Rare diseases Xagena

Xagena Mappa
Xagena Newsletter

Pallister-Killian syndrome: cardiac manifestations

Pallister-Killian syndrome ( PKS ) is a sporadic multisystem genetic diagnosis characterized by facial dysmorphia, variable developmental delay and intellectual impairment, hypotonia, hearing loss, seizures, differences in skin pigmentation, temporal alopecia, diaphragmatic hernia, congenital heart defects, and other systemic abnormalities.

Although congenital heart defects have been described in association with Pallister-Killian syndrome, the full spectrum of heart disease is still not entirely known.

Researchers at The Children's Hospital of Philadelphia ( United States ) have described the pattern of cardiac findings of 81 probands with Pallister-Killian syndrome who have had at least one cardiac evaluation, demonstrating structural heart difference in 37% of the cohort ( n=30 ).
Septal defects such as atrial or ventricular septal defects ( n = 12 ) were the most commonly seen congenital heart differences.

Additional findings included the occasional occurrence of bicuspid aortic valve, aortic dilatation, and cardiac hypertrophy/cardiomyopathy.

Cardiac evaluation should be performed for all individuals with Pallister-Killian syndrome at the time of diagnosis as well as subsequent longitudinal follow-up to monitor for the development of cardiomyopathy and aortic dilatation. ( Xagena )

Tilton RK et al, Am J Med Genet A 2014; Epub ahead of print