Results 1 to 10 of about 35 (34)

Identification and functional analysis of a novel de novo missense mutation located in the initiation codon of LAMP2 associated with early onset female Danon disease. [PDF]

Mol Genet Genomic Med, 2023
We report a novel initiation codon mutation associated with Danon disease in young women. Through identification and functional analysis, our results indicate that the mutation is null and that the X chromosome inactive state affects the expression of the mutant transcript, which is responsible for early‐onset cardiomyopathy in this patient.
Wang Y, Bai M, Zhang P, Peng Y, Chen Z, He Z, Xu J, Zhu Y, Yan D, Wang R, Zhang Z.   +10 more
europepmc   +2 more sources

Sindrom Wolff Parkinson White

Sari Pediatri, 2016
Dilaporkan satu kasus sindrom Wolff-Parkinson-White pada anak laki-laki usia 9 tahun yang datang dengan keluhan utama palpitasi disertai nyeri dada. Elektrokardiogram pada awal masuk rumah sakit memperlihatkan frekuensi QRS 231 kali per menit (N : 60-100
Sri Endah Rahayuningsih
doaj   +1 more source

Risk Factors Associated With Ventricular Dysfunction in Wolff‐Parkinson‐White Syndrome

CJC Pediatric &Congenital Heart Disease, Volume 4, Issue 1, Page 10-16, February 2025.
Abstract Background Wolff‐Parkinson‐White (WPW) syndrome is associated with ventricular dysfunction in the absence of sustained tachyarrhythmias. Our aim was to determine the prevalence of ventricular dysfunction and to assess risk factors associated with this condition.
Hiroko Asakai, Sharmila Udupa, Christine Chiu‐Man, Elizabeth A. Stephenson   +3 more
wiley   +1 more source

Combined Effects of Age and Comorbidities on Electrocardiographic Parameters in a Large Non-Selected Population. [PDF]

J Clin Med, 2022
Giovanardi P, Vernia C, Tincani E, Giberti C, Silipo F, Fabbo A.   +5 more
europepmc   +1 more source

Effects of Dexmedetomidine on Basic Cardiac Electrophysiology in Adults; a Descriptive Review and a Prospective Case Study. [PDF]

Pharmaceuticals (Basel), 2022
Pöyhiä R, Nieminen T, Tuompo VWT, Parikka H.   +3 more
europepmc   +1 more source

Clinical aspects of myocardial fibrosis in adults with Ebstein's anomaly. [PDF]

Heart Vessels, 2018
Ciepłucha A, Trojnarska O, Kociemba A, Łanocha M, Barczynski M, Rozmiarek S, Kramer L, Pyda M.   +7 more
europepmc   +1 more source

Abstracts of the 3^rd Annual Scientific Meeting Indonesian Heart Rhythm Society, October 23 - 24, 2015. [PDF]

ASEAN Heart J, 2015
ASEAN Federation of Cardiology.
europepmc   +1 more source

Epicardially derived fibroblasts preferentially contribute to the parietal leaflets of the atrioventricular valves in the murine heart. [PDF]

Dev Biol, 2012
Wessels A, van den Hoff MJ, Adamo RF, Phelps AL, Lockhart MM, Sauls K, Briggs LE, Norris RA, van Wijk B, Perez-Pomares JM, Dettman RW, Burch JB.   +11 more
europepmc   +1 more source

Mulibrey nanism: clinical features and diagnostic criteria. [PDF]

J Med Genet, 2004
Karlberg N, Jalanko H, Perheentupa J, Lipsanen-Nyman M.   +3 more
europepmc   +1 more source

Rare Variant in <i>MRC2</i> Associated With Familial Supraventricular Tachycardia and Wolff-Parkinson-White Syndrome. [PDF]

Circ Genom Precis Med
Potter AS, Miyake CY, Gonzaga-Jauregui C, Aguilar-Sanchez Y, Hulsurkar MM, Lahiri SK, Moreira LM, Mehta N, Azamian MS, Lupski JR, Reilly S, Lalani SR, Wehrens XHT.   +12 more
europepmc   +1 more source