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Hypertrophic cardiomyopathy with mid-ventricular phenotype and filamin C mutation, an uncommon case report

  • Juan David Orozco Burbano
  • , Carlos H. Palacios
  • , Clara I. Saldarriaga Giraldo
  • , Luisa F. Durango Gutiérrez
  • , Juan C. Rendón Isaza

    Research output: Contribution to scientific journalArticle in an indexed scientific journalpeer-review

    Abstract

    Hypertrophic cardiomyopathy has a different presentation spectrum, including left ventricular outflow tract obstruction. The most common phenotype is the asymmetric septal variant, with the mid-apical variant being rare. On the other hand, there are specific mutations associated with hypertrophic cardiomyopathy, with the Filamin C variant being an unusual condition in these patients. Therefore, we present the case of a 23-year-old male patient with a diagnosis of hypertrophic cardiomyopathy in whom a Filamin C variant was documented. Given the inadequate response and persistence of symptoms to medical management, a myectomy procedure was performed with a transapical approach, with subsequent improvement in clinical symptoms and outflow tract obstruction. This case illustrates a rare variant with a surgical approach different from the conventional transaortic approach, with marked improvement in symptoms.

    Translated title of the contributionCardiomiopatía hipertrófica variante medio apical con mutación de la filamina C, una variante poco común. Reporte de caso
    Original languageEnglish
    Pages (from-to)167-170
    Number of pages4
    JournalArchivos Peruanos de Cardiologia y Cirugia Cardiovascular
    Volume5
    Issue number3
    DOIs
    StatePublished - 29 Sep 2024

    Bibliographical note

    Publisher Copyright:
    © 2024, National Cardiovascular Institute - INCOR. All rights reserved.

    Keywords

    • Cardiomyopathy Hypertrophic
    • Heart Failure
    • Ventricular Outflow Obstruction, Left

    Types Minciencias

    • Artículos de investigación con calidad Q4

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