Genetic Factors Associated With Pulmonary Vascular Disease

Williams Syndrome and Neonatal Cardiac Surgery for Congenital Single Ventricle

Taylor E. Katt, Robert L. Spicer, Anji T. Yetman, Ali N. Ibrahimiye, James M. Hammel, Jeffrey A. RobinsonUniversity of Nebraska Medical Center and Children’s Hospital and Medical Center.United States Journal of the American College of Cardiology Case ReportsJACC Case Rep 2020; 2: 1716-1719DOI: 10.1016/j.jaccas.2020.05.098 AbstractWilliams syndrome (WS) is an arteriopathic derangement associated with supravalvular aortic stenosis […]

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A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations

Silvia Souza da Costa, Veniaminn Fishman, Mara Pinheiro, Andre Rodrigueiro, Maria Teresa Sanseverino, Paulo Zielinsky, Claudia M. B. Carvalho, Carla Rosenberg, Ana Cristina Victorino KrepischiUniversity of São Paulo. Siberian Branch of the Russian Academy of Sciences. Uniscience do Brasil. Hospital de Clínicas de Porto Alegre. Pontifícia Universidade Catolica do Rio Grande Do Sul. Federal University

A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations Read More »

Collagen 18A1/Endostatin Expression in the Progression of Right Ventricular Remodeling and Dysfunction in Pulmonary Arterial Hypertension

Anjira S. Ambade, Mario Naranjo, Tijana Tuhy, Rose Yu, Mery Marimoutou, Allen D. Everett, Larissa A. Shimoda, Stefean L. Zimmerman, Ilton M. Cubero Salazar, Catherine E. Simpson, Ryan J. Tedford, Steven Hsu, Paul M. Hassoun, Rachel L. DamicoJohns Hopkins University. Temple University. Johns Hopkins Community Physicians. Institute for In Vitro Sciences Inc. Medical University of

Collagen 18A1/Endostatin Expression in the Progression of Right Ventricular Remodeling and Dysfunction in Pulmonary Arterial Hypertension Read More »

Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant

Andrea Gazzin, Federico Fornari, Marcello Niceta, Chiara Leoni, Maria Lisa Dentici, Diana Carli, Anna Maria Villar, Giulio Calcagni, Elena Banaudi, Stefania Massuras, Simona Cardaropoli, Elena Airulo, Paola Daniele, Emanuele Monda, Giuseppe Limongelli, Chiara Riggi, Giuseppe Zampino, Maria Cristina Digilio, Alessandro De Luca, Marco Tartaglia, Giovanni Battista Ferrero, Alessandro MussaUniversity of Turin. Regina Margherita Children’s Hospital.

Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant Read More »

Phenotypic characterisation of SMAD4 variant carriers

Claire Caillot, Jean-Christophe Saurin, Valérie Hervieu, Marie Faoucher, Julie Reversat, Evelyne Decullier, Gilles Poncet, Sabine Bailly, Sophie Giraud, Sophie Dupuis-GirodFemme-Mère-Enfants Hospital and Hospices Civils de Lyon. Hôpital E. Herriot. Université Claude Bernard Lyon 1. France Journal of Medical GeneticsJ Med Genet 2024; DOI: 10.1136/jmg-2023-109632 AbstractBackground: Both hereditary haemorrhagic telangiectasia (HHT) and juvenile polyposis syndrome (JPS) are known

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Case report of generalized lymphatic dysplasia with PIEZO1 mutation and review of the literature

Wedad Alhazmia, Afnan Qurbana, Essa AlrashidiMaternity and Children Hospital in Makkah. King Saud Medical City in Riyadh.Saudi Arabia Respiratory Medicine Case ReportsRespir Med Case Rep 2023; 44:DOI: 10.1016/j.rmcr.2023.101872 AbstractBackground: The newborn malformation of primary lymphatic dysplasia (PLD), developed primarily due to PIEZO1 gene autosomal recessive mutation, is known to hinder with the lymphatic system action, causing chyle or lymph

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A familial case of alveolar capillary dysplasia with misalignment of the pulmonary veins: the clinicopathological features and unusual glomeruloid endothelial proliferation

Akiko Kitano, Masato Nakaguro, Seiichi Tomotaki, Shintaro Hanaoka, Masahiko Kawai, Akiko Saito, Masahiro Hayakawa, Yoshiyuki Takahashi, Hidenori Kawasaki, Takahiro Yamada, Masahiko Ikeda, Tetsuo Onda, Kazutoshi Cho, Hironori Haga, Atsuko Nakazawa, Sachiko MinamiguchiKyoto University and Kyoto University Hospital. Nagoya University Graduate School of Medicine and Nagoya University Hospital. Hokkaido University Hospital. Saitama Children’s Medical Center.Japan Diagnostic

A familial case of alveolar capillary dysplasia with misalignment of the pulmonary veins: the clinicopathological features and unusual glomeruloid endothelial proliferation Read More »

A homozygous variant in growth and differentiation factor 2 (GDF2) may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis

Sietse M. Aukema, Gerdien A. ten Brinke, Wim Timens, Yvonne J. Vos, Ryan E. Accord, Karianne E. Kraft, Michiel J. Santing, Leonard P. Morssink, Esther Streefland, Cleo C. van Diemen, Elianne JLE Vrijlandt, Christian V. Hulzebos, Wilhelmina S. Kerstjens-FrederikseUniversity of Groningen, University Medical Center Groningen and Beatrix Children’s Hospital. Medical Center Leeuwarden. Netherlands American Journal

A homozygous variant in growth and differentiation factor 2 (GDF2) may cause lymphatic dysplasia with hydrothorax and nonimmune hydrops fetalis Read More »

Severe Lymphatic Disorder and Multifocal Atrial Tachycardia Treated with Trametinib in a Patient with Noonan Syndrome and SOS1 Mutation

Michele Lioncino, Adelaide Fusco, Emanuele Monda, Diego Colonna, Martina Caiazza, Michelina Sibilio, Daniela Magri, Angela Carla Borrelli, Barbara D’Onofrio, Maria Luisa Mazzella, Rossella Colantuono, Maria Rosaria Arienzo, Berardo Sarubbi, Maria Giovanna Russo, Giovanni Chello, Giuseppe LimongelliUniversity of Campania “Luigi Vanvitelli” and Monaldi Hospital. University College of London and St. Bartholomew’s Hospital.Italy and United Kingdom GenesGenes

Severe Lymphatic Disorder and Multifocal Atrial Tachycardia Treated with Trametinib in a Patient with Noonan Syndrome and SOS1 Mutation Read More »

Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease

Kaitlin J. Stanley, Kelsey J. Kalbfleisch, Olivia M. Moran, Rajiv R. Chaturvedi, Maian Roifman, Xin Chen, Roozbeh Manshaei, Nicole Martin, Simina McDermott, Vanda McNiven, Diane Myles-Reid, Lynne E. Nield, Miriam S. Reuter, Marci L. B. Schwartz, Patrick Shannon, Rachel Silver, Cherith Somerville, Ronni Teitelbaum, Laura Zahavich, Anne S. Bassett, Raymond H. Kim, Seema Mital, David

Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease Read More »

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