Genetic Factors Associated With Pulmonary Vascular Disease Archives

Registry-based estimation of cardiac event-free survival in congenital heart disease complicated by pulmonary hypertension: A nationwide registry study from Japan

Taku Ishii, Tatsuhiko Anzai, Keiko Uchida, Susumu Hosokawa, Naofumi F. Sumitomo, Hidekazu Ishida, Keiichi Hirono, Jun Muneuchi, Ayako Chida-Nagai, Ryo Inuzuka, Hirofumi Sawada, Sayo Suzuki, Jun Maeda, Hisaaki Aoki, Lisheng Lin, Takashi Murakami, Yusuke Nakano, Tatsuya Onishi, Takuya Wakamiya, Kei Inai, Shinichi Takatsuki, Atsushi Yao, Shigetoyo Kogaki, Hiroyuki Fukushima, Yuichi Tamura, Kunihiko Takahashi, Hiroyuki Yamagishi, […]

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ABO Incongruency Increases Risk for Necrotizing Enterocolitis in Preterm Neonates

Jeremy A. Sandgren, Numra A. Aleem, J. Brooks Jackson, Jennifer R. Bermick, Timothy J. BolyUniversity of Iowa.United States Transfusion Medicine and HemotherapyTranfus Med Hemother 2026; DOI: 10.1159/000551548 AbstractIntroduction: Preterm neonates are at high risk for complications, and inflammation has been implicated in many of these pathologies. ABO incongruency occurs when the maternal and neonatal blood types are

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Association between upper airway obstruction and pulmonary hypertension in children with Down syndrome

Kevin Guy, Amal IsaiahUniversity of Maryland School of Medicine.United States Current Opinion in Pulmonary MedicineCurr Opin Pulm Med 2026; DOI: 10.1097/MCP.0000000000001287 AbstractPurpose of review: Down syndrome (DS) is the most common nonlethal chromosomal aneuploidy, affecting 1 in 700 live births. Pulmonary hypertension (PH) occurs in approximately 25% of children with DS and contributes to a 10% mortality

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A Rare Case of Multi-System Involvement and Hereditary Pulmonary Hypertension Caused by De Novo Heterozygous CAV1 Mutation in a Pediatric Patient

Yan Sun, Qingyou Zhang, Yaqian Huang, Xueqin LiuPeking University First Hospital.China ChildrenChildren 2026; 13: DOI: 10.3390/children13050694 AbstractBackground: Pulmonary arterial hypertension is a rare but life-threatening condition in children, with hereditary forms often being linked to mutations in genes such as bone morphogenetic protein receptor type 2 (BMPR2), caveolin 1 (CAV1), and potassium channel subfamily K member

A Rare Case of Multi-System Involvement and Hereditary Pulmonary Hypertension Caused by De Novo Heterozygous CAV1 Mutation in a Pediatric Patient Read More »

Variation in SNX29 and Acute Vasodilator Response in Pulmonary Arterial Hypertension

Jason H. Karnes, Changlei Bao, Shuxin Liang, Timothy Thayer, John Zagorski, Samisubbu R. Naidu, James D. West, Rae-Hwi Schwantes-An, Ehsan Khajouei, Kasturi Banerjee, Hemant K. Tiwari, Juvie Farol, Kiana L. Martinez, Dingyuan Liu, Yao Ning, Yanan Sun, Yangfan Jia, Jian Wang, Amit Arora, Ken Batai, Stephen J. Halliday, Katie Lutz, Anna Walsworth, Andrea L. Frump,

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The preponderance of genetic variations in paediatric pulmonary hypertension

Julien Grynblat, Melanie Eyries, Marine Ambar-Akkaoui, Marilyne Levy, Mathilde Meot, Isabelle Szezepanski, Julien Ranchoup, Alessia Callegari, Julie Karila-Cohen, Caroline Bonnet, Pierre Marijon, Jerome Champ, Florence Coulet, Caroline Ovaert, Frederic Perros, Fabrice Antigny, Pascale Maragnes, Guy Vaksmann, Marc Humbert, Sophie Guiti Malekzadeh Milani, David Montani Damien BonnetHôpital Necker-Enfants malades, AP-HP, Université de Paris Cité, Université Paris-Saclay,

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CES1 Deficiency is Associated With Metabolic Reprograming and Endothelial Dysfunction in Pulmonary Arterial Hypertension

Stuti Agarwal, Anuradha Bankar, Lyong Heo, Ankita Mitra, Ananya Chakraborty, Lichao Liu, Flora Huang, Gowri Swaminathan, Natasha Auer, Prakash Chelladurai, Eleana Stephanie Guardado, Juan Matos, Crystal Le, James West, Karthik Suresh, Ramesh Nair, Marlene Rabinovitch, Christophe Morisseau, Bruce D Hammock, Joseph Wu, Zolt Arany, Mark R Nicolls, Vinicio de Jesus PerezStanford Center for Genomics and

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Incidence of Newborns with Down Syndrome and Factors Associated with Their Length of Hospital Stay in Hospital Pakar Universiti Sains Malaysia

Muhammad Zul Hilmi Muhammad Zain, Ariffin Nasir, Najib Majdi Yaacob, Nor Rosidah IbrahimUniversiti Sains Malaysia. Malaysia Malaysian Journal of Medical SciencesMalays J Med Sci 2025; 32: 203-211DOI: 10.21315/mjms-10-2024-838 AbstractBackground: Down syndrome (DS) is the most common chromosomal disorder worldwide. This study aimed to analyse the incidence of newborns with DS in a tertiary centre in the East

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A child with cobalamin C deficiency caused by complex heterozygous variation of c.567dupT and c.80A > G complicated with pulmonary arterial hypertension and hydrocephalus: A case report and literature review

Cui, Xuxia, Zhong, Yajing, Yin, ChongjuanFirst Hospital of Shanxi Medical University.China MedicineMedicine 2026; 105: DOI: 10.1097/MD.0000000000048340 AbstractRationale: Cobalamin C (cblC) deficiency is one of the most common congenital vitamin B12 metabolic abnormalities, and may cause severe neurologic symptoms, gastrointestinal and nephritic symptoms.Patient concerns: A 9-month-old boy presented with a 10-day history of progressive dyspnea and weak cough, accompanied by

A child with cobalamin C deficiency caused by complex heterozygous variation of c.567dupT and c.80A > G complicated with pulmonary arterial hypertension and hydrocephalus: A case report and literature review Read More »