Article
Genetics & Heredity
Doris Skoric-Milosavljevic, Najim Lahrouchi, Fernanda M. Bosada, Gregor Dombrowsky, Simon G. Williams, Robert Lesurf, Fleur V. Y. Tjong, Roddy Walsh, Ihssane El Bouchikhi, Jeroen Breckpot, Enrique Audain, Aho Ilgun, Leander Beekman, Ilham Ratbi, Alanna Strong, Maximilian Muenke, Solveig Heide, Alison M. Muir, Mariam Hababa, Laura Cross, Dihong Zhou, Tomi Pastinen, Elaine Zackai, Samir Atmani, Karim Ouldim, Najlae Adadi, Katharina Steindl, Anita Rauch, David Brook, Anna Wilsdon, Irene Kuipers, Nico A. Blom, Barbara J. Mulder, Heather C. Mefford, Boris Keren, Pascal Joset, Paul Kruszka, Isabelle Thiffault, Sarah E. Sheppard, Amy Roberts, Elisabeth M. Lodder, Bernard D. Keavney, Sally-Ann B. Clur, Seema Mital, Marc-Philip Hitz, Vincent M. Christoffels, Alex V. Postma, Connie R. Bezzina
Summary: Rare genetic variants in KDR, particularly protein-truncating variants (PTVs), are strongly associated with TOF, likely playing a role in the pathogenesis of the disease in different inheritance patterns.
GENETICS IN MEDICINE
(2021)
Article
Pediatrics
Amara Majeed, Valerie Rofeberg, David C. Bellinger, David Wypij, Jane W. Newburger
Summary: This study aimed to identify predictors of impaired executive function in adolescents who underwent surgical repair for critical congenital heart disease (CHD). It was found that family social class and factors such as low birth weight and a greater number of catheterizations predicted lower executive function scores. These findings highlight the importance of social class in mitigating the risks of executive dysfunction in CHD patients.
JOURNAL OF PEDIATRICS
(2022)
Article
Cardiac & Cardiovascular Systems
Graziella Eshuis, Julia Hock, Gideon Marchie du Sarvaas, Hiske van Duinen, Rhoia Neidenbach, Freek van den Heuvel, Hans Hillege, Rolf M. F. Berger, Alfred Hager
Summary: This study aimed to provide a perspective for the interpretation of exercise capacity in patients with repaired Tetralogy of Fallot by describing the course of peakVO(2) from patients aged 6-63 years. The peakVO(2) of patients with rTOF was reduced at all ages, originating from childhood and declining over time. Sex differences in patients with rTOF were similar to natural existing sex differences.
Article
Pediatrics
Olga Gomez, Laura Nogue, Iris Soveral, Laura Guirado, Nora Izquierdo, Miriam Perez-Cruz, Narcis Masoller, Maria Clara Escobar, Joan Sanchez-de-Toledo, Josep Maria Martinez-Crespo, Mar Bennasar, Fatima Crispi
Summary: This study reveals that fetuses with tetralogy of Fallot (ToF) have significantly increased cord blood concentrations of transforming growth factor beta (TGFβ) and that TGFβ levels are correlated with the severity of right ventricle outflow obstruction. These findings provide new opportunities for research on prognostic and preventive strategies.
FRONTIERS IN PEDIATRICS
(2023)
Article
Medicine, General & Internal
Christopher DeZorzi, Anais Marenco, Anne Marie Valente
Summary: Tricuspid regurgitation is a significant finding in patients who have undergone repair for tetralogy of Fallot, and it can have primary or secondary causes. Moderate or severe tricuspid regurgitation is associated with a higher occurrence of atrial tachyarrhythmias in these patients. The optimal timing for tricuspid valve intervention during pulmonary valve replacement in repaired tetralogy of Fallot patients remains uncertain.
JOURNAL OF CLINICAL MEDICINE
(2023)
Review
Cardiac & Cardiovascular Systems
Lasya Gaur, Ari Cedars, Gerhard Paul Diller, Shelby Kutty, Stefan Orwat
Summary: Survivors of dextro-transposition of the great arteries (D-TGA) have vastly different postsurgical anatomy, requiring specialized imaging techniques and interventions for comprehensive care.
Article
Cardiac & Cardiovascular Systems
Bryan H. Goldstein, Christopher J. Petit, Athar M. Qureshi, Courtney E. McCracken, Michael S. Kelleman, George T. Nicholson, Mark A. Law, Jeffery J. Meadows, Jeffrey D. Zampi, Shabana Shahanavaz, Christopher E. Mascio, Paul J. Chai, Jennifer C. Romano, Sarosh P. Batlivala, Shiraz A. Maskatia, Ivor B. Asztalos, Alicia M. Kamsheh, Steven J. Healan, Justin D. Smith, R. Allen Ligon, Joelle A. Pettus, Sarina Juma, James E. B. Raulston, Krissie M. Hock, Amy L. Pajk, Lindsay F. Eilers, Hala Q. Khan, Taylor C. Merritt, Matthew Canter, Stephan Juergensen, Fatuma-Ayaan Rinderknecht, Holly Bauser-Heaton, Andrew C. Glatz
Summary: In this multicenter comparison of staged repair (SR) and primary repair (PR) for neonates with symptomatic tetralogy of Fallot (sTOF), early mortality and neonatal morbidity were lower in the SR group, while cumulative morbidity and reinterventions favored the PR group, suggesting potential benefits to each strategy.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2021)
Article
Medical Laboratory Technology
Wei Wang, Hao Cui, Gao Ran, Chuhao Du, Xiao Chen, Shuo Dong, Siyuan Huang, Jun Yan, Junmin Chu, Jiangping Song
Summary: This study investigated the plasma metabolic profiles to identify key metabolites for early diagnosis of Tetralogy of Fallot (TOF), a common congenital heart disease. The researchers found significant metabolic differences between TOF patients and normal controls, specifically in nicotinamide and purine metabolism pathways. The study suggests that plasma FAD could serve as a highly valuable biomarker for differentiating TOF from normal. These findings contribute to the development of reliable biomarkers and improving early screening for TOF.
