# Case report of heterotaxy syndrome with sinus node dysfunction and left ventricular hypertrabeculation: clinical and genetic insights

## TL;DR

A 41-year-old woman with a rare heart condition and genetic duplication is reported, offering new insights into heterotaxy syndrome and its genetic basis.

## Contribution

The paper reports a novel MED13 gene duplication associated with heterotaxy syndrome and cardiac dysfunction.

## Key findings

- A patient with left atrial isomerism and sinus node dysfunction had a MED13 gene duplication.
- The duplication on chromosome 17q23.2 is linked to conduction disorders and ventricular hypertrabeculation.
- The clinical significance of the MED13 duplication remains to be determined.

## Abstract

We present the case of a 41-year-old woman with left atrial isomerism, severe sinus node dysfunction, and left ventricular hypertrabeculation, who required implantation of a dual-chamber implantable cardioverter-defibrillator with left bundle branch area pacing. Her family history revealed multiple cases of heterotaxy and conduction disorders. Genetic testing identified a heterozygous interstitial duplication on chromosome 17q23.2 involving the MED13 gene, whose clinical significance has not yet been determined.