SORA

Advancing, promoting and sharing knowledge of health through excellence in teaching, clinical practice and research into the prevention and treatment of illness

Diagnostic yield of hypertrophic cardiomyopathy in first-degree relatives of decedents with idiopathic left ventricular hypertrophy.

Finocchiaro, G; Dhutia, H; Gray, B; Ensam, B; Papatheodorou, S; Miles, C; Malhotra, A; Fanton, Z; Bulleros, P; Homfray, T; et al. Finocchiaro, G; Dhutia, H; Gray, B; Ensam, B; Papatheodorou, S; Miles, C; Malhotra, A; Fanton, Z; Bulleros, P; Homfray, T; Witney, AA; Bunce, N; Anderson, LJ; Ware, JS; Sharma, R; Tome, M; Behr, ER; Sheppard, MN; Papadakis, M; Sharma, S (2020) Diagnostic yield of hypertrophic cardiomyopathy in first-degree relatives of decedents with idiopathic left ventricular hypertrophy. Europace, 22 (4). pp. 632-642. ISSN 1532-2092 https://doi.org/10.1093/europace/euaa012
SGUL Authors: Behr, Elijah Raphael Witney, Adam Austin Sharma, Sanjay Sheppard, Mary Noelle Miles, Christopher Jason Gray, Belinda Ruth Tome, Maria Teresa

[img] Microsoft Word (.docx) Accepted Version
Restricted to Repository staff only until 3 February 2021.
Available under License ["licenses_description_publisher" not defined].

Download (2MB)

Abstract

AIMS: Idiopathic left ventricular hypertrophy (LVH) is defined as LVH in the absence of myocyte disarray or secondary causes. It is unclear whether idiopathic LVH represents the phenotypic spectrum of hypertrophic cardiomyopathy (HCM) or whether it is a unique disease entity. We aimed to ascertain the prevalence of HCM in first-degree relatives of decedents from sudden death with idiopathic LVH at autopsy. Decedents also underwent molecular autopsy to identify the presence of pathogenic variants in genes implicated in HCM. METHODS AND RESULTS : Families of 46 decedents with idiopathic LVH (125 first-degree relatives) were investigated with electrocardiogram, echocardiogram exercise tolerance test, cardiovascular magnetic resonance imaging, 24-h Holter, and ajmaline provocation test. Next-generation sequencing molecular autopsy was performed in 14 (30%) cases. Decedents with idiopathic LVH were aged 33 ± 14 years and 40 (87%) were male. Fourteen families (30%) comprising 16 individuals were diagnosed with cardiac disease, including Brugada syndrome (n = 8), long QT syndrome (n = 3), cardiomyopathy (n = 2), and Wolff-Parkinson-White syndrome (n = 1). None of the family members were diagnosed with HCM. Molecular autopsy did not identify any pathogenic or likely pathogenic variants in genes encoding sarcomeric proteins. Two decedents had pathogenic variants associated with long QT syndrome, which were confirmed in relatives with the clinical phenotype. One decedent had a pathogenic variant associated with Danon disease in the absence of any histopathological findings of the condition or clinical phenotype in the family. CONCLUSION : Idiopathic LVH appears to be a distinct disease entity from HCM and is associated with fatal arrhythmias in individuals with primary arrhythmia syndromes. Family screening in relatives of decedents with idiopathic LVH should be comprehensive and encompass the broader spectrum of inherited cardiac conditions, including channelopathies.

Item Type: Article
Additional Information: This is a pre-copyedited, author-produced version of an article accepted for publication in Europace following peer review. The version of record Gherardo Finocchiaro, Harshil Dhutia, Belinda Gray, Bode Ensam, Stathis Papatheodorou, Chris Miles, Aneil Malhotra, Zeph Fanton, Paulo Bulleros, Tessa Homfray, Adam A Witney, Nicholas Bunce, Lisa J Anderson, James S Ware, Rajan Sharma, Maite Tome, Elijah R Behr, Mary N Sheppard, Michael Papadakis, Sanjay Sharma, Diagnostic yield of hypertrophic cardiomyopathy in first-degree relatives of decedents with idiopathic left ventricular hypertrophy, EP Europace, Volume 22, Issue 4, April 2020, Pages 632–642 is available online at: https://doi.org/10.1093/europace/euaa012
Keywords: Channelopathy, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Sudden death, Channelopathy, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Sudden death, Cardiovascular System & Hematology, 1103 Clinical Sciences
SGUL Research Institute / Research Centre: Academic Structure > Infection and Immunity Research Institute (INII)
Academic Structure > Molecular and Clinical Sciences Research Institute (MCS)
Journal or Publication Title: Europace
ISSN: 1532-2092
Language: eng
Dates:
DateEvent
April 2020Published
3 February 2020Published Online
4 January 2020Accepted
Publisher License: Publisher's own licence
Projects:
Project IDFunderFunder ID
UNSPECIFIEDCharles Wolfson Charitable TrustUNSPECIFIED
UNSPECIFIEDCardiac Risk in the YoungUNSPECIFIED
FS/18/28/33549British Heart Foundationhttp://dx.doi.org/10.13039/501100000274
PubMed ID: 32011662
Go to PubMed abstract
URI: http://openaccess.sgul.ac.uk/id/eprint/111655
Publisher's version: https://doi.org/10.1093/europace/euaa012

Actions (login required)

Edit Item Edit Item