Incidence of alveolar capillary dysplasia with misalignment of pulmonary veins in infants with unexplained severe pulmonary hypertension: The roles of clinical, pathological, and genetic testing

2021 ◽  
Vol 155 ◽  
pp. 105323
Author(s):  
Tetsuo Onda ◽  
Takuma Akimoto ◽  
Itaru Hayasaka ◽  
Masahiko Ikeda ◽  
Yuta Furuse ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Genetic Testing ◽  
Pulmonary Veins ◽  
Severe Pulmonary Hypertension ◽  
Alveolar Capillary Dysplasia ◽  
Alveolar Capillary

Congenital Misalignment of Pulmonary Veins with Alveolar Capillary Dysplasia Causing Persistent Neonatal Pulmonary Hypertension: Report of Two Affected Siblings

2000 ◽  
Vol 3 (3) ◽  
pp. 271-276 ◽  
Author(s):  
Carmen Gutierrez ◽  
Angeles Rodriguez ◽  
Sylvia Palenzuela ◽  
Carolina Forteza ◽  
Jose L. Diaz Rossello
Keyword(s):  
Pulmonary Hypertension ◽  
Pulmonary Veins ◽  
Duodenal Atresia ◽  
Persistent Pulmonary Hypertension ◽  
Pulmonary Vessels ◽  
Alveolar Capillary Dysplasia ◽  
Pulmonary Abnormality ◽  
Alveolar Capillary

Misalignment of pulmonary vessels with alveolar capillary dysplasia is a rare cause of persistent pulmonary hypertension of the newborn. Most of the reported cases have been sporadic. We present two consecutive affected siblings with this disorder. This is the fifth reported family occurrence of this condition. In addition to the pulmonary abnormality, one of our cases had duodenal atresia.

scholarly journals Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV): A Case Series

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Joana Miranda ◽  
Gustavo Rocha ◽  
Henrique Soares ◽  
Ana Vilan ◽  
Otília Brandão ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Pulmonary Veins ◽  
Case Series ◽  
Persistent Pulmonary Hypertension ◽  
Lung Disorder ◽  
Alveolar Capillary Dysplasia ◽  
Alveolar Capillary

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare, fatal, developmental lung disorder, which usually presents as persistent pulmonary hypertension of the newborn (PPHN) unresponsive to treatment. The authors present their own experience with three cases admitted during the last 15 years.

A Case of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins (ACD/MPV): The Importance of Early Genetic Testing

2021 ◽  
pp. 097321792098766
Author(s):  
Emily A. Callan ◽  
Gabrielle Geddes ◽  
Girjia G. Konduri ◽  
Stephanie Handler
Keyword(s):  
Genetic Testing ◽  
Lung Biopsy ◽  
Pulmonary Veins ◽  
Newborn Period ◽  
Hypoxemic Respiratory Failure ◽  
Alveolar Capillary Dysplasia ◽  
Forkhead Box ◽  
Substantial Risk ◽  
Almost All ◽  
Alveolar Capillary

Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) is a rare, lethal condition caused by irregular pulmonary vascular maturation. Almost all cases present in the newborn period with ensuing respiratory decline within a couple days of life, ultimately leading to nearly 100% neonatal mortality. While the gold standard for diagnosis is lung biopsy, the identification of the Forkhead Box F1 (FOXF1) gene as the main genetic cause of ACD/MPV has allowed for a definitive diagnosis to be made without performing a high-risk procedure in a critically-ill neonate. This case report describes an ACD/MPV patient with hyperinsulinemia and refractory hypoglycemia as well as multiple anomalies who was found to have a novel pathogenic variant in the FOXF1 gene, identified via exome with copy number analysis, which results in premature protein termination (NM 001451.2 c.637 dup, p.Val213Glyfs*82). Our patient showcases the importance of early genetic testing to diagnose ACD/MPV given the substantial risk in obtaining a lung biopsy in a patient with hypoxemic respiratory failure, severe pulmonary hypertension, and vasodilator-induced pulmonary edema.

