Alveolar capillary dysplasia with antenatal anomalies mimicking trisomy 21

2001 ◽  
Vol 37 (1) ◽  
pp. 85-86 ◽  
Author(s):  
J. McGaughran ◽  
DJ Souter ◽  
CA Kuschel
Keyword(s):  
Trisomy 21 ◽  
Alveolar Capillary Dysplasia ◽  
Alveolar Capillary

Alveolar Capillary Dysplasia in an Infant with Trisomy 21

2005 ◽  
Vol 8 (6) ◽  
pp. 696-700 ◽  
Author(s):  
Bahig M. Shehata ◽  
Carlos R. Abramowsky
Keyword(s):  
Intrauterine Growth Restriction ◽  
Trisomy 21 ◽  
Multiorgan Failure ◽  
Pulmonary Veins ◽  
Significant Risk ◽  
Intrauterine Growth ◽  
Alveolar Capillary Dysplasia ◽  
Endocardial Cushion Defect ◽  
The Many ◽  
Alveolar Capillary

We present a case of an infant with Down syndrome (trisomy 21) who was affected by alveolar capillary dysplasia and other complications including endocardial cushion defect, hypothyroidism, and intrauterine growth restriction. The patient was the product of a third pregnancy to a 33-year-old woman with no significant risk factors. The child lived for 3 months, during which he developed intractable dyspnea, hypoxemia, and cardiac dysfunction and he eventually died from septicemia and multiorgan failure. In addition to the facial phenotypic features and cardiac anomalies, the autopsy revealed the characteristic microscopic pulmonary findings of alveolar capillary dysplasia with misalignment of pulmonary veins. This appears to be the first reported case of this anomaly associated with trisomy 21. In addition to the many reasons for pulmonary hypertension that occur in children with trisomy 21, alveolar capillary dysplasia may have to be included in the differential diagnosis although it appears to be a rare association.

Congenital Alveolar Capillary Dysplasia: Rare Cause of Persistent Pulmonary Hypertension

1997 ◽  
Vol 17 (6) ◽  
pp. 959-975 ◽  
Author(s):  
Sibylle Haraida ◽  
Hannelore Lochbuhler ◽  
A. Heger ◽  
A. Nerlich ◽  
J. Diebold ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Persistent Pulmonary Hypertension ◽  
Alveolar Capillary Dysplasia ◽  
Alveolar Capillary

Early prenatal diagnosis of alveolar capillary dysplasia with misalignment of pulmonary veins due to a 16q24.1 deletion

2021 ◽  
Author(s):  
Chloé Puisney‐Dakhli ◽  
Francesca Gubana ◽  
François Petit ◽  
Hanane Bouchghoul ◽  
Valérie Gautier ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Pulmonary Veins ◽  
Alveolar Capillary Dysplasia ◽  
Alveolar Capillary

237: CONGENITAL HEART DISEASE AND ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS

2018 ◽  
Vol 46 (1) ◽  
pp. 101-101
Author(s):  
Katharine Robb ◽  
Sook-kyung Kwon ◽  
Veerajalandhar Allareddy ◽  
Aditya Badheka
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Pulmonary Veins ◽  
Alveolar Capillary Dysplasia ◽  
Alveolar Capillary

scholarly journals Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspects

2018 ◽  
Vol 8 (3) ◽  
pp. 204589401879514 ◽  
Author(s):  
Evelien Slot ◽  
Gabriëla Edel ◽  
Ernest Cutz ◽  
Arno van Heijst ◽  
Martin Post ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Molecular Mechanism ◽  
Pulmonary Veins ◽  
Clinical Aspects ◽  
Lung Disorder ◽  
Genetic Studies ◽  
Ongoing Research ◽  
Alveolar Capillary Dysplasia ◽  
Alveolar Capillary ◽  
Severe Lung

Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) is a rare and lethal disorder mainly involving the vascular development of the lungs. Since its first description, significant achievements in research have led to a better understanding of the underlying molecular mechanism of ACD/MPV and genetic studies have identified associations with genomic alterations in the locus of the transcription factor FOXF1. This in turn has increased the awareness among clinicians resulting in over 200 cases reported so far, including genotyping of patients in most recent reports. Collectively, this promoted a better stratification of the patient group, leading to new perspectives in research on the pathogenesis. Here, we provide an overview of the clinical aspects of ACD/MPV, including guidance for clinicians, and review the ongoing research into the complex molecular mechanism causing this severe lung disorder.

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