Maria Franaszczyk
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View article: SIGMAR1 gene-related neuromuscular disorders — what do we know?
SIGMAR1 gene-related neuromuscular disorders — what do we know? Open
This article supports the pathogenicity of the c.247T>C (p.Phe83Leu) SIGMAR1 variant and underlines the need for broader genetic testing in hereditary motor neuropathies.
View article: Titin-related familial dilated cardiomyopathy: factors associated with disease onset
Titin-related familial dilated cardiomyopathy: factors associated with disease onset Open
Background and Aims Truncating variants in the TTN gene (TTNtv) are the most common genetic cause of dilated cardiomyopathy (DCM) but also occur as incidental findings in the general population. This study investigated factors associated w…
View article: Maternal Uniparental Isodisomy of Chromosome 6: A Novel Case of Teratoma and Autism Spectrum Disorder with a Diagnostic and Management Framework
Maternal Uniparental Isodisomy of Chromosome 6: A Novel Case of Teratoma and Autism Spectrum Disorder with a Diagnostic and Management Framework Open
Background: Uniparental disomy (UPD) is the inheritance of both copies of a chromosome from a single parent, leading to distinct genetic conditions. Maternal UPD of chromosome 6 (UPD(6)mat) is extremely rare, with few molecularly confirmed…
View article: Case Report: Expanded delineation of phenotype of TRPM3-related neurodevelopmental disorders
Case Report: Expanded delineation of phenotype of TRPM3-related neurodevelopmental disorders Open
The TRPM3 gene, part of the transient receptor potential (TRP) cation channel family, plays crucial roles in sensory perception and ion transport. Mutations in TRPM3 are linked to a range of neurological and developmental disorders. The c.…
View article: Rare transthyretin gene variants (p.Ala45Thr, p.Val91Ala, p.Phe53Cys, p.Ala101Val, p.Glu109Lys and p.Phe53Leu): diagnostic pitfalls and clinical characteristics of Polish patients with transthyretin cardiac amyloidosis
Rare transthyretin gene variants (p.Ala45Thr, p.Val91Ala, p.Phe53Cys, p.Ala101Val, p.Glu109Lys and p.Phe53Leu): diagnostic pitfalls and clinical characteristics of Polish patients with transthyretin cardiac amyloidosis Open
This study broadens our knowledge regarding genotype‑phenotype correlations of specific TTR variants, widens the spectrum of identified TTR variants in the Polish population, and shows limited value of [99mTc]Tc‑DPD scintigraphy in some pa…
View article: Clinical features, etiology and survival in patients with restrictive cardiomyopathy: A single center experience
Clinical features, etiology and survival in patients with restrictive cardiomyopathy: A single center experience Open
Genetic testing should be considered in every RCM patient where light-chain amyloidosis has been excluded. Survival remains poor regardless of etiology. Increased concentrations of GDF-15, hs-TNT, NT-proBNP, and pericardial effusion are as…
View article: Titin-Related Dilated Cardiomyopathy: The Clinical Trajectory and the Role of Circulating Biomarkers in the Clinical Assessment
Titin-Related Dilated Cardiomyopathy: The Clinical Trajectory and the Role of Circulating Biomarkers in the Clinical Assessment Open
Titin truncating variants (TTNtv) are known as the leading cause of inherited dilated cardiomyopathy (DCM). Nevertheless, it is unclear whether circulating cardiac biomarkers are helpful in detection and risk assessment. We sought to asses…
View article: Diabetic kidney disease: Are the reported associations with single-nucleotide polymorphisms disease-specific?
Diabetic kidney disease: Are the reported associations with single-nucleotide polymorphisms disease-specific? Open
Our results suggest that selected SNPs that were previously associated with DKD may not be specific for DKD and may confer risk for CKD of different etiology, particularly those affecting renal glomeruli.
