Focus 01 August 2020

Focus on Vascular Surgery and Cardiology

Genetics in Medicine has published numerous articles of interest to clinicians working in cardiology and vascular surgery. The editors have compiled the most pertinent articles to highlight a few that will be most useful for busy practitioners in the fields of cardiology and cardiovascular and vascular surgery.

The genetic architecture of Plakophilin 2 cardiomyopathy
- Annika M. Dries
- Anna Kirillova
- Victoria N. Parikh
ArticleOpen Access12 Jun 2021 Genetics in Medicine
Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth
- Catherine E. Cottrell
- Nicole R. Bender
- Beth A. Drolet
ArticleOpen Access26 May 2021 Genetics in Medicine
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11
- Thomas A. Ravenscroft
- Jennifer B. Phillips
- Hugo J. Bellen
Article10 Jun 2021 Genetics in Medicine
X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model
- Mark D. Levin
- Simona Bianconi
- Fady Hannah-Shmouni
Article28 May 2021 Genetics in Medicine
A randomized controlled trial of genetic testing and cascade screening in familial hypercholesterolemia
- Ezimamaka Ajufo
- Emil M. deGoma
- Daniel J. Rader
Article26 May 2021 Genetics in Medicine
Addendum: American College of Medical Genetics consensus statement on factor V Leiden mutation testing
- Sucheta Bhatt
- Annette K. Taylor
- ACMG Professional Practice and Guidelines Committee
Addendum5 Mar 2021 Genetics in Medicine
Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants
- Pauline Arnaud
- Olivier Milleron
- Guillaume Jondeau
ArticleOpen Access17 Mar 2021 Genetics in Medicine
Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation
- Andrea D. Thompson
- Adam S. Helms
- Sharlene M. Day
ArticleOpen Access29 Mar 2021 Genetics in Medicine
Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy
- Christopher M. Richmond
- Paul A. James
- Ivan Macciocca
Article10 Feb 2021 Genetics in Medicine
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies
- Francesco Mazzarotto
- Megan H. Hawley
- Roddy Walsh
ArticleOpen Access26 Jan 2021 Genetics in Medicine
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort
- Alexandra Scott
- Niccolò Di Giosaffatte
- Alessandro De Luca
Article10 Feb 2021 Genetics in Medicine
Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome
- Pauline Arnaud
- Hélène Morel
- Nadine Hanna
ArticleOpen Access25 Jan 2021 Genetics in Medicine
Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3
- Daniel Peter Sayer Osborn
- Leila Emrahi
- Homa Tajsharghi
Brief CommunicationOpen Access8 Dec 2020 Genetics in Medicine
Biallelic truncating variants in MAPKAPK5 cause a new developmental disorder involving neurological, cardiac, and facial anomalies combined with synpolydactyly
- Denise Horn
- Elisa Fernández-Núñez
- Victor L. Ruiz-Perez
Article13 Jan 2021 Genetics in Medicine
Cardiovascular risk factors and body composition in adults with achondroplasia
- Svein O. Fredwall
- Jennifer Linge
- Serena Tonstad
ArticleOpen Access18 Nov 2020 Genetics in Medicine
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females
- Dong Li
- Alanna Strong
- Elizabeth Bhoj
Article27 Nov 2020 Genetics in Medicine
A phase 2/3 randomized clinical trial followed by an open-label extension to evaluate the effectiveness of elamipretide in Barth syndrome, a genetic disorder of mitochondrial cardiolipin metabolism
- W. Reid Thompson
- Brittany Hornby
- Hilary J. Vernon
ArticleOpen Access20 Oct 2020 Genetics in Medicine
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)
- Carlos R. Ferreira
- Mary E. Hackbarth
- William A. Gahl
Article2 Oct 2020 Genetics in Medicine
Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions
- Xiaolei Zhang
- Roddy Walsh
- James S. Ware
ArticleOpen Access13 Oct 2020 Genetics in Medicine
Assessment of plasma lyso-Gb₃ for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease
- Daniel G. Bichet
- Johannes M. Aerts
- Raphael Schiffmann
ArticleOpen Access30 Sep 2020 Genetics in Medicine
Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death
- Emma S. Singer
- Samantha B. Ross
- Richard D. Bagnall
Article25 Sep 2020 Genetics in Medicine
A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations
- Brittany M. Wenger
- Nihir Patel
- Bruce D. Gelb
Article29 Sep 2020 Genetics in Medicine
Predicting the risk of cardiac myxoma in Carney complex
- Georgia Pitsava
- Chunming Zhu
- Constantine A. Stratakis
