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

Author:

Arunachalam Venkata Subbaih1ORCID,Valakkada Jineesh1ORCID,Ayyappan Anoop1ORCID

Affiliation:

1. Department of Imaging Sciences and Interventional Radiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India

Abstract

AbstractHolt-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.

Publisher

Georg Thieme Verlag KG

Subject

Radiology, Nuclear Medicine and imaging

Reference8 articles.

1. Holt-Oram syndrome [in Hungarian];C Elek;Orv Hetil,1991

2. Holt-Oram syndrome with right lung agenesis caused by a de novo mutation in the TBX5 gene;Y-R Tseng;Am J Med Genet A,2007

3. Perinatal/neonatal case presentation: unexpected severe respiratory insufficiency in a newborn with Holt-Oram syndrome;K Smets;J Perinatol,2005

4. Horseshoe lung associated with Holt-Oram syndrome;X Qin;Iran J Pediatr,2015

5. Holt-Oram syndrome in combination with reciprocal translocation, lung hypoplasia and cardiomyopathy [in German];F Kullmann;Klin Padiatr,1993

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