View article: Diagnostic utility of genetic testing in restrictive cardiomyopathy a single refferal centre experience
Diagnostic utility of genetic testing in restrictive cardiomyopathy a single refferal centre experience Open
Introduction Restrictive cardiomyopathy (RCM) is considered to have a genetic background in approximately 50–60% of patients (pts) [1,2,3]. Purpose The aim of the study was to assess the frequency of pathogenic gene variants in Polish pati…
View article: Titin-Related Dilated Cardiomyopathy: The Sequence of Events and The Role of Circulating Biomarkers in The Clinical Assessment
Titin-Related Dilated Cardiomyopathy: The Sequence of Events and The Role of Circulating Biomarkers in The Clinical Assessment Open
Titin truncating variants ( TTN tv) are known as the leading cause of inherited dilated cardiomyopathy (DCM). Nevertheless, the clinical course is not fully understood and it is unclear whether circulating cardiac biomarkers are helpful in…
View article: Pathogenic variants in plakophilin-2 gene (PKP2) are associated with better survival in arrhythmogenic right ventricular cardiomyopathy
Pathogenic variants in plakophilin-2 gene (PKP2) are associated with better survival in arrhythmogenic right ventricular cardiomyopathy Open
View article: Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) in Poland — genetic and clinical presentation
Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) in Poland — genetic and clinical presentation Open
Polish ATTR-FAP cases presented with heterogeneity typical for non-endemic areas. Phe33Leu TTR mutation was the most common, found in four unrelated families.
View article: A combination of quinidine/mexiletine reduces arrhythmia in dilated cardiomyopathy in two patients with R814W <i>SCN5A</i> mutation
A combination of quinidine/mexiletine reduces arrhythmia in dilated cardiomyopathy in two patients with R814W <i>SCN5A</i> mutation Open
SCN5A gene mutations are described in 2% of patients with dilated cardiomyopathy (DCM) and different rhythm disturbances, including multifocal ectopic Purkinje‐related premature contractions. Recent data indicate that sodium channel blocke…
View article: Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the <i>TTN</i> Gene
Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the <i>TTN</i> Gene Open
Background: Truncating variants in the TTN gene (TTNtv) are the commonest cause of heritable dilated cardiomyopathy. This study aimed to study the phenotypes and outcomes of TTNtv carriers. Methods: Five hundred thirty-seven individuals (6…
View article: Spectrum of transthyretin gene mutations and clinical characteristics of Polish patients with cardiac transthyretin amyloidosis
Spectrum of transthyretin gene mutations and clinical characteristics of Polish patients with cardiac transthyretin amyloidosis Open
According to available data, this is the first time that the types of TTR mutations and the clinical characteristics of Polish patients with cardiac hereditary ATTR have been described. Previous literature data about Polish background in f…
View article: Can Circulating Cardiac Biomarkers Be Helpful in the Assessment of LMNA Mutation Carriers?
Can Circulating Cardiac Biomarkers Be Helpful in the Assessment of LMNA Mutation Carriers? Open
Mutations in the lamin A/C gene are variably phenotypically expressed; however, it is unclear whether circulating cardiac biomarkers are helpful in the detection and risk assessment of cardiolaminopathies. We sought to assess (1) clinical …
View article: Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes
Analysis of De Novo Mutations in Sporadic Cardiomyopathies Emphasizes Their Clinical Relevance and Points to Novel Candidate Genes Open
The vast majority of cardiomyopathies have an autosomal dominant inheritance; hence, genetic testing is typically offered to patients with a positive family history. A de novo mutation is a new germline mutation not inherited from either p…
View article: A young patient with left ventricular hypertrophy and accidentally discovered aortic dissection: hypertensive heart disease or hypertrophic cardiomyopathy?
A young patient with left ventricular hypertrophy and accidentally discovered aortic dissection: hypertensive heart disease or hypertrophic cardiomyopathy? Open
View article: P881 Young patient with left ventricular hypertrophy and accidentally discovered aortic dissection: hypertensive heart or hypertrophic cardiomyopathy?
