Publications by authors named "Marcos Nicolas Cicerchia"
Article Synopsis
- Variants in the cardiac myosin-binding protein C gene are a significant cause of hypertrophic cardiomyopathy (HCM) in children, with 62 patients studied showing varying clinical outcomes.
- The study followed these patients, finding a 14.5% rate of major adverse cardiac events (MACE) and an 8% mortality rate, with a notable portion experiencing life-threatening ventricular arrhythmias.
- Results indicate that children with one or two P/LP variants have different risks for MACE, underscoring the need for tailored clinical management based on specific genetic subtypes in childhood HCM.
Genotype-phenotype correlations in hypertrophic cardiomyopathy: a multicenter study in Portugal and Spain of the TPM1 p.Arg21Leu variant.
Arsonval Lamounier Junior Alba Guitián González Alejandro Rodríguez Vilela Alfredo Repáraz Andrade Álvaro Rubio Alcaide Marcos Nicolás Cicerchia
Rev Esp Cardiol (Engl Ed)
March 2022
Introduction And Objectives: TPM1 is one of the main hypertrophic cardiomyopathy (HCM) genes. Clinical information on carriers is relatively scarce, limiting the interpretation of genetic findings in individual patients. Our aim was to establish genotype-phenotype correlations of the TPM1 p.
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