Genetic Factors Associated With Pulmonary Vascular Disease

Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension

Jair Antonio Tenorio Castaño, Ignacio Hernández-Gonzalez, Natalia Gallego, Carmen Pérez-Olivares, Nuria Ochoa Parra, Pedro Arias, Elena Granda, Gonzalo Gómez Acebo, Mauro Lago-Docampo, Julian Palomino-Doza, Manuel López Meseguer, María Jesús del Cerro, Spanish PAH Consortium, Diana Valverde, Pablo Lapunzina, Pilar Escribano-SubíasHospital Universitario La Paz-UAM Paseo de La Castellana. Centro de Investigación Biomédica en Red de Enfermedades […]

Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension Read More »

Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry

Alejandro Cruz-Utrilla1, Natalia Gallego-Zazo, Jair Antonio Tenorio-Castaño, Inmaculada Guillén, Alba Torrent-Vernetta, Amparo Moya-Bonora, Carlos Labrandero, María Elvira Garrido-Lestache Rodríguez-Monte, Alejandro Rodríguez-Ogando, María del Mar Rodríguez Vázquez Del Rey, Juana Espín, Beatriz Plata-Izquierdo, María Álvarez-Fuente, Antonio Moreno-Galdó, Pilar Escribano-Subias, María Jesús Del Cerro MarínHospital Universitario 12 de Octubre. Hospital Universitario La Paz. Instituto de Salud Carlos

Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry Read More »

Genetic cause of pulmonary veno-occlusive disease

Kaustubh Mohite, Anil Kumar SapareNarayana Health City.India Lung IndiaLung India 2022; 39: 191-194DOI: 10.4103/lungindia.lungindia_252_21 AbstractPulmonary veno-occlusive disease (PVOD) is an important cause of pulmonary arterial hypertension (PAH) and is classified under idiopathic cause of PAH. Over a period of time, PVOD has been studied in detail in the western countries and various diagnostic criteria are formulated.

Genetic cause of pulmonary veno-occlusive disease Read More »

Pediatric pulmonary veno-occlusive disease associated with a novel BMPR2 variant

Wataru Takemori, Kenichiro Yamamura, Yoshitaka Tomita, Naoki Egami, Hazumu Nagata, Hiromitsu Shirouzu, Yuichi Ishikawa, Daisuke Nakajima, Akihiko Yoshizawa, Hiroshi Date, Shouichi OhgaKyushu University. Fukuoka Children’s Hospital. Kyoto University Graduate School of Medicine, Kyoto and Kyoto University Hospital.Japan Pediatric PulmonologyPediatr Pulmonol 2022; 57: 1366-1369DOI: 10.1002/ppul.25877 AbstractPulmonary veno-occlusive disease (PVOD) and idiopathic/heritable pulmonary arterial hypertension (I/HPAH) cause progressive

Pediatric pulmonary veno-occlusive disease associated with a novel BMPR2 variant Read More »

Case report of juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome: first report in Korea with a novel mutation in the SMAD4 gene

Ben Kang, Su-Kyeong Hwang, Sujin Choi, Eun Soo Kim, Sang Yub Lee, Chang-Seok Ki, Eun-Hae Cho, Ji-Hyuk Lee, Byung-Ho ChoeKyungpook National University. GC Genome. Chungbuk National University College of Medicine.Republic of Korea Translational PediatricsTransl Pediatr 2021; 10: 1369-1376DOI: 10.21037/tp-21-12 AbstractJuvenile polyposis/hereditary hemorrhagic telangiectasia (JPS/HHT) syndrome is a rare, autosomal dominant disorder caused by mutations in the SMAD4 gene,

Case report of juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome: first report in Korea with a novel mutation in the SMAD4 gene Read More »

Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an “HHT-like” syndrome in children

Joshua Hodgson, Lidia Ruiz- Llorente, Jamie McDonald, Oliver Quarrell, Kelechi Ugonna, James Bentham, Rebecca Mason, Jennifer Martin, David Moore, Katie Bergstrom, Pinar Bayrak- Toydemir, Whitney Wooderchak-Donahue, Nicholas W. Morrell, Robin Condliffe, Carmelo Bernabeu, Paul D. UptonUniversity of Cambridge. Centro de Investigaciones Biológicas Margarita Salas, Consejo Superior de Investigaciones Científicas (CSIC), and Centro de Investigación Biomédica en Red de Enfermedades Raras. University of Alcalá, Madrid. University of Utah. Sheffield Children’s Hospital. Leeds

Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an “HHT-like” syndrome in children Read More »

Hepatopulmonary Syndrome and Multiple Arteriovenous Fistulas in a Child with Niemann-Pick Disease

Zeynep Reyhan Onay, Tugba Ramasli Gursoy, Ayse Tana Aslan, Tugba Sismanlar Eyuboglu, Koray AkkanGazi University. Turkey Pediatric Allergy Immunology and PulmonologyPediatr Allergy Immunol Pulmonol 2021; 34: 30-32DOI: 10.1089/ped.2020.1244 AbstractBackground: Niemann-Pick disease (NPD) is caused by abnormal storage of sphingomyelin. NPD may affect the pulmonary system and cause hypoxia. In the present case, both hepatopulmonary syndrome (HPS) and

Hepatopulmonary Syndrome and Multiple Arteriovenous Fistulas in a Child with Niemann-Pick Disease Read More »

Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia

Kana Kitayama, Tomoya Ishiguro, Masaki Komiyama, Takayuki Morisaki, Hiroko Morisaki, Gaku Minase, Kohei Hamanaka, Satoko Miyatake, Naomichi Matsumoto, Masaru Kato, Toru Takahashi and Tohru YorifujiChildren’s Medical Center and Osaka City General Hospital. The University of Tokyo. National Cerebral and Cardiovascular Center. Sakakibara Heart Institute. Yokohama City University Graduate School of Medicine. Japan BioMed Central Medical

Mutational and clinical spectrum of Japanese patients with hereditary hemorrhagic telangiectasia Read More »

Pulmonary arteriovenous malformation with unexplained cyanosis as the first presentation of hereditary haemorrhagic telangiectasia, case report, and literature review

Ali Alakhfash, Abdullah Alqwaiee, Abdulrahman Almesned, Zuhair N. Al-HassnanPrince Sultan cardiac Center-Qassim. Sapienza Università di Roma. King Faisal Specialist Hospital & Research Centre. Saudi Arabia and Italy European Heart Journal Case ReportsEur Heart J Case Rep 2021; 22: DOI: 10.1093/ehjcr/ytab261 AbstractBackground: Pulmonary arteriovenous malformations (PAVMs) are rare pulmonary vascular anomalies. They can result in right-to-left shunt and,

Pulmonary arteriovenous malformation with unexplained cyanosis as the first presentation of hereditary haemorrhagic telangiectasia, case report, and literature review Read More »

Outcomes in Patients with Alagille Syndrome and Complex Pulmonary Artery Disease

Roger Luong, Jeffrey A. Feinstein, Michael Ma, Noelle H. Ebel, Lisa Wise-Faberowski, Yulin Zhang, Lynn F. Peng, Vamsi V. Yarlagadda, Jennifer Shek, Frank L. Hanley, Doff B. McElhinneyLucille Packard Children’s Hospital Stanford and Stanford University. United States Journal of PediatricsJ Pediatr 2021; 229: 86-94DOI: 10.1016/j.jpeds.2020.09.053 AbstractObjective: To assess outcomes in a large cohort of patients with Alagille

Outcomes in Patients with Alagille Syndrome and Complex Pulmonary Artery Disease Read More »

Scroll to Top