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DOI: 10.1055/s-0041-1732473
Cardiovascular Phenotypic Spectrum of 1p36 Deletion Syndrome
Funding None.![](https://www.thieme-connect.de/media/10.1055-s-00029027/202304/lookinside/thumbnails/10-1055-s-0041-1732473_2000199-1.jpg)
Abstract
Chromosome 1p36 deletion syndrome is a common genetic anomaly (prevalence: 1 in 5,000–1 in 10,000). Despite reports of cardiovascular involvement, the cardiovascular phenotypic spectrum of patients with 1p36 deletion syndrome is not well characterized. In this article, we reported the clinical course of a full-term African American boy with chromosome 1p36 deletion syndrome and neonatal onset of severe cardiac disease with moderate-to-severe biventricular dysfunction and severe pulmonary hypertension. Early neonatal onset presentation of 1p36 deletion syndrome is rare and might be associated with a more guarded prognosis. This case based study is supplemented by a comprehensive review of cardiovascular involvement in this relatively common genetic syndrome.
Keywords
1p36 deletion - congenital heart disease - pulmonary hypertension - noncompaction cardiomyopathy - dilated cardiomyopathyPublication History
Received: 27 December 2020
Accepted: 25 May 2021
Article published online:
29 July 2021
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