Article7 Sep 2020 Genetics in Medicine
Genotype–phenotype correlations in recessive titinopathies
- Marco Savarese
- Anna Vihola
- Bjarne Udd
Article11 Aug 2020 Genetics in Medicine
Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysms
- Eva S. van Walree
- Gregor Dombrowsky
- Inge B. Mathijssen
Article21 Aug 2020 Genetics in Medicine
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls
- Roddy Walsh
- Najim Lahrouchi
- Connie R. Bezzina
ArticleOpen Access7 Sep 2020 Genetics in Medicine
Lack of evidence to support recommendation for prenatal uniparental disomy (UPD) analysis following mosaic embryo transfer
- Emily L. Mounts
- Andria G. Besser
Correspondence19 Aug 2020 Genetics in Medicine
Evaluating the extent of reusability of CYP2C19 genotype data among patients genotyped for antiplatelet therapy selection
- Amber L. Beitelshees
- James M. Stevenson
- the IGNITE Pharmacogenetics Working Group
Brief Communication17 Jul 2020 Genetics in Medicine
Cardiac involvement in classical or hypermobile Ehlers–Danlos syndrome is uncommon
- Sharon L. Paige
- Kirstie M. Lechich
- R. Thomas Collins II
Article9 Jun 2020 Genetics in Medicine
Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
- Laura Castilla-Vallmanya
- Kaja K. Selmer
- Christopher T. Gordon
Article7 May 2020 Genetics in Medicine
The prevalence of genetic diagnoses in fetuses with severe congenital heart defects
- Amber E. L. van Nisselrooij
- Malou A. Lugthart
- Monique C. Haak
ArticleOpen Access28 Apr 2020 Genetics in Medicine
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease
- Miriam S. Reuter
- Rajiv R. Chaturvedi
- Rebekah K. Jobling
ArticleOpen Access10 Feb 2020 Genetics in Medicine
Systematic review of the evidence on the cost-effectiveness of pharmacogenomics-guided treatment for cardiovascular diseases
- Ye Zhu
- Kristi M. Swanson
- Bijan J. Borah
Systematic ReviewOpen Access8 Oct 2019 Genetics in Medicine
Clinical utility of exome sequencing in infantile heart failure
- Alyssa Ritter
- Emma Bedoukian
- Rebecca C. Ahrens-Nicklas
Brief Communication17 Sep 2019 Genetics in Medicine
Frequency and clinical outcomes of CYP2C19 genotype-guided escalation and de-escalation of antiplatelet therapy in a real-world clinical setting
- Jesse Martin
- Alexis K. Williams
- Craig R. Lee
Article18 Jul 2019 Genetics in Medicine
A cost-effectiveness model of genetic testing and periodical clinical screening for the evaluation of families with dilated cardiomyopathy
- Max Catchpool
- Jay Ramchand
- Ilias Goranitis
ArticleOpen Access20 Jun 2019 Genetics in Medicine
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility
- Neeti Ghali
- Duncan Baker
- Fleur S. van Dijk
Article6 Mar 2019 Genetics in Medicine
Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)
- Pauline Arnaud
- Nadine Hanna
- Catherine Boileau
Article11 Feb 2019 Genetics in Medicine
Phenotype of CM-AVM2 caused by variants in EPHB4: how much overlap with hereditary hemorrhagic telangiectasia (HHT)?
- Whitney L. Wooderchak-Donahue
- Gulsen Akay
- Jamie McDonald
Article14 Feb 2019 Genetics in Medicine
Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients
- Sina Renner
- Helke Schüler
- Georg Rosenberger
Article24 Jan 2019 Genetics in Medicine
Psychological adaptation to molecular autopsy findings following sudden cardiac death in the young
- Kezia Bates
- Joanna Sweeting
- Jodie Ingles
Brief Communication16 Oct 2018 Genetics in Medicine
Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot
- Miriam S. Reuter
- Rebekah Jobling
- Anne S. Bassett
Brief CommunicationOpen Access20 Sep 2018 Genetics in Medicine
Identification of clinically actionable variants from genome sequencing of families with congenital heart disease
- Dimuthu Alankarage
- Eddie Ip
- Sally L. Dunwoodie
Article8 Oct 2018 Genetics in Medicine
Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia
- Maris Alver
- Marili Palover
- Tõnu Esko
ArticleOpen Access1 Oct 2018 Genetics in Medicine
A gene-centric strategy for identifying disease-causing rare variants in dilated cardiomyopathy
- Claire Horvat
- Renee Johnson
- Diane Fatkin
Article11 Jun 2018 Genetics in Medicine
Health behaviors among unaffected participants following receipt of variants of uncertain significance in cardiomyopathy-associated genes
- Ilana M. Miller
- Katie L. Lewis
- Leslie G. Biesecker
Brief Communication12 Jul 2018 Genetics in Medicine
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy
