Imperial College London
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Dr Francesco Mazzarotto

Faculty of Medicine, National Heart & Lung Institute

Honorary Research Fellow
 
 
 
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Contact

 

+44 (0)20 7352 8121 ext 3009f.mazzarotto

 
 
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Location

 

2058Sydney StreetRoyal Brompton Campus

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Summary

 

Publications

Citation

BibTex format

@article{Mazzarotto:2020:10.1161/JAHA.119.015473,
author = {Mazzarotto, F and Olivotto, I and Boschi, B and Girolami, F and Poggesi, C and Barton, P and Walsh, R},
doi = {10.1161/JAHA.119.015473},
journal = {Journal of the American Heart Association},
pages = {1--22},
title = {Contemporary insights into the genetics of hypertrophic cardiomyopathy: towards a new era in clinical testing?},
url = {http://dx.doi.org/10.1161/JAHA.119.015473},
volume = {21},
year = {2020}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Genetic testing for hypertrophic cardiomyopathy (HCM) is an established clinical technique, supported by30 years of research into its genetic aetiology. Although pathogenic variants are often detected in patientsand used to identify at-risk relatives, the effectiveness of genetic testing has been hampered by ambiguousgenetic associations (yielding uncertain and potentially false-positive results), difficulties in classifyingvariants and uncertainty about genotype-negative patients. Recent case-control studies on rare variation,improved data sharing and meta-analysis of case cohorts contributed to new insights into the genetic basisof HCM. In particular, while research into new genes and mechanisms remains essential, re-assessment ofMendelian genetic associations in HCM argues that current clinical genetic testing should be limited to asmall number of validated disease genes that yield informative and interpretable results. Accurate andconsistent variant interpretation has benefitted from new standardised variant interpretation guidelines andinnovative approaches to improve classification. Most cases lacking a pathogenic variant are now believedto indicate non-Mendelian HCM, with more benign prognosis and minimal risk to relatives.Here, we discuss recent advances in the genetics of HCM and their application to clinical genetic testingtogether with practical issues regarding implementation. While this review focuses on HCM, many of theissues discussed are also relevant to other inherited cardiac diseases.
AU  - Mazzarotto,F
AU  - Olivotto,I
AU  - Boschi,B
AU  - Girolami,F
AU  - Poggesi,C
AU  - Barton,P
AU  - Walsh,R
DO  - 10.1161/JAHA.119.015473
EP  - 22
PY  - 2020///
SN  - 2047-9980
SP  - 1
TI  - Contemporary insights into the genetics of hypertrophic cardiomyopathy: towards a new era in clinical testing?
T2  - Journal of the American Heart Association
UR  - http://dx.doi.org/10.1161/JAHA.119.015473
UR  - https://www.ahajournals.org/doi/10.1161/JAHA.119.015473
UR  - http://hdl.handle.net/10044/1/78131
VL  - 21
ER  -
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