Cardiovascular Phenotypic Spectrum of 1p36 Deletion Syndrome

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 cardiomyopathy

Publication History

Received: 27 December 2020

Accepted: 25 May 2021

Article published online:
29 July 2021

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