- Andre E. Minoche
- Claire Horvat
- Diane Fatkin
Article2 Jul 2018 Genetics in Medicine
Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
- Ray E. Hershberger
- Michael M. Givertz
- on behalf of the ACMG Professional Practice and Guidelines Committee
ACMG Practice Resource14 Jun 2018 Genetics in Medicine
Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center
- Francesco Mazzarotto
- Francesca Girolami
- Iacopo Olivotto
ArticleOpen Access6 Jun 2018 Genetics in Medicine
MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants
- Stephanie E. Wallace
- Ellen S. Regalado
- Dianna M. Milewicz
Article20 Jun 2018 Genetics in Medicine
Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy
- Johanna C Herkert
- Kristin M Abbott
- Jan D H Jongbloed
Article8 Mar 2018 Genetics in Medicine
Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial
- Kurt D Christensen
- Jason L Vassy
- for the MedSeq Project
Article22 Mar 2018 Genetics in Medicine
Tell me once, tell me soon: parents’ preferences for clinical genetics services for congenital heart disease
- Nadine A Kasparian
- Richard De Abreu Lourenco
- Edwin P E Kirk
Article1 Mar 2018 Genetics in Medicine
Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta
- Ruwan Weerakkody
- David Ross
- Timothy J Aitman
Article15 Mar 2018 Genetics in Medicine
Anticipating uncertainty and irrevocable decisions: provider perspectives on implementing whole-genome sequencing in critically ill children with heart disease
- Danton S Char
- Sandra Soo-Jin Lee
- Mildred Cho
Article1 Mar 2018 Genetics in Medicine
Congenital heart disease and aortic arch variants associated with mutation in PHOX2B
- Rachel C Lombardo
- Aleksey Porollo
- Robert J Hopkin
Article15 Mar 2018 Genetics in Medicine
CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation
- Nicola Whiffin
- Roddy Walsh
- Stuart A Cook
ArticleOpen Access25 Jan 2018 Genetics in Medicine
Recommending inclusion of HFE C282Y homozygotes in the ACMG actionable gene list: cop-out or stealth move toward population screening?
- Anne-Marie Laberge
Invited Commentary19 Oct 2017 Genetics in Medicine
Low frequency of Fabry disease in patients with common heart disease
- Raphael Schiffmann
- Caren Swift
- Xiaoyang Wu
ArticleOpen Access26 Oct 2017 Genetics in Medicine
Transthyretin V122I (pV142I)* cardiac amyloidosis: an age-dependent autosomal dominant cardiomyopathy too common to be overlooked as a cause of significant heart disease in elderly African Americans
- Joel N. Buxbaum
- Frederick L. Ruberg
Review19 Jan 2017 Genetics in Medicine
Exome sequencing–based molecular autopsy of formalin-fixed paraffin-embedded tissue after sudden death
- Richard D. Bagnall
- Jodie Ingles
- Christopher Semsarian
Original Research Article23 Mar 2017 Genetics in Medicine
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
- Roddy Walsh
- Kate L. Thomson
- Hugh Watkins
Original Research ArticleOpen Access17 Aug 2016 Genetics in Medicine
Ethical considerations for genetic testing in the context of mandated cardiac screening before athletic participation
- Emma F. Magavern
- Lauren Badalato
- Pascal Borry
Commentary22 Sep 2016 Genetics in Medicine
Numerous Brugada syndrome–associated genetic variants have no effect on J-point elevation, syncope susceptibility, malignant cardiac arrhythmia, and all-cause mortality
- Jonas Ghouse
- Christian T. Have
- Morten S. Olesen
Original Research Article6 Oct 2016 Genetics in Medicine
Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families
- Wilhelmina S. Kerstjens-Frederikse
- Ingrid M.B.H. van de Laar
- M.W. Wessels
Original Research Article28 Jan 2016 Genetics in Medicine
Characterization of pulmonary arteriovenous malformations in ACVRL1 versus ENG mutation carriers in hereditary hemorrhagic telangiectasia
- Weiyi Mu
- Zachary A Cordner
- Doris Lin
Original Research Article19 Oct 2017 Genetics in Medicine
Arterial tortuosity syndrome: 40 new families and literature review
- Aude Beyens
- Juliette Albuisson
- Bert Callewaert
Article11 Jan 2018 Genetics in Medicine
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield
- Kate L. Thomson
- Elizabeth Ormondroyd
- NIHR BioResource – Rare Diseases Consortium
ArticleOpen Access11 Dec 2018 Genetics in Medicine
Marfan syndrome: improved clinical history results in expanded natural history
- Reed E. Pyeritz
Review Article21 Dec 2018 Genetics in Medicine

Focus on Vascular Surgery and Cardiology

Search

Quick links