Topic Highlight
Copyright ©2014 Baishideng Publishing Group Co., Limited. All rights reserved.
World J Cardiol. Feb 26, 2014; 6(2): 26-37
Published online Feb 26, 2014. doi: 10.4330/wjc.v6.i2.26
Hypertrophic cardiomyopathy in 2013: Current speculations and future perspectives
Georgios K Efthimiadis, Efstathios D Pagourelias, Thomas Gossios, Thomas Zegkos
Georgios K Efthimiadis, Efstathios D Pagourelias, Thomas Gossios, Thomas Zegkos, Cardiomyopathies Center, First Cardiology Department, AHEPA University Hospital, Medical School, Aristotle University of Thessaloniki, 54622 Thessaloniki, Greece
Author contributions: Efthimiadis GK and Pagourelias ED reviewed the literature, organized and wrote the various sections of the paper; Gossios T contributed to the manuscript’s format and together with Zegkos T critically reviewed and edited the final version of this paper.
Correspondence to: Georgios K Efthimiadis, MD, Cardiomyopathies Center, First Cardiology Department, AHEPA University Hospital, Medical School, Aristotle University of Thessaloniki, 1 Al Svolou str, 54622 Thessaloniki, Greece. efthymos@med.auth.gr
Telephone: +30-231-994820 Fax: +30-231-994820
Received: November 7, 2013
Revised: December 4, 2013
Accepted: January 13, 2014
Published online: February 26, 2014
Processing time: 110 Days and 19.1 Hours
Abstract

Hypertrophic cardiomyopathy (HCM), the most variable cardiac disease in terms of phenotypic presentation and clinical outcome, represents the most common inherited cardiomyopathic process with an autosomal dominant trait of inheritance. To date, more than 1400 mutations of myofilament proteins associated with the disease have been identified, most of them “private” ones. This striking allelic and locus heterogeneity of the disease certainly complicates the establishment of phenotype-genotype correlations. Additionally, topics pertaining to patients’ everyday lives, such as sudden cardiac death (SCD) risk stratification and prevention, along with disease prognosis, are grossly related to the genetic variation of HCM. This review incorporates contemporary research findings and addresses major aspects of HCM, including preclinical diagnosis, genetic analysis, left ventricular outflow tract obstruction and SCD. More specifically, the spectrum of genetic analysis, the selection of the best method for obstruction alleviation and the need for a unique and accurate factor for SCD risk stratification are only some of the controversial HCM issues discussed. Additionally, future perspectives concerning HCM and myocardial ischemia, as well as atrial fibrillation, are discussed. Rather than enumerating clinical studies and guidelines, challenging problems concerning the disease are critically appraised by this review, highlighting current speculations and recommending future directions.

Keywords: Hypertrophic cardiomyopathy, Preclinical diagnosis, Left ventricular outflow obstruction, Sudden cardiac death, Genetic analysis

Core tip: Hypertrophic cardiomyopathy (HCM) represents the most common inherited cardiomyopathic process with an autosomal dominant trait of inheritance. This review incorporates contemporary research findings and addresses major and controversial aspects of HCM, including preclinical diagnosis, genetic analysis, left ventricular outflow tract obstruction, sudden cardiac death, myocardial ischemia and atrial fibrillation. Rather than enumerating clinical studies and guidelines, challenging problems concerning the disease are critically appraised by this review, highlighting current speculations and recommending future directions.