Yield of Genetic Testing in Hypertrophic Cardiomyopathy

van Driest, Sara L.; Ommen, Steve R.; Tajik, A. Jamil; Gersh, Bernard J.; Ackerman, Michael J.
June 2005
Mayo Clinic Proceedings;Jun2005, Vol. 80 Issue 6, p739
Academic Journal
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.


Related Articles

  • Adiponectin acts as a positive indicator of left ventricular diastolic dysfunction in patients with hypertrophic cardiomyopathy. Unno, Kazumasa; Shibata, Rei; Izawa, Hideo; Hirashiki, Akihiro; Murase, Yosuke; Yamada, Takashi; Kobayashi, Masakazu; Noda, Akiko; Nagata, Kohzo; Ouchi, Noriyuki; Murohara, Toyoaki // Heart;Mar2010, Vol. 96 Issue 5, p357 

    Background Adiponectin is an adipose-derived plasma protein that exhibits beneficial actions on the heart. Recently, it was shown that adiponectin levels were elevated in patients with systolic heart failure. Objective To investigate the association between adiponectin levels and left...

  • Sudden cardiac death in athletes. Semsarian, Christopher; Sweeting, Joanna; Ackerman, Michael J. // British Journal of Sports Medicine;Aug2015, Vol. 49 Issue 15, p1017 

    The article presents a review of data in literature that deals with the common causes of sudden cardiac death in athletes. The common causes of cardiac death include hypertrophic cardiomyopathy, viral infection and participation in competitive sports. The role of cardiac diseases in sudden...

  • Sudden cardiac death prediction in hypertrophic cardiomyopathy using late gadolinium enhancement: trouble in paradise? Jellis, Christine L.; Desai, Milind Y. // Heart;Dec2014, Vol. 100 Issue 23, p1821 

    The article discusses research being done on sudden cardiac death (SCD) in hypertrophic cardiomyopathy (HCM). It references in the study "Role of Late Gadolinium Enhancement Cardiovascular Magnetic Resonance in the Risk Stratification of Hypertrophic Cardiomyopathy," by T. F. Ismail et al. in...

  • Therapeutic Hypothermia and Out-of-Hospital Cardiac Arrest in a Child with Hypertrophic Obstructive Cardiomyopathy. Spurkeland, Nancy; Bennett, Gregory; Alexander, Chandran; Chang, Dennis; Ceneviva, Gary // Case Reports in Pediatrics;3/16/2015, Vol. 2015, p1 

    Neurologic outcomes following pediatric cardiac arrest are consistently poor. Early initiation of cardiopulmonary resuscitation has been shown to have positive effects on both survival to hospital discharge, and improved neurological outcomes after cardiac arrest. Additionally, the use of...

  • 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....

  • Aortic biomechanics in hypertrophic cardiomyopathy. Badran, Hala Mahfouz; Soltan, Ghada; Faheem, Nagla; Elnoamany, Mohamed Fahmy; Tawfik, Mohamed; Yacoub, Magdi // Global Cardiology Science & Practice;2015, Vol. 2015 Issue 2, p1 

    Background: Ventricular-vascular coupling is an important phenomenon in many cardiovascular diseases. The association between aortic mechanical dysfunction and left ventricular (LV) dysfunction is well characterized in many disease entities, but no data are available on how these changes are...

  • 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...

  • Predictors of Outcome of Myocarditis Predictors of Outcome of Myocarditis. Kühn, B.; Shapiro, E.D.; Watts, T.A.; Friedman, A.H. // Pediatric Cardiology;Jul/Aug2004, Vol. 25 Issue 4, p379 

    Heart failure from myocarditis may be transient or may progress to unremitting severe cardiac failure. This study was performed to determine the outcomes and prognostic features of pediatric patients with myocarditis. Patients with the diagnosis of myocarditis between 1990 and 2001 were...

  • 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,...


Read the Article


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

Try another library?
Sign out of this library

Other Topics