Abstract
We present a patient with a complex phenotype including diagnoses of Ebstein's anomaly
and Prader–Willi syndrome (PWS) as well as additional congenital anomalies and genetic
variants with potential clinical effects. This is the first reported case of both
diagnoses present in the same patient. The diagnosis of Ebstein's anomaly was made
on prenatal ultrasound. She presented with neonatal hypotonia, feeding problems, and
dysmorphic features, followed by later onset weight gain, leading to a diagnosis of
PWS. Further evaluations revealed Blaschkoid hyperpigmentation, laryngeal cleft, and
pigmentary retinopathy. Whole exome sequencing determined a likely pathogenic variant
in alkaline phosphatase gene and several mitochondrial DNA variants. We discuss the
known genetic mechanisms of PWS and compare them to the heterogenous genetic associations
of Ebstein's anomaly. The standard of care treatment for PWS is growth hormone therapy,
which is associated with right-sided heart failure risks. This case illustrates the
need to complete the diagnostic work up in all patients, as well as the necessity
of a multidisciplinary approach for optimal outcomes.
Keywords
Prader–Willi - Ebstein's anomaly - Growth hormone - Blaschkoid hyperpigmentation
