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Two cases of different genetic variants of alveolar capillary dysplasia associated with left-sided obstructive CHDs

Part of: Basic Science

Published online by Cambridge University Press:  05 March 2021

Josue Diaz-Frias Open the ORCID record for Josue Diaz-Frias [Opens in a new window] ,
Paul R. Mark  and
E. Oliver Aregullin
Josue Diaz-Frias
Affiliation:
Congenital Heart Center, Spectrum Health Helen DeVos Children’s Hospital, Grand Rapids, MI, USA
Paul R. Mark
Affiliation:
Division of Medical Genetics, Spectrum Health, Grand Rapids, MI, USA Pediatrics and Human Development, Michigan State University College of Human Medicine, Grand Rapids, MI, USA
E. Oliver Aregullin*
Affiliation:
Congenital Heart Center, Spectrum Health Helen DeVos Children’s Hospital, Grand Rapids, MI, USA Pediatrics and Human Development, Michigan State University College of Human Medicine, Grand Rapids, MI, USA
*
Author for correspondence: E. Oliver Aregullin MD, Helen DeVos Children’s Hospital, 100 Michigan NE, Grand Rapids, MI 49503, USA. Tel: +1 616 486 1495; Fax: (616) 267-1408. E-mail: oliver.aregullin@helendevoschildrens.org
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Abstract

Alveolar capillary dysplasia with misalignment of the pulmonary veins is an uncommon disorder that affects the lung vasculature development in the neonatal period and leads to pulmonary hypertension. We describe two patients with alveolar capillary dysplasia associated with left-sided obstructive heart defects with two different genetic variants. Our cases highlight the importance of early recognition of this disease in the setting of persistent and supra-systemic pulmonary hypertension despite surgical correction of the associated lesions. Identification of these cases will facilitate the development of a multidisciplinary approach and provide guidance to the affected families.

Keywords

Alveolar capillary dysplasiaCHDpulmonary hypertension
Type
Brief Report
Information
Cardiology in the Young , Volume 31 , Issue 8 , August 2021 , pp. 1368 - 1370
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Copyright
© The Author(s), 2021. Published by Cambridge University Press

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