Rare Variants in Genes Associated With Cardiomyopathy Are Not Common in Hypoplastic Left Heart Syndrome Patients With Myocardial Dysfunction

Frontiers in Pediatrics
Emmi HelleTiina Ojala

Abstract

Myocardial dysfunction is a known risk factor for morbidity and mortality in hypoplastic left heart syndrome (HLHS). Variants in some transcription factor and contractility genes, which are known to cause cardiomyopathy, have previously been associated with impaired right ventricular function in some HLHS patients. The care of HLHS patients is resource demanding. Identifying genetic variants associated with myocardial dysfunction would be helpful in tailoring the follow-up and therapeutic strategies. We tested whether a commercial cardiomyopathy gene panel could serve as a diagnostic tool in a Finnish cohort of HLHS patients with impaired right ventricular function to identify potentially pathogenic variants associated with poor prognosis. None of the patients had pathogenic or likely pathogenic variants in the studied cardiomyopathy-associated genes. Thus, our approach of performing a cardiomyopathy gene panel to identify pathogenic variants as directly causal or as modifiers for worse outcomes in hypoplastic left heart syndrome is not useful in clinical practice at the moment.

References

Jun 27, 2002·Journal of the American College of Cardiology·Julien I E Hoffman, Samuel Kaplan
Jul 29, 2008·The Journal of Pediatrics·Mark D RellerAdolfo Correa
Mar 21, 2009·Journal of the American College of Cardiology·Paul GrossfeldRichard Harvey
Feb 10, 2012·Physiological Genomics·Aoy Tomita-MitchellMichael E Mitchell
Sep 13, 2012·PLoS Genetics·Marc-Phillip HitzGregor Andelfinger
Jun 25, 2013·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Alexa M C VermeerBernard Keavney
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
Jun 19, 2015·Circulation. Cardiovascular Genetics·Jeanne L TheisTimothy M Olson
Jan 21, 2016·Circulation·Karen K StoutUNKNOWN American Heart Association Council on Clinical Cardiology, Council on Functional Genomics and Translational Biology, and Cou
Jan 29, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Wilhelmina S Kerstjens-FrederikseM W Wessels
Oct 30, 2016·Physiological Genomics·Aoy Tomita-MitchellMichael E Mitchell
Dec 19, 2018·Circulation. Genomic and Precision Medicine·Judith M A VerhagenMarja W Wessels
Dec 21, 2018·Circulation·Mary Ella PierpontUNKNOWN American Heart Association Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; and
May 29, 2020·Nature·Konrad J KarczewskiDaniel G MacArthur
Jun 20, 2020·Heart Failure Reviews·Yannick J H J TaverneDaphne Merkus

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