CLINICA CHIMICA ACTA
(2023)
Review
Physiology
Nouf J. Althali, Kathryn E. Hentges
Summary: Congenital heart defects refer to structural abnormalities of the heart or blood vessels present at birth, affecting approximately 1% of newborns worldwide. Tetralogy of Fallot is the most common cyanotic congenital heart abnormality, accounting for 5-10% of all congenital cardiac defects. While some cases of TOF are associated with known diseases or chromosomal abnormalities, the majority are non-syndromic and have unknown causes.
FRONTIERS IN PHYSIOLOGY
(2022)
Article
Genetics & Heredity
Omobola O. Oluwafemi, Fadi Musfee, Laura E. Mitchell, Elizabeth Goldmuntz, Hongbo M. Xie, Hakon Hakonarson, Bernice E. Morrow, Tingwei Guo, Deanne M. Taylor, Donna M. McDonald-McGinn, Beverly S. Emanuel, A. J. Agopian
Summary: In this study, no significant association was found between individuals with and without 22q11.2 deletions in terms of shared genomic mechanisms for CTD-NRGVs. However, several genes related to cardiogenesis were identified as potential candidates for future research.
Article
Genetics & Heredity
Nuha Alrayes, Bayan A. Mallah, Noha M. Issa, Babajan Banaganapalli, Noor Ahmad Shaik, Khalidah K. Nasser, Bandar Ali Alshehri, Zahurul A. Bhuiyan, Amnah Y. Bdier, Jumana Y. Al-Aama
Summary: The study identified a novel heterozygous de novo mutation in the LRP1 gene in TOF patients in Saudi Arabia. This mutation was predicted to be pathogenic and affects the structure and function of the protein. Functional biology data from knock out mouse models confirmed the association of this gene mutation with cardiac defects and lethality. The findings contribute to accurate diagnosis and understanding of the molecular mechanisms and pathophysiology of TOF.
Article
Cardiac & Cardiovascular Systems
Drayton C. Harvey, Riya Verma, Brandon Sedaghat, Brooke E. Hjelm, Sarah U. Morton, Jon G. Seidman, S. Ram Kumar
Summary: The study identified key genes and biological processes involved in the pathogenesis of non-syndromic TOF, highlighting the importance of molecular defects in cardiac progenitor cells and genes related to their viability and function. The findings have implications for personalized clinical care of TOF patients.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2023)
Article
Cardiac & Cardiovascular Systems
Jouke P. Bokma, Tal Geva, Lynn A. Sleeper, Ji Hae Lee, Minmin Lu, Tehila Sompolinsky, Sonya V. Babu-Narayan, Rachel M. Wald, Barbara J. M. Mulder, Anne Marie Valente
Summary: The study aimed to determine whether pulmonary valve replacement (PVR) is associated with improved survival and freedom from sustained ventricular tachycardia (VT) in patients with repaired tetralogy of Fallot (rTOF). The results showed that patients who received PVR had a lower risk of death or sustained VT compared to those who did not receive PVR.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2022)
Article
Cardiac & Cardiovascular Systems
Christopher J. Petit, Andrew C. Glatz, Andrew B. Goldstone, Mark A. Law, Jennifer C. Romano, Shiraz A. Maskatia, Paul J. Chai, Jeffrey D. Zampi, Jeffery J. Meadows, George T. Nicholson, Shabana Shahanavaz, Athar M. Qureshi, Courtney E. Mccracken, Christopher E. Mascio, Sarosh P. Batlivala, Ivor B. Asztalos, Steven J. Healan, Justin D. Smith, Joelle A. Pettus, Asaad Beshish, James E. B. Raulston, Krissie M. Hock, Amy L. Pajk, Bryan H. Goldstein
Summary: This study aimed to quantify the impact of hypoplastic pulmonary arteries (hPA) on outcomes in neonates with symptomatic tetralogy of Fallot (sTOF), and measure the impact of management strategy on pulmonary artery (PA) growth. The study included 542 neonates and found that the presence of hPA did not increase the hazard of mortality or reintervention after definitive repair, and the hPA cohort showed superior PA growth.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Eva Havers-Borgersen, Jawad H. Butt, Morten Smerup, Gunnar H. Gislason, Christian Torp-Pedersen, Mathis Groning, Michael Rahbek Schmidt, Lars Sondergaard, Lars Kober, Emil L. Fosbol
Summary: Patients with tetralogy of Fallot (ToF) are at increased risk of infective endocarditis (IE), particularly those who undergo pulmonary valve replacement (PVR). Limited data exist on the long-term risk of IE, but the study confirms an association between PVR and increased incidence of IE.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2021)
