Hypertrophic Cardiomyopathy in Underrepresented Populations: Clinical and Genetic Landscape Based on a Russian Single-Center Cohort Study

A rare variant in the TTR gene (p.E112K) is associated with systemic amyloidosis and a new symptom – skin hyperemia in response to ethanol intake: family segregation analysis, literature review, and a clinical case. Case report

(2023) Olga S. Chumakova et al.   TERAPEVTICHESKII ARKHIV

Is There a Sex Difference in the Prognosis of Hypertrophic Cardiomyopathy? A Systematic Review and Meta‐Analysis

(2023) Huilei Zhao et al.   Journal of the American Heart Association

Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy

(2023) Mona Allouba et al.   EUROPEAN HEART JOURNAL

Diagnosis and Evaluation of Hypertrophic Cardiomyopathy

(2022) Barry J. Maron et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Case Report: Two New Cases of Autosomal-Recessive Hypertrophic Cardiomyopathy Associated With TRIM63-Compound Heterozygous Variant

(2022) Sofiya Andreeva et al.   Frontiers in Genetics

The Genetic Architecture of Hypertrophic Cardiomyopathy in Hungary: Analysis of 242 Patients with a Panel of 98 Genes

(2022) Róbert Sepp et al.   Diagnostics

Diagnostic validity and clinical utility of genetic testing for hypertrophic cardiomyopathy: a systematic review and meta-analysis

(2022) Susan Christian et al.   Open Heart

Thin filament cardiomyopathies: A review of genetics, disease mechanisms, and emerging therapeutics

(2022) Lucas K. Keyt et al.   Frontiers in Cardiovascular Medicine

Overlapping Phenotype of Adult-Onset ALPK3-Cardiomyopathy in the Setting of Two Novel Variants

(2022) Olga S. Chumakova et al.   Cardiology Research

Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity

(2021) Andrew R. Harper et al.   NATURE GENETICS

Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect

(2021) Rafik Tadros et al.   NATURE GENETICS

The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia

(2021) Alexey Meshkov et al.   Genes

Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy

(2021) Luis R Lopes et al.   EUROPEAN HEART JOURNAL

Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies

(2021) Roddy Walsh et al.   Nature Reviews Cardiology

Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy

(2021) Elena V. Filatova et al.   Molecular Genetics & Genomic Medicine

A Mutation Update for the FLNC gene in Myopathies and Cardiomyopathies

(2020) Job A.J. Verdonschot et al.   HUMAN MUTATION

ESC EORP Cardiomyopathy Registry: real‐life practice of genetic counselling and testing in adult cardiomyopathy patients

(2020) Tiina Heliö et al.   ESC Heart Failure

Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy

(2020) Adam S. Helms et al.   Circulation-Genomic and Precision Medicine

Associations Between Female Sex, Sarcomere Variants and Clinical Outcomes in Hypertrophic Cardiomyopathy

(2020) Neal K. Lakdawala et al.   Circulation-Genomic and Precision Medicine

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy

(2019) Roddy Walsh et al.   Genome Medicine

Genome-wide sequence analyses of ethnic populations across Russia

(2019) Daria V. Zhernakova et al.   GENOMICS

Single-Centre Experience of Surgical Myectomy for Hypertrophic Obstructive Cardiomyopathy

(2019) Alexander V. Afanasyev et al.   Heart Lung and Circulation

Obesity and metabolic health status are determinants for the clinical expression of hypertrophic cardiomyopathy

(2019) Jun-Bean Park et al.   European Journal of Preventive Cardiology

Mortality Among Referral Patients With Hypertrophic Cardiomyopathy vs the General European Population

(2019) Massimiliano Lorenzini et al.   JAMA Cardiology

The Cardiomyopathy Registry of the EURObservational Research Programme of the European Society of Cardiology: baseline data and contemporary management of adult patients with cardiomyopathies

(2018) Philippe Charron et al.   EUROPEAN HEART JOURNAL

The Portuguese Registry of Hypertrophic Cardiomyopathy: Overall results

(2018) Nuno Cardim et al.   Revista Portuguesa de Cardiologia

Global Burden of Hypertrophic Cardiomyopathy

(2018) Barry J. Maron et al.   JACC-Heart Failure

Association of Racial/Ethnic Categories With the Ability of Genetic Tests to Detect a Cause of Cardiomyopathy

(2018) Latrice G. Landry et al.   JAMA Cardiology

Phenotypic variations in carriers of predicted protein-truncating genetic variants in MYBPC3: an autopsy-based case series

(2018) Nori Williams et al.   CARDIOVASCULAR PATHOLOGY

Influence of centre expertise on the diagnosis and management of hypertrophic cardiomyopathy: A study from the French register of hypertrophic cardiomyopathy (REMY)

(2018) Mariana Mirabel et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy

(2018) Carolyn Y. Ho et al.   CIRCULATION

Prevalence and Clinical Implication of Double Mutations in Hypertrophic CardiomyopathyCLINICAL PERSPECTIVE

(2017) Dana Fourey et al.   Circulation-Cardiovascular Genetics

Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic CardiomyopathyCLINICAL PERSPECTIVE

(2017) Samantha Barratt Ross et al.   Circulation-Cardiovascular Genetics

Nonfamilial Hypertrophic CardiomyopathyCLINICAL PERSPECTIVE

(2017) Jodie Ingles et al.   Circulation-Cardiovascular Genetics

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

(2016) Roddy Walsh et al.   GENETICS IN MEDICINE

Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies

(2016) Martín F. Ortiz-Genga et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Going global by adapting local: A review of recent human adaptation

(2016) S. Fan et al.   SCIENCE

How Hypertrophic Cardiomyopathy Became a Contemporary Treatable Genetic Disease With Low Mortality

(2016) Barry J. Maron et al.   JAMA Cardiology

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain

(2015) Diego García-Giustiniani et al.   HEART

New Perspectives on the Prevalence of Hypertrophic Cardiomyopathy

(2015) Christopher Semsarian et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Nationwide Study on Hypertrophic Cardiomyopathy in Iceland

(2014) Berglind Adalsteinsdottir et al.   CIRCULATION

Hypertrophic cardiomyopathy in the developing world: focus on India

(2014) B. J. Maron et al.   EUROPEAN HEART JOURNAL

2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy

(2014)   EUROPEAN HEART JOURNAL

Novel genotype–phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy

(2014) Luis R Lopes et al.   HEART

A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM Risk-SCD)

(2013) C. O'Mahony et al.   EUROPEAN HEART JOURNAL

Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy

(2013) Yubao Zou et al.   MOLECULAR BIOLOGY REPORTS

Two founder mutations in the alpha-tropomyosin and the cardiac myosin-binding protein C genes are common causes of hypertrophic cardiomyopathy in the Finnish population

(2012) Pertti Jääskeläinen et al.   ANNALS OF MEDICINE

Cardiac Myosin Binding Protein-C Mutations in Families With Hypertrophic Cardiomyopathy

(2012) Stephen P. Page et al.   Circulation-Cardiovascular Genetics

Structural Insight into Unique Cardiac Myosin-binding Protein-C Motif

(2012) Jack W. Howarth et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands

(2011) I. Christiaans* et al.   Netherlands Heart Journal

Short Communication: The Cardiac Myosin Binding Protein C Arg502Trp Mutation

(2010) Adam J. Saltzman et al.   CIRCULATION RESEARCH

Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives

(2008) Paal Skytt Andersen et al.   HUMAN MUTATION