Results 201 to 210 of about 15,555 (263)

Paediatric Restrictive Cardiomyopathy - Diagnosis and Challenges: A report of two cases. [PDF]

Sultan Qaboos Univ Med J
Husain DS, Joshi NP, Al Senaidi KS, Al Riyami H.   +3 more
europepmc   +1 more source

Genetic and Clinical Spectrum of Hereditary Transthyretin Amyloidosis in Brazil

Journal of the Peripheral Nervous System, Volume 31, Issue 1, March 2026.
ABSTRACT Background Transthyretin hereditary amyloidosis (ATTRv) clinical variability has been widely reported, not only across countries and variants but also among families and distinct regions within a single nation. One of the principal challenges in disease management is the accurate determination of age of onset (AOO), which is heterogeneous and ...
Gustavo Maximiano‐Alves, Carolina Lavigne‐Moreira, Marcus Vinicius Simões, Adilson Junior Pinto Galvão, Flavio Henrique Valicelli, Fernando Saraiva Coneglian, Elisa Vegezzi, Pedro Manoel Marques Garibaldi, Pedro José Tomaselli, Andrea Cortese, Wilson Marques Jr   +10 more
wiley   +1 more source

Development and Psychometric Validation of the Spanish Version of the Experience of Living With Chronic Heart Failure—University of Navarra Scale

Nursing &Health Sciences, Volume 28, Issue 1, March 2026.
ABSTRACT Living with chronic heart failure (CHF) implies physical consequences but also alterations in personal identity, family and social roles, and spiritual needs. No patient‐reported outcome measures have been identified to know the meaning of living with CHF for the person.
Maddi Olano‐Lizarraga, Maribel Saracíbar‐Razquin, Amparo Zaragoza‐Salcedo, José Luis Cobo‐Sanchez, Santiago Pérez‐García, Aurora Simón‐Ricart, Pilar Ara‐Lucea, Leticia Jimeno‐San Martín, Montserrat Ducay‐Eguillor, Noelia De La Torre‐Lomas, Jesica Pérez‐Herreros, Nieves Moro‐Tejedor, Luis Guerra‐Sánchez, Laura Cambra‐Vidart, Silvia Salinas‐Urra, Carmen Rodriguez‐Blazquez, Maria João Forjaz, Alba Ayala, Jesús Martín‐Martín   +18 more
wiley   +1 more source

Current Trends in Duchenne Muscular Dystrophy Research and Therapy: 3D Cardiac Modelling

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 1, February 2026.
ABSTRACT Duchenne muscular dystrophy (DMD), caused by dystrophin deficiency, presents a multifaceted challenge that affects both skeletal muscle function and cardiomyocyte homeostasis, causing progressive degeneration and life‐threatening cardiac complications by adolescence.
Marta Przymuszała, Marta Białobrzeska, Józef Dulak, Urszula Florczyk‐Soluch   +3 more
wiley   +1 more source

Subtle echocardiogram findings requiring further investigation: restrictive cardiomyopathy in a rare genetic condition. [PDF]

BMJ Case Rep
Kreinbrook JA, Izzo L, Atkins C, Das S.
europepmc   +1 more source

Insights into restrictive cardiomyopathy from clinical and animal studies

, 2011
Jean-Charles Pierre-Yves, Yuejin Li, Nan Chang-Long, Huang Xu-Pei   +3 more
openalex   +2 more sources

A Genome‐Wide Association Study Reveals Desmoglein‐2 Predominance in Japanese Arrhythmogenic Cardiomyopathy

Journal of Arrhythmia, Volume 42, Issue 1, February 2026.
A GWAS of Japanese arrhythmogenic cardiomyopathy identified a strong signal near DSG2, exceeding the genome‐wide significance of p = 5 × 10–8 (red line). This signal disappeared after excluding carriers of rare DSG2 variants. Stratified analyses indicate that the association reflects a DSG2‐D494A‐mediated synthetic effect driven predominantly by this ...
Taisuke Ishikawa, Kyuto Sonehara, Keiko Sonoda, Kenshi Hayashi, Koichi Kato, Satoshi Nagase, Kengo Kusano, Takeshi Aiba, Minoru Horie, Seiko Ohno, Yukinori Okada, Naomasa Makita   +11 more
wiley   +1 more source

Galectina-3 na Pericardite Constritiva Crônica: Informações Precisas para o Bom Médico

Arquivos Brasileiros de Cardiologia
Wolney de Andrade Martins
doaj   +1 more source

Case Report: Restrictive cardiomyopathy due to a rare mutation in troponin I gene (TNNI3) in a patient. [PDF]

Front Cardiovasc Med
Deng L, Luo L, Zhang M, Guo C, Liu K.
europepmc   +1 more source

ATAD3 duplications bridge mitochondrial diseases and Aicardi–Goutières syndrome

Developmental Medicine &Child Neurology, Volume 68, Issue 2, Page 287-294, February 2026.
ATAD3 locus duplications cause a severe neonatal mitochondrial disorder with neuroimaging features resembling interferonopathies, and suggest a mitochondrial nucleic acid‐triggered interferon response. Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16446 Abstract A recurrent 68‐kb heterozygous duplication of the ATAD3 locus ...
Pauline Planté‐Bordeneuve, Claire‐Marine Bérat, Sylvain Hanein, Cyril Gitiaux, ATAD3 Study Group, Julie Steffann, Isabelle Desguerre, Agnès Rötig, Nathalie Boddaert, Giulia Barcia, Brian Sperelakis‐Beedham, Zahra Assouline, Marie‐Thérèse Abi‐Warde, Rukhshona Abdullazoda, Agnès Guichet, Céline Bris, Aurélien Caux, Marlène Rio, Jérémy Bertrand, Pauline Gaignard, Alice Lepelley, Arnold Munnich, Manuel Schiff, Isabelle Desguerre, Agnès Rötig, Nathalie Boddaert, Giulia Barcia   +26 more
wiley   +1 more source