Results 121 to 130 of about 42,741 (200)

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency

Clinical Genetics, Volume 110, Issue 1, Page 125-130, July 2026.
We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig, Taciane Alegra, Leonardo Martinello da Rosa, Nataniel Floriano Ludwig, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz   +5 more
wiley   +1 more source

Transcatheter aortic valve replacement for severe aortic regurgitation in quadricuspid aortic valve: a case report

Frontiers in Cardiovascular Medicine
A 49-year-old woman with a congenital quadricuspid aortic valve presented in cardiogenic shock due to severe aortic regurgitation. She underwent transfemoral transcatheter aortic valve replacement with a 29 mm self-expanding prosthesis. The procedure was
Abdullah Aljudaibi, Mark Sonbol, Haytham Allaham   +2 more
doaj   +1 more source

Simultaneous transcatheter aortic mitral and tricuspid valve-in-valve implantation

European Heart Journal, 2021
Deguang Feng, Chi Zhang, Jiaxiang Wang, Bin Lin, Yahua Li, Lai Wei   +5 more
openaire   +2 more sources

'Color Doppler stripes’ make it difficult to diagnose the severity of valvular heart diseases: a report of two cases

Cardiovascular Ultrasound
Background Echocardiography remains the reference-standard imaging technique for assessing valvular heart disease (VHD), but artifacts like the ‘color Doppler stripe’ can complicate diagnosis.
Yuichi Baba, Yuri Ochi, Juri Kawaguchi, Azumi Takiishi, Daigo Hirakawa, Toru Kubo, Naohito Yamasaki, Hiroaki Kitaoka   +7 more
doaj   +1 more source

Correction: Clinical outcomes of bicuspid versus tricuspid aortic valve stenosis after transcatheter aortic valve replacement with self‑expandable valves. [PDF]

BMC Cardiovasc Disord, 2023
Jin Q, Chen S, Yang X, Li M, Li W, Zhang X, Zhou D, Lam YY, Ge J.   +8 more
europepmc   +1 more source

Regional wall stress differences on tricuspid aortic valve-associated ascending aortic aneurysms. [PDF]

Interact Cardiovasc Thorac Surg, 2022
Gomez A, Wang Z, Xuan Y, Hope MD, Saloner DA, Guccione JM, Ge L, Tseng EE.   +7 more
europepmc   +1 more source

Bicuspidalization of the Native Tricuspid Aortic Valve: A Porcine in Vivo Model of Bicuspid Aortopathy. [PDF]

Ann Vasc Dis, 2022
Kimura N, Itagaki R, Nakamura M, Tofrizal A, Yatabe M, Yoshizaki T, Kokubo R, Hishikawa S, Kunita S, Adachi H, Misawa Y, Yashiro T, Kawahito K.   +12 more
europepmc   +1 more source

Clinical outcomes of bicuspid versus tricuspid aortic valve stenosis after transcatheter aortic valve replacement with self-expandable valves. [PDF]

BMC Cardiovasc Disord, 2022
Jin Q, Chen S, Yang X, Li M, Li W, Zhang X, Zhou D, Lam YY, Ge J.   +8 more
europepmc   +1 more source

Subclinical Leaflets Thrombosis After Transcatheter Replacement of Bicuspid vs. Tricuspid Aortic Valve. [PDF]

Front Cardiovasc Med, 2021
Zhu G, Fan J, Zhou D, Dai H, Zhu Q, He Y, Guo Y, Wang L, Liu X, Wang J.   +9 more
europepmc   +1 more source

Predictors of calcification distribution in severe tricuspid aortic valve stenosis. [PDF]

Int J Cardiovasc Imaging, 2021
Piayda K, Dannenberg L, Zako S, Maier O, Bosbach G, Polzin A, Afzal S, Jung C, Westenfeld R, Kelm M, Zeus T, Veulemans V.   +11 more
europepmc   +1 more source