Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review

Chromosome 9p deletion syndrome is a rare autosomal dominant disorder presenting with a broad spectrum of clinical features, including congenital heart defects (CHDs). To date, studies focused on a deep characterization of cardiac phenotype and function associated with this condition are lacking. We conducted a multicentric prospective observational study on a cohort of 10 patients with a molecular diagnosis of 9p deletion syndrome, providing a complete cardiological assessment through conventional echocardiography and tissue Doppler imaging echo modality. As a result, we were able to demonstrate that patients with 9p deletion syndrome without major CHDs may display subclinical cardiac structural changes and left-ventricle systolic and diastolic dysfunction. Albeit needing validation in a larger cohort, our findings support the idea that a complete cardiac assessment should be performed in patients with 9p deletion syndrome and should be integrated in the context of a long-term follow-up.

Automated summary

Chromosome 9p deletion syndrome is a rare autosomal dominant disorder associated with a wide range of clinical features, including congenital heart defects. A study was conducted on a cohort of 10 patients with confirmed 9p deletion syndrome, and it was found that even patients without major heart defects may exhibit subclinical cardiac structural changes and dysfunction. These findings emphasize the importance of comprehensive cardiac assessment and long-term follow-up in patients with 9p deletion syndrome.