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

2021 ◽  
pp. 1-3
Author(s):  
Josue Diaz-Frias ◽  
Paul R. Mark ◽  
E. Oliver Aregullin
Keyword(s):  
Pulmonary Hypertension ◽  
Genetic Variants ◽  
Multidisciplinary Approach ◽  
Neonatal Period ◽  
Early Recognition ◽  
Heart Defects ◽  
Pulmonary Veins ◽  
Alveolar Capillary Dysplasia ◽  
Associated Lesions ◽  
Alveolar Capillary

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.

Congenital Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins Associated with Hypoplastic Left Heart Syndrome

2001 ◽  
Vol 4 (2) ◽  
pp. 167-174 ◽  
Author(s):  
R. Rabah ◽  
J.M. Poulik
Keyword(s):  
Pulmonary Hypertension ◽  
Hypoplastic Left Heart Syndrome ◽  
Pulmonary Veins ◽  
Left Heart ◽  
Hypoplastic Left Heart ◽  
Term Infants ◽  
Alveolar Capillary Dysplasia ◽  
Arterial Blood ◽  
Left Heart Syndrome ◽  
Alveolar Capillary

Three full-term infants died in the first month of life with hypoplastic left heart syndrome (HLH) and persistent pulmonary hypertension (PPH). At postmortem examination, they were found to have alveolar capillary dysplasia with misalignment of pulmonary veins (ACD with MPV). The association of HLH syndrome, and ACD with MPV with intestinal malrotation and/or obstruction, is unique. Decreased blood flow in the ascending aorta in fetuses with left outflow tract obstruction might cause vasoconstriction of pulmonary arterioles to maintain cerebral perfusion. Vasoconstriction early during embryo-genesis might lead to decreased growth and development of alveolar capillaries and pulmonary veins. This results in pulmonary hypertension, and the arterial blood is forced to bypass the deficient capillary bed and can drain only via the anomalous bronchial veins.

scholarly journals Nanoparticle Delivery of STAT3 Alleviates Pulmonary Hypertension in a Mouse Model of Alveolar Capillary Dysplasia

Circulation ◽  
2021 ◽  
Author(s):  
Fei Sun ◽  
Guolun Wang ◽  
Arun Pradhan ◽  
Kui Xu ◽  
Jose Gomez-Arroyo ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Pulmonary Veins ◽  
Embryonic Stem ◽  
Nanoparticle Delivery ◽  
Cell Lineages ◽  
Alveolar Capillary Dysplasia ◽  
Blastocyst Complementation ◽  
Neonatal Lung ◽  
Alveolar Capillary

Background: Pulmonary hypertension (PH) is a common complication in patients with Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV), a severe congenital disorder associated with mutations in the FOXF1 gene. While the loss of alveolar microvasculature causes PH in ACDMPV patients, it is unknown whether increasing neonatal lung angiogenesis could prevent PH and right ventricular (RV) hypertrophy. Methods: We used echocardiography, RV catheterization, immunostaining and biochemical methods to examine lung and heart remodeling and RV output in Foxf1 WT/S52F mice carrying the S52F Foxf1 mutation (identified in ACDMPV patients). The ability of Foxf1 WT/S52F mutant embryonic stem cells (ESCs) to differentiate into respiratory cell lineages in vivo was examined using blastocyst complementation. Intravascular delivery of nanoparticles with a non-integrating Stat3 expression vector was used to improve neonatal pulmonary angiogenesis in Foxf1 WT/S52F mice and determine its effects on PH and RV hypertrophy. Results: Foxf1 WT/S52F mice developed PH and RV hypertrophy after birth. The severity of PH in Foxf1 WT/S52F mice directly correlated with mortality, low body weight, pulmonary artery muscularization and increased collagen deposition in the lung tissue. Increased fibrotic remodeling was found in human ACDMPV lungs. Mouse ESCs carrying the S52F Foxf1 mutation were used to produce chimeras via blastocyst complementation and to demonstrate that Foxf1 WT/S52F ESCs have a propensity to differentiate into pulmonary myofibroblasts. Intravascular delivery of nanoparticles carrying Stat3 cDNA protected Foxf1 WT/S52F mice from RV hypertrophy and PH, improved survival and decreased fibrotic lung remodeling. Conclusions: Nanoparticle therapies increasing neonatal pulmonary angiogenesis may be considered to prevent PH in ACDMPV.

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
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