TITLE

Apical hypertrophic cardiomyopathy and left ventricular non-compaction: two faces of the same disease

AUTHOR(S)
Monserrat, L.; Barriales-Villa, R.; Hermida-Prieto, N.
PUB. DATE
October 2008
SOURCE
Heart;Oct2008, Vol. 94 Issue 10, p1253
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
The article offers information on the association between apical hypertrophic cardiomyopathy and left ventricular non-compaction. A 15 year old male lost a father to apical hypertrophic cardiomyopathy. His father has a history of congestive heart failure, a left ventricular wall thickness of 28mm, and left atrial hypertrophy. The man had a physical examination at 18 years of age. Genetic testing shows a heterozygous mutation from guanine to adenine at nucleotide 2263 of the ACTC gene.
ACCESSION #
34640360

 

Related Articles

  • High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.  // BMC Medical Genetics;2012, Vol. 13 Issue 1, p17 

    The article offers information on the study conducted by the authors related to the improvisation of genetic diagnosis of hypertrophic cardiomyopathy (HCM), with reference to Portuguese population. It states that HCM is characterized by unexplained left ventricular hypertrophy (LVH) and distinct...

  • Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy. Fassone, Elisa; Taanman, Jan-Willem; Hargreaves, Iain P.; Sebire, Neil J.; Cleary, Maureen A.; Burch, Michael; Rahman, Shamima // Journal of Medical Genetics;Oct2011, Vol. 48 Issue 10, p691 

    Background Hypertrophic cardiomyopathy (HCM) is frequently fatal in infancy. Mitochondrial disease causing infantile HCM is characterised by extreme biochemical and genetic heterogeneity, but deficiency of respiratory chain complex I is observed relatively frequently. Identification of the...

  • Is BRCA 1/2 genetic testing cost effective in the USA?  // PharmacoEconomics & Outcomes News;1/21/2012, Issue 645, p6 

    The article reports on the findings by researchers from the University of Rochester School of Medicine that BRCA 1/2 genetic testing of women at high risk of carrying the BRCS 1 or 2 gene mutations, and treatment of those who test positive, seems to be cost effective compared with no genetic...

  • How genetic tests are done.  // Humanities;Mar/Apr97, Vol. 18 Issue 2, p38 

    Discusses how two types of genetic tests are done. Direct test; Linkage test; Test that recognizes tiny alterations or mutations in the DNA of a gene.

  • Prevalence of HCM and long QT syndrome mutations in young sudden cardiac death-related cases. Allegue, Catarina; Gil, Rocio; Blanco-Verea, Alejandro; Santori, Montserrat; Rodríguez-Calvo, Marisol; Concheiro, Luis; Carracedo, Ángel; Brion, María // International Journal of Legal Medicine;Jul2011, Vol. 125 Issue 4, p565 

    Cardiomyopathies and channelopathies are major causes of sudden cardiac death. The genetic study of these diseases is difficult because of their heterogenic nature not only in their genetic traits but also in their phenotypic expression. The purpose of the present study is the analysis of a wide...

  • Distinguishing hypertrophic cardiomyopathy from athlete's heart: a clinical problem of increasing magnitude and significance. Maron, B. J. // Heart;Nov2005, Vol. 91 Issue 11, p1380 

    This article focuses on distinguishing hypertrophic cardiomyopathy (HCM) from athlete's heart. Interest in athletic field deaths has also accelerated because of the recognition that these catastrophic events are probably more common than previously thought, occur in young people of both sexes...

  • Use and interpretation of genetic tests in cardiovascular genetics. Caleshu, Colleen; Day, Sharlene; Rehm, Heidi L.; Baxter, Samantha // Heart;Oct2010, Vol. 96 Issue 20, p1669 

    The article discusses the use and interpretation of genetic tests in hereditary cardiovascular diseases. It notes the development in understanding of the genetic foundation of many Mendelian forms of cardiovascular disease, including professional society guidelines that call for genetic testing...

  • Gene testing worth it for hypertrophic cardiomyopathy.  // PharmacoEconomics & Outcomes News;1/7/2012, Issue 644, p6 

    The article discusses research on a cost-effectiveness model of genetic testing for the evaluation of families with hypertrophic cardiomyopathy, referencing a study by J. Ingles et al published in the November 29, 2011 issue of "Heart."

  • Use of Genetics in the Clinical Evaluation of Cardiomyopathy. Judge, Daniel P. // JAMA: Journal of the American Medical Association;12/9/2009, Vol. 302 Issue 22, p2471 

    The article discusses the clinical use of genetics to diagnose familial cardiomyopathy. The author notes that the evaluation and diagnosis of familial cardiomyopathy should include the pattern of inheritance within the family and the presence of syndromic features. He presents the clinical cases...

Share

Read the Article

Courtesy of THE LIBRARY OF VIRGINIA

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics