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

## TL;DR

This paper reports a rare case of dilated cardiomyopathy in a 32-year-old man with Rubinstein-Taybi syndrome and emphasizes the importance of cardiac screening in such patients.

## Contribution

The novelty lies in highlighting DCM as a potential cardiac manifestation in RTS, with a call for improved diagnostic and therapeutic guidelines.

## Key findings

- A 32-year-old male with RTS presented with dilated cardiomyopathy confirmed by echocardiography.
- The patient responded to diuretic treatment for heart failure and required specialized cardiology care.
- Few cases of DCM in RTS have been reported, suggesting a need for further research into the genetic-cardiac link.

## 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.