: A case report and mini‑review of the literature". Medicine International 5, no. 6 (2025): 82. https://doi.org/10.3892/mi.2025.281
Copy and paste a formatted citation
x
Spandidos Publications style
Shah A, Riaz A, Khattak AA, Qureshi H, Ejaz Z and Mustafa M: Dilated cardiomyopathy in Rubinstein‑Taybi syndrome: A case report and mini‑review of the literature. Med Int 5: 82, 2025.
APA
Shah, A., Riaz, A., Khattak, A.A., Qureshi, H., Ejaz, Z., & Mustafa, M. (2025). Dilated cardiomyopathy in Rubinstein‑Taybi syndrome: A case report and mini‑review of the literature. Medicine International, 5, 82. https://doi.org/10.3892/mi.2025.281
MLA
Shah, A., Riaz, A., Khattak, A. A., Qureshi, H., Ejaz, Z., Mustafa, M."Dilated cardiomyopathy in Rubinstein‑Taybi syndrome: A case report and mini‑review of the literature". Medicine International 5.6 (2025): 82.
Chicago
Shah, A., Riaz, A., Khattak, A. A., Qureshi, H., Ejaz, Z., Mustafa, M."Dilated cardiomyopathy in Rubinstein‑Taybi syndrome: A case report and mini‑review of the literature". Medicine International 5, no. 6 (2025): 82. https://doi.org/10.3892/mi.2025.281
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