Unique Pulmonary Hypertensive Vascular Diseases Associated with Heart and Lung Developmental Defects
Although pediatric pulmonary hypertension (PH) shares features and mechanisms with adult PH, there are also some significant differences between the two conditions. Segmental PH is a unique pediatric subtype of PH with unclear and/or multifactorial pathophysiological mechanisms, and is often associa...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2023-08-01
|
| Series: | Journal of Cardiovascular Development and Disease |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2308-3425/10/8/333 |
| _version_ | 1827729595469660160 |
|---|---|
| author | Hidekazu Ishida Jun Maeda Keiko Uchida Hiroyuki Yamagishi |
| author_facet | Hidekazu Ishida Jun Maeda Keiko Uchida Hiroyuki Yamagishi |
| author_sort | Hidekazu Ishida |
| collection | DOAJ |
| description | Although pediatric pulmonary hypertension (PH) shares features and mechanisms with adult PH, there are also some significant differences between the two conditions. Segmental PH is a unique pediatric subtype of PH with unclear and/or multifactorial pathophysiological mechanisms, and is often associated with complex congenital heart disease (CHD), pulmonary atresia with ventricular septal defect, and aortopulmonary collateral arteries. Some cases of complex CHD, associated with a single ventricle after Fontan operation, show pathological changes in the small peripheral pulmonary arteries and pulmonary vascular resistance similar to those observed in pulmonary arterial hypertension (PAH). This condition is termed as the pediatric pulmonary hypertensive vascular disease (PPHVD). Recent advances in genetics have identified the genes responsible for PAH associated with developmental defects of the heart and lungs, such as <i>TBX4</i> and <i>SOX17</i>. Targeted therapies for PAH have been developed; however, their effects on PH associated with developmental heart and lung defects remain to be established. Real-world data analyses on the anatomy, pathophysiology, genetics, and molecular biology of unique PPHVD cases associated with developmental defects of the heart and lungs, using nationwide and/or international registries, should be conducted in order to improve the treatments and prognosis of patients with these types of pediatric PH. |
| first_indexed | 2024-03-10T23:51:52Z |
| format | Article |
| id | doaj.art-dbe428037d5e48f4ac4cbf4484fc70f5 |
| institution | Directory Open Access Journal |
| issn | 2308-3425 |
| language | English |
| last_indexed | 2024-03-10T23:51:52Z |
| publishDate | 2023-08-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Cardiovascular Development and Disease |
| spelling | doaj.art-dbe428037d5e48f4ac4cbf4484fc70f52023-11-19T01:38:11ZengMDPI AGJournal of Cardiovascular Development and Disease2308-34252023-08-0110833310.3390/jcdd10080333Unique Pulmonary Hypertensive Vascular Diseases Associated with Heart and Lung Developmental DefectsHidekazu Ishida0Jun Maeda1Keiko Uchida2Hiroyuki Yamagishi3Department of Pediatrics, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita 565-0871, Osaka, JapanDepartment of Cardiology, Tokyo Metropolitan Children’s Medical Center, 2-8-29 Musashidai, Fuchu 183-8561, Tokyo, JapanDepartment of Pediatrics, Keio University of Medicine, 35 Shinanomachi, Shinjuku-ku 160-8582, Tokyo, JapanDepartment of Pediatrics, Keio University of Medicine, 35 Shinanomachi, Shinjuku-ku 160-8582, Tokyo, JapanAlthough pediatric pulmonary hypertension (PH) shares features and mechanisms with adult PH, there are also some significant differences between the two conditions. Segmental PH is a unique pediatric subtype of PH with unclear and/or multifactorial pathophysiological mechanisms, and is often associated with complex congenital heart disease (CHD), pulmonary atresia with ventricular septal defect, and aortopulmonary collateral arteries. Some cases of complex CHD, associated with a single ventricle after Fontan operation, show pathological changes in the small peripheral pulmonary arteries and pulmonary vascular resistance similar to those observed in pulmonary arterial hypertension (PAH). This condition is termed as the pediatric pulmonary hypertensive vascular disease (PPHVD). Recent advances in genetics have identified the genes responsible for PAH associated with developmental defects of the heart and lungs, such as <i>TBX4</i> and <i>SOX17</i>. Targeted therapies for PAH have been developed; however, their effects on PH associated with developmental heart and lung defects remain to be established. Real-world data analyses on the anatomy, pathophysiology, genetics, and molecular biology of unique PPHVD cases associated with developmental defects of the heart and lungs, using nationwide and/or international registries, should be conducted in order to improve the treatments and prognosis of patients with these types of pediatric PH.https://www.mdpi.com/2308-3425/10/8/333congenital heart diseasedevelopmental disordersFontan circulationgenetic analysismajor aortopulmonary collateral arteriespulmonary hypertension |
| spellingShingle | Hidekazu Ishida Jun Maeda Keiko Uchida Hiroyuki Yamagishi Unique Pulmonary Hypertensive Vascular Diseases Associated with Heart and Lung Developmental Defects Journal of Cardiovascular Development and Disease congenital heart disease developmental disorders Fontan circulation genetic analysis major aortopulmonary collateral arteries pulmonary hypertension |
| title | Unique Pulmonary Hypertensive Vascular Diseases Associated with Heart and Lung Developmental Defects |
| title_full | Unique Pulmonary Hypertensive Vascular Diseases Associated with Heart and Lung Developmental Defects |
| title_fullStr | Unique Pulmonary Hypertensive Vascular Diseases Associated with Heart and Lung Developmental Defects |
| title_full_unstemmed | Unique Pulmonary Hypertensive Vascular Diseases Associated with Heart and Lung Developmental Defects |
| title_short | Unique Pulmonary Hypertensive Vascular Diseases Associated with Heart and Lung Developmental Defects |
| title_sort | unique pulmonary hypertensive vascular diseases associated with heart and lung developmental defects |
| topic | congenital heart disease developmental disorders Fontan circulation genetic analysis major aortopulmonary collateral arteries pulmonary hypertension |
| url | https://www.mdpi.com/2308-3425/10/8/333 |
| work_keys_str_mv | AT hidekazuishida uniquepulmonaryhypertensivevasculardiseasesassociatedwithheartandlungdevelopmentaldefects AT junmaeda uniquepulmonaryhypertensivevasculardiseasesassociatedwithheartandlungdevelopmentaldefects AT keikouchida uniquepulmonaryhypertensivevasculardiseasesassociatedwithheartandlungdevelopmentaldefects AT hiroyukiyamagishi uniquepulmonaryhypertensivevasculardiseasesassociatedwithheartandlungdevelopmentaldefects |