P881 Young patient with left ventricular hypertrophy and accidentally discovered aortic dissection: hypertensive heart or hypertrophic cardiomyopathy? Open
A 36-year-old male with positive family history of sudden cardiac death (his uncle"s son died suddenly at the age of 25), hospitalized a month ago in a local hospital due to acute hypertensive cardiogenic pulmonary edema, was referred to o…
View article: A different background of arrhythmia in siblings with a positive family history of sudden death at young age
A different background of arrhythmia in siblings with a positive family history of sudden death at young age Open
We present two symptomatic sisters who had a positive family history of sudden death. None of them had structural heart disease. In the 25‐year‐old proband, complex ventricular arrhythmia, cardiac conduction system disease, and skeletal mu…
View article: A novel truncating variant in the LAMP2 gene in a young woman with hypertrophic cardiomyopathy and variable clinical course in the family
A novel truncating variant in the LAMP2 gene in a young woman with hypertrophic cardiomyopathy and variable clinical course in the family Open
1. Danon MJ, Oh SJ, DiMauro S, et al. (1981). Lysosomal glycogen storage disease with normal acid maltase Neurology. 31: 51-7. Google Scholar
View article: Genetic muscle disorder masquerading as atrial arrhythmias with conduction defects requiring pacemaker implantation
Genetic muscle disorder masquerading as atrial arrhythmias with conduction defects requiring pacemaker implantation Open
View article: Autosomal recessive, familial, isolated dilated cardiomyopathy due to compound desmoplakin gene mutations
Autosomal recessive, familial, isolated dilated cardiomyopathy due to compound desmoplakin gene mutations Open
View article: Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations
Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations Open
View article: Amyloidoza łańcuchów lekkich immunoglobulin z punktu widzenia kardiologa
Amyloidoza łańcuchów lekkich immunoglobulin z punktu widzenia kardiologa Open
Light-chain amyloidosis (amyloidosis AL) is diagnosed in approx. 70% of patients with cardiac amyloidosis. This type of amyloidosis has the worst prognosis, especially if the diagnosis is made in advanced stages. The majority of patients a…
View article: Severe Course of Peripartum Cardiomyopathy and Subsequent Recovery in a Patient with a Novel TTN Gene-Truncating Mutation
Severe Course of Peripartum Cardiomyopathy and Subsequent Recovery in a Patient with a Novel TTN Gene-Truncating Mutation Open
BACKGROUND Peripartum cardiomyopathy (PPCM) is a potentially life-threatening, pregnancy-associated cause of heart failure affecting previously healthy women. Recent research suggests a possible role of 16-kDa prolactin in promoting cardio…
View article: Value of multilocus genetic risk score for atrial fibrillation in end-stage kidney disease patients in a Polish population
Value of multilocus genetic risk score for atrial fibrillation in end-stage kidney disease patients in a Polish population Open
Genetic factors play a key role in the pathogenesis of atrial fibrillation (AF). We would like to establish an association between previously described single-nucleotide polymorphisms (SNPs) and AF in haemodialysed patients with end-stage …
View article: Rapid and effective response of the R222Q SCN5A to quinidine treatment in a patient with Purkinje-related ventricular arrhythmia and familial dilated cardiomyopathy: a case report
Rapid and effective response of the R222Q SCN5A to quinidine treatment in a patient with Purkinje-related ventricular arrhythmia and familial dilated cardiomyopathy: a case report Open
View article: Restrictive cardiomyopathy due to novel desmin gene mutation
Restrictive cardiomyopathy due to novel desmin gene mutation Open
View article: Titin Truncating Variants in Dilated Cardiomyopathy – Prevalence and Genotype-Phenotype Correlations
Titin Truncating Variants in Dilated Cardiomyopathy – Prevalence and Genotype-Phenotype Correlations Open
TTN gene truncating variants are common in dilated cardiomyopathy (DCM), although data on their clinical significance is still limited. We sought to examine the frequency of truncating variants in TTN in patients with DCM, including famili…