Saurabh Agarwal MD, Presenter: Nothing to Disclose

Marilyn J. Siegel MD, Abstract Co-Author: Research Consultant, Siemens AG Speakers Bureau, Siemens AG

Cylen Javidan-Nejad MD, Abstract Co-Author: Nothing to Disclose

1. Discuss inheritance patterns and genotypes of inherited lung diseases in adults 2. Understand CT features of these diseases 3. Describe a pattern-based approach to diagnosing inherited lung diseases, based on predominant CT abnormality: nodules, lines, airspace patterns, and cysts. 

Introduction: Importance of multidisciplinary consultation in diagnosis of inherited lung disease Genetics in inherited lung disease CT findings of diseases with diffuse systemic abnormalities Tuberous sclerosis Lymphangioleiomyomatosis Neurofibromatosis Cystic Fibrosis Marfan Syndrome Birt-Hogg-Dube Other rare diseases CT findings of diseases with predominantly pulmonary phenotypes Congenital pulmonary alveolar proteinosis Alpha1-antitrypsin deficiency Kartagener syndrome Key primary elements to identify inherited lung disease: a pattern based approach Conclusion: Understanding the CT features of inherited interstitial lung diseases is vital for appropriate diagnosis and treatment planning Future directions of genetic analysis in inherited lung diseases  

http://abstract.rsna.org/uploads/2014/14004623/14004623_a8a2.pdf

Agarwal, S, Siegel, M, Javidan-Nejad, C, Thoracic Manifestations of Inherited Interstitial Lung Diseases: Genotype vs. Phenotype.  Radiological Society of North America 2014 Scientific Assembly and Annual Meeting, - ,Chicago IL. http://archive.rsna.org/2014/14004623.html