J Pediatr Genet 2023; 12(04): 329-334
DOI: 10.1055/s-0041-1732473
Case-Based Review

Cardiovascular Phenotypic Spectrum of 1p36 Deletion Syndrome

Tripat Kaur
1   Department of Pediatrics, Comer Children's Hospital, Chicago, Illinois, United States
Chenni S. Sriram
2   Department of Pediatrics, Children's Hospital of Michigan, Central Michigan University, Detroit, Michigan, United States
Priyanka Prasanna
3   Stevenson High School, Lincolnshire, Illinois, United States
4   Department of Pediatrics, Division of Pediatric Cardiology, Comer Children's Hospital and The Pritzker School of Medicine of University of Chicago, Chicago, Illinois, United States
5   Department of Pediatrics, Division of Pediatric Cardiology, West Virginia University School of Medicine, Morgantown, West Virginia, United States
› Author Affiliations
Funding None.


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.

Publication History

Received: 27 December 2020

Accepted: 25 May 2021

Article published online:
29 July 2021

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