A5014614421- Cardiomyopathy and Myosin Studies
- Cardiovascular Effects of Exercise
- Viral Infections and Immunology Research
- Liver Disease Diagnosis and Treatment
- Cancer Genomics and Diagnostics
- Genomics and Rare Diseases
- Genetics and Physical Performance
- RNA Research and Splicing
- Neurogenetic and Muscular Disorders Research
- BRCA gene mutations in cancer
- Sports injuries and prevention
- Vascular Tumors and Angiosarcomas
- Lipoproteins and Cardiovascular Health
- Cardiac tumors and thrombi
- Cardiac pacing and defibrillation studies
- Skin and Cellular Biology Research
- Dermatological and Skeletal Disorders
- Vascular Malformations and Hemangiomas
- Williams Syndrome Research
Helsinki University Hospital
2020-2023
University of Helsinki
2020-2023
Blueprint Genetics (Finland)
2021
Abstract Background Genetic testing in hypertrophic cardiomyopathy (HCM) is a published guideline-based recommendation. The diagnostic yield of genetic and corresponding HCM-associated genes have been largely documented by single center studies carefully selected patient cohorts. Our goal was to evaluate the heterogeneous cohort patients with clinical suspicion HCM, referred for from multiple centers around world. Methods A retrospective review suspected diagnosis HCM at Blueprint Genetics...
Background Familial dilated cardiomyopathy (DCM) causes heart failure and may lead to transplantation. DCM is typically a monogenic disorder with autosomal dominant inheritance. Currently disease-causing variants have been reported in over 60 genes that encode proteins sarcomeres, nuclear lamina, desmosomes, cytoskeleton, mitochondria. Over half of the patients undergoing comprehensive genetic testing are left without molecular diagnosis even when patient selection follows strict criteria....
Familial dilated cardiomyopathy (DCM) is typically a monogenic disorder with dominant inheritance. Although over 40 genes have been linked to DCM, more than half of the patients undergoing comprehensive genetic testing are left without molecular diagnosis. Recently, biallelic protein-truncating variants (PTVs) in nebulin-related anchoring protein gene (NRAP) were identified few sporadic DCM.We determined frequency rare NRAP cohort DCM and control further evaluate role this cardiomyopathies....
Dilated cardiomyopathy (DCM) is a condition characterized by dilatation and systolic dysfunction of the left ventricle in absence severe coronary artery disease or abnormal loading conditions. Mutations titin (TTN) lamin A/C (LMNA) genes are two most significant contributors familial DCM. Previously mutations desmoplakin (DSP) gene have been associated with arrhythmogenic right ventricular (ARVC) more recently DCM.We describe cardiac phenotype related to DSP mutation which was identified ten...
Background: Familial dilated cardiomyopathy (DCM) is a monogenic disorder typically inherited in an autosomal dominant pattern. We have identified two Finnish families with familial that not explained by variant any previously known gene. describe the cardiac phenotype related to homozygous truncating GCOM1 variants. Methods and Results: This study included probands their relatives. All participants are of ethnicity. Whole-exome sequencing was used test probands; bi-directional Sanger...
Background Pathogenic variants in DSP associate with cardiac and cutaneous manifestations including arrhythmogenic right ventricular cardiomyopathy, dilated curly or wavy hair, palmoplantar keratoderma (PPK). Episodes of myocardial inflammation associated cardiomyopathy might be confused clinical work myocarditis other etiologies such as viral. Cardiac magnetic resonance imaging (CMR) may help differential diagnosis. Methods results This study comprised 49 Finnish patients: 34 participants...
PPKs represent a heterogeneous group of disorders with hyperkeratosis palmar and/or plantar skin. PPK, hair shaft abnormalities, cardiomyopathy and arrhythmias can be caused by mutations in desmosomal genes, e.g. desmoplakin (DSP). PPK should trigger genetic testing to reveal possible related cardiac disease.To report large multigenerational family novel DSP mutation associated early-onset adult-onset arrhythmias.A custom-designed in-house panel 35 genes was used screen the index patient...
Primary tumors of the heart are a rare phenomenon. Lymphatic malformations congenital anomalies lymphatic system that tend to grow progressively. typically found in cervical and axillary regions on pediatric patients. We report 40-year-old woman with giant epimyocardial malformation.A was assessed due suspected traumatic cardiac tamponade. Computed tomography magnetic resonance imaging were compatible either large pericardial hemangioma or angiosarcoma. The tumor infiltrated deeply into...