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CC BY-NC-ND 4.0 · Indian J Radiol Imaging 2024; 34(02): 347-350
DOI: 10.1055/s-0043-1776882
Case Report

Holt-Oram Syndrome with Pulmonary Involvement—A Valuable Algorithm to Follow

Venkata Subbaih Arunachalam 
1   Department of Imaging Sciences and Interventional Radiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India
,
Jineesh Valakkada 
1   Department of Imaging Sciences and Interventional Radiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India
,
Anoop Ayyappan 
1   Department of Imaging Sciences and Interventional Radiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India
› Author Affiliations Funding None.
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Abstract

Holt-Oram syndrome comprises a rare spectrum of congenital cardiovascular and appendicular skeletal anomalies. However, only a few cases have reported lung involvement in Holt-Oram syndrome. We reported the rare case of a 1-year-old male child patient who presented with upper limb abnormalities and respiratory distress and was diagnosed with pulmonary agenesis and pulmonary arterial hypertension secondary to an atrial septal defect.

Keywords

lung agenesis - Holt-Oram syndrome - posterior lung herniation - horseshoe lung - cardiac limb syndrome


Publication History

Article published online:
23 November 2023

© 2023. Indian Radiological Association. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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