Literature DB >> 1597356

Familial cardiomyopathy with variable hypertrophic and restrictive features and common HLA haplotype.

S Feld1, A Caspi.   

Abstract

We describe a familial cardiomyopathy affecting three generations of family members with similar electrocardiographic abnormalities and human leukocyte antigen (HLA) haplotype. Autopsy findings in two of our patients were diagnostic of hypertrophic cardiomyopathy, although surviving affected members do not show ventricular hypertrophy on echocardiography. One patient's echocardiogram revealed giant atria in the absence of ventricular hypertrophy, suggesting a restrictive form of cardiomyopathy. In this kindred, an HLA haplotype appearing in affected, but not in healthy, family members may predict occurrence of disease during its presymptomatic phase in subsequent generations.

Entities:  

Mesh:

Substances:

Year:  1992        PMID: 1597356

Source DB:  PubMed          Journal:  Isr J Med Sci        ISSN: 0021-2180


  6 in total

Review 1.  Extracardiac medical and neuromuscular implications in restrictive cardiomyopathy.

Authors:  Claudia Stöllberger; Josef Finsterer
Journal:  Clin Cardiol       Date:  2007-08       Impact factor: 2.882

2.  Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.

Authors:  Jens Mogensen; Toru Kubo; Mauricio Duque; William Uribe; Anthony Shaw; Ross Murphy; Juan R Gimeno; Perry Elliott; William J McKenna
Journal:  J Clin Invest       Date:  2003-01       Impact factor: 14.808

Review 3.  Cardiac troponin mutations and restrictive cardiomyopathy.

Authors:  Michelle S Parvatiyar; Jose Renato Pinto; David Dweck; James D Potter
Journal:  J Biomed Biotechnol       Date:  2010-06-08

Review 4.  Pediatric cardiomyopathies: causes, epidemiology, clinical course, preventive strategies and therapies.

Authors:  Steven E Lipshultz; Thomas R Cochran; David A Briston; Stefanie R Brown; Peter J Sambatakos; Tracie L Miller; Adriana A Carrillo; Liat Corcia; Janine E Sanchez; Melissa B Diamond; Michael Freundlich; Danielle Harake; Tamara Gayle; William G Harmon; Paolo G Rusconi; Satinder K Sandhu; James D Wilkinson
Journal:  Future Cardiol       Date:  2013-11

5.  A Rare Case of Pregnancy with Restrictive Cardiomyopathy.

Authors:  U Ashwini Nayak; Saketh P Shekhar; N Sundari
Journal:  J Cardiovasc Echogr       Date:  2016 Apr-Jun

6.  Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing.

Authors:  Anna Kostareva; Artem Kiselev; Alexandra Gudkova; Goar Frishman; Andreas Ruepp; Dmitrij Frishman; Natalia Smolina; Svetlana Tarnovskaya; Daniel Nilsson; Anna Zlotina; Tatiana Khodyuchenko; Tatiana Vershinina; Tatiana Pervunina; Alexandra Klyushina; Andrey Kozlenok; Gunnar Sjoberg; Irina Golovljova; Thomas Sejersen; Eugeniy Shlyakhto
Journal:  PLoS One       Date:  2016-09-23       Impact factor: 3.240

  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.