Publications by authors named "Maria Teresa Basurte-Elorz"
Article Synopsis
- * The study involved analyzing genetic data from over 7,400 people with DCM or LVNC and found that this variant is significantly more common in these patients compared to larger control groups, indicating a strong association.
- * Among individuals carrying this variant, nearly 72% exhibited DCM or LVNC, with a notable portion also having congenital heart defects; however, the overall disease progression was mild, with few experiencing severe complications over an extended follow-up period.
Transthyretin (TTR) amyloid cardiomyopathy (ATTR-CM) is a life-threatening disease caused by the abnormal production of misfolded TTR protein by liver cells, which is then released systemically. Its amyloid deposition in the heart is linked to cardiac toxicity and progression toward heart failure. A human induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells (PBMCs) from a patient suffering familial transthyretin amyloid cardiomyopathy carrying a c.
View Article and Find Full Text PDFBackground: Although transthyretin cardiac amyloidosis (ATTR-CA) is often underdiagnosed, clinical suspicion is essential for early diagnosis.
Objectives: The aim of this study was to develop and validate a feasible prediction model and score to facilitate the diagnosis of ATTR-CA.
Methods: This retrospective multicenter study enrolled consecutive patients who underwent Tc-DPD scintigraphy for suspected ATTR-CA.
Background: Although genotyping allows family screening and influences risk-stratification in patients with nonischemic dilated cardiomyopathy (DCM) or isolated left ventricular systolic dysfunction (LVSD), its result is negative in a significant number of patients, limiting its widespread adoption.
Objectives: This study sought to develop and externally validate a score that predicts the probability for a positive genetic test result (G+) in DCM/LVSD.
Methods: Clinical, electrocardiogram, and echocardiographic variables were collected in 1,015 genotyped patients from Spain with DCM/LVSD.
Background: The clinical relevance of genetic variants in nonischemic dilated cardiomyopathy (DCM) is unsettled.
Objectives: The study sought to assess the prognostic impact of disease-causing genetic variants in DCM.
Methods: Baseline and longitudinal clinical data from 1,005 genotyped DCM probands were retrospectively collected at 20 centers.
Aims: The aim of this study was to determine the frequency of heterozygous truncating ALPK3 variants (ALPK3tv) in patients with hypertrophic cardiomyopathy (HCM) and confirm their pathogenicity using burden testing in independent cohorts and family co-segregation studies.
Methods And Results: In a discovery cohort of 770 index patients with HCM, 12 (1.56%) were heterozygous for ALPK3tv [odds ratio(OR) 16.
Aims: Dilated cardiomyopathy (DCM) associated with dystrophin gene (DMD) mutations in individuals with mild or absent skeletal myopathy is often indistinguishable from other DCM forms. We sought to describe the phenotype and prognosis of DMD associated DCM in DMD mutation carriers without severe skeletal myopathy.
Methods And Results: At 26 European centres, we retrospectively collected clinical characteristics and outcomes of 223 DMD mutation carriers (83% male, 33 ± 15 years).