Assessment of the diagnostic yield of combined cardiomyopathy and arrhythmia genetic testing

LM Dellefave-Castillo, AL Cirino, TE Callis… - JAMA …, 2022 - jamanetwork.com
Importance Genetic testing can guide management of both cardiomyopathies and
arrhythmias, but cost, yield, and uncertain results can be barriers to its use. It is unknown …

[HTML][HTML] Inherited cardiac arrhythmias: diagnosis, treatment, and prevention

BM Beckmann, A Pfeufer, S Kääb - Deutsches Ärzteblatt …, 2011 - ncbi.nlm.nih.gov
Background The incidence of sudden cardiac death in persons under age 40 is roughly 3
per 100 000 persons per year in Germany and North America. Many of these deaths are …

Prognostic prediction of genotype vs phenotype in genetic cardiomyopathies

A Paldino, M Dal Ferro, D Stolfo, I Gandin… - Journal of the American …, 2022 - jacc.org
Background Diverse genetic backgrounds often lead to phenotypic heterogeneity in
cardiomyopathies (CMPs). Previous genotype-phenotype studies have primarily focused on …

The value of cardiac genetic testing

J Ingles, C Semsarian - Trends in Cardiovascular Medicine, 2014 - Elsevier
Genetic testing is an important and necessary aspect of the management of families with
cardiac genetic conditions. Commercial genetic tests are available for most cardiac genetic …

Epidemiology of inherited arrhythmias

JA Offerhaus, CR Bezzina, AAM Wilde - Nature Reviews Cardiology, 2020 - nature.com
The primary electrical disorders are a group of inherited cardiac ventricular arrhythmias that
are a major cause of sudden cardiac death in young individuals. Inherited ventricular …

Arrhythmogenic cardiomyopathy

K Pilichou, G Thiene, B Bauce, I Rigato… - Orphanet journal of rare …, 2016 - Springer
Arrhythmogenic cardiomyopathy (AC) is a heart muscle disease clinically characterized by
life-threatening ventricular arrhythmias and pathologically by an acquired and progressive …

Mutational heterogeneity, modifier genes, and environmental influences contribute to phenotypic diversity of arrhythmogenic cardiomyopathy

S Sen-Chowdhry, P Syrris, A Pantazis… - Circulation …, 2010 - Am Heart Assoc
Background—Arrhythmogenic cardiomyopathy is one of the leading causes of sudden
cardiac death in the≤ 35-year age group. The broad phenotypic spectrum encompasses left …

[HTML][HTML] Recent advances in genetic testing and counseling for inherited arrhythmias

Y Mizusawa - Journal of arrhythmia, 2016 - Elsevier
Inherited arrhythmias, such as cardiomyopathies and cardiac ion channelopathies, along
with coronary heart disease (CHD) are three most common disorders that predispose adults …

Inherited cardiomyopathies

H Watkins, H Ashrafian… - New England Journal of …, 2011 - Mass Medical Soc
Inherited Cardiomyopathies | New England Journal of Medicine Skip to main content The New
England Journal of Medicine homepage Advanced Search SEARCH SPECIALTIES Cardiology …

Understanding the genetics of adult-onset dilated cardiomyopathy: what a clinician needs to know

U Tayal, JS Ware, NK Lakdawala… - European Heart …, 2021 - academic.oup.com
There is increasing understanding of the genetic basis to dilated cardiomyopathy and in this
review, we offer a practical primer for the practising clinician. We aim to help all clinicians …