Genetics of hypertrophic cardiomyopathy: one, two, or more diseases?

@article{Bos2007GeneticsOH,
  title={Genetics of hypertrophic cardiomyopathy: one, two, or more diseases?},
  author={J. Martijn Bos and Steve Ommen and Michael J. Ackerman},
  journal={Current Opinion in Cardiology},
  year={2007},
  volume={22},
  pages={193–199}
}
Purpose of review Hypertrophic cardiomyopathy is the most common identifiable cause of sudden death in the young. This review details the history of hypertrophic cardiomyopathy, recent discoveries in its genetic underpinnings and important genotype–phenotype relationships described in recent studies. Recent findings Since the discovery of the genetic underpinnings of hypertrophic cardiomyopathy in 1989 hundreds of mutations scattered among at least 10 sarcomeric genes confer the pathogenetic… 
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GENETIC BASIS OF HYPERTROPHIC CARDIOMYOPATHY
TLDR
With recent discoveries in genotype-phenotype relationships, especially pertaining to the echocardiographic septal shape and the underlying pathogenetic mutation, time has come to subdivide the one disease, hypertrophic cardiomyopathy, into several diseases.
Advances in Heart Failure Progress With Genetic Cardiomyopathies Screening, Counseling, and Testing in Dilated, Hypertrophic, and Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
This review focuses on the genetic cardiomyopathies: principally dilated cardiomyopathy, with salient features of hypertrophic cardiomyopathy and arrhythmogenic right ventricular…
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Genetic Testing for Potentially Lethal, Highly Treatable Inherited Cardiomyopathies/Channelopathies in Clinical Practice
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The state of clinical genetic testing for 4 of the principal cardiomyopathies/channelopathies: HCM, LQTS, CPVT, and BrS is reviewed, with some points on the ethical, legal, and societal implications of genetic testing.
Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy.
This review focuses on the genetic cardiomyopathies: principally dilated cardiomyopathy, with salient features of hypertrophic cardiomyopathy and arrhythmogenic right ventricular…
Sarcomeric hypertrophic cardiomyopathy: genetic profile in a Portuguese population.
Clinical utility of genetic tests for inherited hypertrophic and dilated cardiomyopathies
TLDR
A concise overview of the genetic etiology as well as the clinical utilities and limitations of genetic testing for the heritable cardiomyopathies is provided.
Investigation of Pathogenic Genes in Chinese sporadic Hypertrophic Cardiomyopathy Patients by Whole Exome Sequencing
TLDR
The benefit of WES, in combination with rare variant analysis tools, in providing valuable insight into the genetic etiology of a heterogeneous sporadic disease is illustrated.
Research priorities in hypertrophic cardiomyopathy: report of a Working Group of the National Heart, Lung, and Blood Institute.
TLDR
Research initiatives are identified that the authors hope will lead to novel therapeutic approaches for patients with HCM, the leading cause of sudden death in young people and leads to significant disability in survivors.
Evaluation of the flanking nucleotide sequences of sarcomeric hypertrophic cardiomyopathy substitution mutations.
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