top-banner

It Is Not Carved in Stone – The Need for a Genetic Reevaluation of Variants in Pediatric Cardiomyopathies

A recent article published by our colleagues in the Journal of Cardiovascular Development and Disease reports that in patients with childhood-onset cardiomyopathies, nearly 30% of reported genetic variants are found to be (likely) benign upon reclassification. Given the impact on patient management and cascade screening, this finding underlines the importance of continuous genetic counseling and variant reclassification.

Abstract

(1) Background: In cardiomyopathies, identification of genetic variants is important for the correct diagnosis and impacts family cascade screening. A classification system was published by the American College of Medical Genetics and Genomics (ACMG) in 2015 to standardize variants’ classification. The aim of the study was to determine the rate of reclassification of previously identified variants in patients with childhood-onset cardiomyopathies.

(2) Methods: Medical records of patients and their relatives were screened for clinical and genetic information at the Department of Congenital Heart Defects and Pediatric Cardiology, German Heart Center Munich. Patients without an identified genetic variant were excluded from further analyses. Previously reported variants were reevaluated by the ACMG criteria in November 2021.

(3) Results: Data from 167 patients or relatives of patients with childhood-onset cardiomyopathy from 137 families were analyzed. In total, 45 different genetic variants were identified in 71 individuals. Classification changed in 29% (13/45) with the greatest shift in “variants of unknown significance” to “(likely) benign” (9/13).

(4) Conclusions: In patients with childhood-onset cardiomyopathies, nearly a third of reported genetic variants change mostly to more benign classes upon reclassification. Given the impact on patient management and cascade screening, this finding underlines the importance of continuous genetic counseling and variant.

Reference

Westphal DS et al. It Is Not Carved in Stone-The Need for a Genetic Reevaluation of Variants in Pediatric Cardiomyopathies. J Cardiovasc Dev Dis. 2022 Jan 25;9(2):41. doi: 10.3390/jcdd9020041. PMID: 35200695; PMCID: PMC8875742. https://www.mdpi.com/2308-3425/9/2/41

Related articles

Two epigenetically distinct types of obesity identified

Scientists have discovered two distinct types of obesity with physiological and molecular differences that may have lifelong implications f..

Medicover Genetics posters at ESHG 2022

Medicover Genetics attended the 55th edition of the largest genetics conference in Europe, European Human Genetics Conference, held in..

Ehlers-Danlos syndrome (EDS): types, symptoms, causes and genetics

Ehlers-Danlos syndrome (EDS) is not one syndrome but a group of clinically and genetically heterogeneous connective tissue disorders. There..

Related articles

Two epigenetically distinct types of obesity identified

Scientists have discovered two distinct types of obesity with physiological and molecular differences that may have lifelong implications f..

Medicover Genetics posters at ESHG 2022

Medicover Genetics attended the 55th edition of the largest genetics conference in Europe, European Human Genetics Conference, held in..

Ehlers-Danlos syndrome (EDS): types, symptoms, causes and genetics

Ehlers-Danlos syndrome (EDS) is not one syndrome but a group of clinically and genetically heterogeneous connective tissue disorders. There..

Latest articles

Two epigenetically distinct types of obesity identified

Scientists have discovered two distinct types of obesity with physiological and molecular differences that may have lifelong implications f..

Genetics of blood type: inheritance and compatibility

About 118.54 million blood donations are collected worldwide [1, WHO]. Knowing your blood type is important for medical reasons, e.g. if yo..

Genetics can influence the time that ADHD is first diagnosed and its persistence into adulthood

ADHD is primarily a neurodevelopmental disorder affecting children. However, about two-thirds of those affected will continue to have the c..

Latest articles

Two epigenetically distinct types of obesity identified

Scientists have discovered two distinct types of obesity with physiological and molecular differences that may have lifelong implications f..

Genetics of blood type: inheritance and compatibility

About 118.54 million blood donations are collected worldwide [1, WHO]. Knowing your blood type is important for medical reasons, e.g. if yo..

Genetics can influence the time that ADHD is first diagnosed and its persistence into adulthood

ADHD is primarily a neurodevelopmental disorder affecting children. However, about two-thirds of those affected will continue to have the c..

RELATED PRODUCTS

CARDIAC AND AORTIC PANELS KNOW&MANAGE

Diagnosing cardiac or aortic disorders using clinically actionable gene panels

ARRYTHMIAS & CARDIOMYOPATHIES PANEL

Arrythmogenic diseases include primary arrythmia syndromes, which are ion channel diseases of the heart muscle, and cardiomyopathies with a risk of arrythmia

DILATED CARDIOMYOPATHY (DCM)

Dilated cardiomyopathy (DCM) is characterized by dilation and limited contraction of the left or both ventricles

OUR NETWORK