title: Cardiac manifestations of Pallister-Killian syndrome.
abstract: 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 PKS, the full spectrum of heart disease is still not entirely known. Here, we describe the pattern of cardiac findings of 81 probands with PKS who have had at least one cardiac evaluation, demonstrating structural heart difference in 37% of our 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. We suggest cardiac evaluation for all individuals with PKS at the time of diagnosis as well as subsequent longitudinal follow-up to monitor for the development of cardiomyopathy and aortic dilatation.
authors: Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Temple University School of Medicine, Philadelphia, Pennsylvania.
authors: Richard K
authors: RK
authors: Tilton
authors: Alisha
authors: A
authors: Wilkens
authors: Ian D
authors: ID
authors: Krantz
authors: Kosuke
authors: K
authors: Izumi
mesh_terms: D002675:Child, Preschool; D025063:Chromosome Disorders / Q000175:diagnosis*; D002881:Chromosomes, Human, Pair 12; D015331:Cohort Studies; D004452:Echocardiography; D019066:Facies; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis
keywords: 12p; aortic dilation; bicuspid aortic valve; isochromosome