Results 111 to 120 of about 397,641 (267)

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source

Genetically engineered biomimetic ATP-responsive nanozyme for the treatment of cardiac fibrosis

Journal of Nanobiotechnology
Background Cardiac fibrosis plays a critical role in the progression of various forms of heart disease, significantly increasing the risk of sudden cardiac death.
Xueli Zhao, Yuze Qin, Bowen Li, Yue Wang, Jiao Liu, Bo Wang, Jia Zhao, Jiaqi Yin, Lanlan Zhang, Jing Li, Junzhe Huang, Kun Chen, Liwen Liu, Yuanming Wu   +13 more
doaj   +1 more source

Is arrhythmogenic right ventricular cardiomyopathy a paediatric problem too? [PDF]

, 2001
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that is often familial, characterized by arrhythmias of right ventricular origin, due to transmural fatty or fibrofatty replacement of atrophic myocardium. ARVC is usually
Basso, Cristina, Daliento, Luciano, Nava, Alessandra, Thiene, Gaetano, Turrini, P.   +4 more
core  

An Early Holiday Surprise: Cholecystitis Wrapped in Takotsubo Cardiomyopathy [PDF]

, 2020
This is a novel case report of a 44-year-old woman who presented to the emergency department with epigastric pain wrapping around to her back. She had no risk factors for cardiac disease, but her initial electrocardiogram (ECG) showed a Wellens syndrome ...
Gould, Kevin, Miller, Stephen, Moll, Joel   +2 more
core  

Expanding the Phenotype of TAB2‐Related Syndrome: The First Case With Cleft Palate and Insights Into Palatal Development

American Journal of Medical Genetics Part A, EarlyView.
Alberto De Rosa, Silvia Kalantari, Marta Carboni, Antonella Casella, Elisa Giorgio, Antonia Apicella, Alessia Claudia Codazzi, Fabio Sirchia   +7 more
wiley   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Is Hypertrophic Cardiomyopathy Always a Familial and Inherited Disease?

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2023
Jiri Bonaventura, Ethan J. Rowin, Martin S. Maron, Barry J. Maron   +3 more
doaj   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Resolution of Refractory Multifocal Atrial Tachycardia in Costello Syndrome Using Trametinib: A Case Supporting MEK Inhibitors as Targeted, Specific Antiarrhythmic

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio, Annabelle Wilcox, Stacey Cole, Josue Flores Daboub, José E. Morales Moreno, Kasey G. Andrews, S. Yukiko Asaki, Thomas A. Pilcher, Martin Tristani‐Firouzi, Mary C. Niu, David Viskochil, Benjamin Hammond   +11 more
wiley   +1 more source

Outcomes After Repeat Alcohol Septal Ablation in Patients With Obstructive Hypertrophic Cardiomyopathy

JACC: Advances
Background: Alcohol septal ablation (ASA) may necessitate a repeat procedure if the obstructive myocardium is not sufficiently ablated; however, the outcomes after repeat ASA are not well studied.
Takashi Hiruma, MD, Mitsunobu Kitamura, MD, Itaru Takamisawa, MD, Ryo Abe, MD, Tosei Kawai, MD, Takashi Funaki, MD, Yuki Izumi, MD, Ryosuke Higuchi, MD, Junya Matsuda, MD, Yukichi Tokita, MD, Mamoru Nanasato, MD, Nobuo Iguchi, MD, Tomohiro Iwakura, MD, Tomoki Shimokawa, MD, Shuichiro Takanashi, MD, Hiroo Takayama, MD, PhD, Yuichi J. Shimada, MD, MPH, Hitoshi Takano, MD, Kuniya Asai, MD, Mitsuaki Isobe, MD, Morimasa Takayama, MD   +20 more
doaj   +1 more source