Novel Case of Prader-Willi Syndrome and Ebstein's Anomaly: Implications for Complex Care Management
Donald Mattia1, Christopher Lindblade2, Oliver Oatman3
1Department of General Pediatrics, Phoenix Children's Hospital, Phoenix, Arizona, United States.
Insights
This is the first reported case of a patient with both Ebstein's anomaly and Prader-Willi syndrome (PWS). The complex case highlights the need for comprehensive genetic evaluation and multidisciplinary care.
Area of Science:
- Genetics
- Cardiology
- Pediatrics
Background:
- Ebstein's anomaly is a congenital heart defect.
- Prader-Willi syndrome (PWS) is a complex genetic disorder.
- Co-occurrence of these conditions is unprecedented.
Purpose of the Study:
- To report the first case of a patient with both Ebstein's anomaly and Prader-Willi syndrome.
- To investigate potential genetic underpinnings and clinical implications.
- To emphasize the importance of a multidisciplinary approach.
Main Methods:
- Prenatal ultrasound for Ebstein's anomaly diagnosis.
- Clinical evaluation for PWS diagnosis (hypotonia, feeding issues, weight gain, dysmorphic features).
- Whole exome sequencing for genetic variant identification.
Main Results:
- Patient diagnosed with Ebstein's anomaly and PWS.
- Additional findings: Blaschkoid hyperpigmentation, laryngeal cleft, pigmentary retinopathy.
- Whole exome sequencing identified a likely pathogenic alkaline phosphatase gene variant and mitochondrial DNA variants.
Conclusions:
- This unique case underscores the complexity of rare genetic disorders.
- Highlights the need for thorough diagnostic workups in patients with complex phenotypes.
- Emphasizes the critical role of a multidisciplinary team in managing such cases.
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.
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