TITLE

Yield of Genetic Testing in Hypertrophic Cardiomyopathy

AUTHOR(S)
van Driest, Sara L.; Ommen, Steve R.; Tajik, A. Jamil; Gersh, Bernard J.; Ackerman, Michael J.
PUB. DATE
June 2005
SOURCE
Mayo Clinic Proceedings;Jun2005, Vol. 80 Issue 6, p739
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
OBJECTIVE: To determine the clinical parameters of hypertrophic cardiomyopathy (HCM) that correlated significantly with the presence of an identifiable sarcomeric mutation. PATIENTS AND METHODS: Previous comprehensive mutational analyses of all protein-coding exons of 8 sarcomeric genes revealed pathogenic mutations in 147 (38%) of 389 unrelated patients seen at the HCM outpatient clinic at the Mayo Clinic in Rochester, Minn, between April 1997 and December 2001. Clinical data, extracted from patient records and blinded to patient genotype, were maintained in a custom database. RESULTS: In 389 unrelated patients, younger age at diagnosis, family history of HCM, and increasing left ventricular wall thickness were all associated with increased likelihood of identifying an HCM-associated sarcomeric mutation. In contrast, family history of sudden cardiac death, myectomy status, and anatomical subtype did not correlate significantly with genotype-positive status. With use of a simple scoring system based on age at diagnosis, left ventricular wall thickness, and family history of HCM, the likelihood of a sarcomeric mutation could be estimated. CONCLUSION: Clinical predictors of positive genotype, such as the presence of an implantable cardioverter-defibrillator, age at diagnosis, degree of left ventricular wall hypertrophy, and family history of HCM, may aid in patient selection for genetic testing and increase the yield of cardiac sarcomere gene screening.
ACCESSION #
17340465

 

Related Articles

  • Systolic Heart Failure in a Patient With Hypertrophic Obstructive Cardiomyopathy. Whitten, Shannon Etheridge // Critical Care Nurse;Oct2008, Vol. 28 Issue 5, p44 

    The article offers information on hypertrophic obstructive cardiomyopathy, a genetically transmitted disease. Complications of the disease include heart failure, atrial and ventricular arrhythmia and sudden cardiac death. Options for patients who do not respond to medication like percutaneous...

  • High prevalence of Arginine to Glutamine Substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians. Selvi Rani, Deepa; Nallari, Pratibha; Priyamvada, Singh; Narasimhan, Calambur; Singh, Lalji; Thangaraj, Thangaraj // BMC Medical Genetics;2012, Vol. 13 Issue 1, p69 

    Background: Troponin I (TNNI3) is the inhibitory subunit of the thin filament regulatory complex Troponin, which confers calcium-sensitivity to striated muscle actomyosin ATPase activity. Mutations (2-7%) in this gene had been reported in hypertrophic cardiomyopathy patients (HCM). However, the...

  • Cirrhotic cardiomyopathy. Soon Koo Baik; Fouad, Tamer R.; Lee, Samuel S. // Orphanet Journal of Rare Diseases;2007, Vol. 2, p15 

    Cirrhotic cardiomyopathy is the term used to describe a constellation of features indicative of abnormal heart structure and function in patients with cirrhosis. These include systolic and diastolic dysfunction, electrophysiological changes, and macroscopic and microscopic structural changes....

  • Role of sodium-hydrogen exchange in cardiac hypertrophy and heart failure: a novel and promising therapeutic target. Karmazyn, Morris // Basic Research in Cardiology;Jul2001, Vol. 96 Issue 4, p325 

    The myocardial sodium-hydrogen exchanger (NHE), and more specifically the NHE-1 isoform is now well-recognized to be a major contributor to ischemic and reperfusion injury. Recent evidence suggests that NHE-1 is also potential candidate for targeted intervention in terms of attenuation of the...

  • Large-scale mutation screening in patients with dilated or hypertrophic cardiomyopathy: a pilot study using DGGE. Zeller, Raphael; Ivandic, Boris; Ehlermann, Philipp; Mücke, Oliver; Zugck, Christian; Remppis, Andrew; Giannitsis, Evangelos; Katus, Hugo; Weichenhan, Dieter // Journal of Molecular Medicine;Aug2006, Vol. 84 Issue 8, p682 

    Cardiomyopathies are complex myocardial diseases characterized by inappropriate ventricular hypertrophy (HCM) or dilation (DCM). Both disorders may lead to sudden death or progressive heart failure and exhibit familial aggregation with marked genetic heterogeneity. Many candidate genes were...

  • CODING FOR CARDIOMYOPATHY.  // For the Record (Great Valley Publishing Company, Inc.);5/23/2011, Vol. 23 Issue 10, p27 

    The article focuses on the coding for the genetic disorder cardiomyopathy in the International Classification of Diseases (ICD). Cardiomyopathy is a progressive disease of the heart muscle and it may result in heart failure, blood clots and cardiac arrest. It is of three types including dilated...

  • Almanac 2011: Cardiomyopathies. Elliott, Perry M.; Mohiddin, Saidi A. // Kardio List;Jan2012, Vol. 7 Issue 1/2, p14 

    The article offers clinical information on cardiomyopathies, myocardial disorders in which the heart muscle is structurally and functionally abnormal but without coronary artery disease, hypertension or valvular disease. It defines hypertrophic cardiomyopathy (HCM), sudden cardiac death,...

  • Prevalence of scarred and dysfunctional myocardium in patients with heart failure of ischaemic origin: A cardiovascular magnetic resonance study.  // Journal of Cardiovascular Magnetic Resonance (BioMed Central);2011, Vol. 13 Issue 1, p53 

    The article presents a study focusing on the prevalence of scarred and dysfunctional myocardium in patients with heart failure of ischaemic origin. As stated, in the study conducted on patients with left ventricular systolic dysfunction and ischaemic heart disease, about half of all segments had...

  • An unusual case of giant cell myocarditis missed in a Heartmate-2 left ventricle apical-wedge section: a case report and review of the literature. Anderson, Kim; Carrier, Michel; Romeo, Philippe; Pelletier, Guy B.; Liszkowski, Mark; Racine, Normand; White, Michel; Ducharme, Anique // Journal of Cardiothoracic Surgery;2013, Vol. 8 Issue 1, p1 

    Herein we present a case of fulminant myocarditis in a woman previously treated for B-cell lymphoma. While the clinical context was suggestive of adriamycin-induced cardiomyopathy, the initial pathology of the Heartmate-2 apical core showed lymphocytic myocarditis. After 8 months of stability,...

Share

Read the Article

Courtesy of VIRGINIA BEACH PUBLIC LIBRARY AND SYSTEM

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

Try another library?
Sign out of this library

Other Topics