A5052593416- Cardiomyopathy and Myosin Studies
- Congenital heart defects research
- Cardiovascular Effects of Exercise
- Cardiac pacing and defibrillation studies
- Cardiovascular Function and Risk Factors
- Trypanosoma species research and implications
- Cardiac electrophysiology and arrhythmias
IPO Porto
2024
Universidade do Porto
2024
i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto
2019
Dilated cardiomyopathy (DCM) is a disease of the heart muscle characterized by ventricular dilatation and impaired systolic function. Familial forms account for 30-50% cases. Autosomal dominant inheritance predominant pattern transmission. Causal genetic variants have been identified in several genes molecular diagnosis has implications counseling risk stratification. We aimed to estimate frequency basis DCM Portugal. performed multicenter study unrelated patients, recruited between 2013...
Background . Sudden cardiac death (SCD) risk stratification in dilated cardiomyopathy (DCM) has been based on left ventricular ejection fraction (LVEF), even though SCD may occur with LVEF > 35%. Family history of unexplained SCD, especially the young, raises concern about potential inheritable factors. It remains largely unknown how genetic tests can be integrated into clinical practice, particularly selection implantable cardioverter defibrillator (ICD) candidates. We aimed to assess...
ABSTRACT To investigate the clinical features and mutational spectrum underlying hypertrophic cardiomyopathy (HCM) in São Miguel Island (Azores, Portugal), we analyzed 37 adult patients (12 sporadic, 25 familial) with positive genetic tests. Seven disease‐causing variants were identified, being two novels, three sarcomeric genes ( MYH7 , TNNT2 MYBPC3 ) one non‐sarcomeric gene ALPK3 ). The novel variants, classified as likely pathogenic (LP), involved large multi‐exon deletions MYBPC 3 (exons...
Dilated cardiomyopathy (DCM) is a disease of the heart muscle characterized by ventricular dilatation and impaired systolic function. Familial forms account for 30-50% cases. Autosomal dominant inheritance predominant pattern transmission. Causal genetic variants have been identified in several genes molecular diagnosis has implications counseling risk stratification. We aimed to estimate frequency basis DCM Portugal. performed multicenter study unrelated patients, recruited between 2013...