Dilated cardiomyopathy phenotype in a female patient with Danon disease

    Authors

    Keywords

    dilated cardiomyopathy, Danon disease

    DOI

    https://doi.org/10.15836/ccar2023.174

    Full Text

    Background : Danon disease (DD) is a rare X-linked dominant cardioskeletal myopathy, caused by mutations in the Lysosome-Associated Membrane Protein-2 gene (LAMP-2). The X-linked inheritance causes differences in phenotypic severity between males and female ( 1 ). Classical clinical features in males include skeletal myopathy, mental retardation, and hypertrophic cardiomyopathy (HCM), while female carriers show a later onset of milder symptoms and an equal prevalence of dilated cardiomyopathy and HCM ( 2 ). Case report : We report a case of a female patient who first presented in 2015 at the age of 26 years with a transient ischemic attack. Initial echocardiographic assessments revealed typical images of dilated cardiomyopathy with a mildly reduced left ventricular ejection fraction at 45%, a moderately dilated left ventricle (EDD 60 mm) with normal wall thickness (11 mm). Clinically she was NYHA 2 class, her ECG showed sinus rhythm and no paroxysms of atrial fibrillation could be verified, while coronary artery disease was ruled out. Guidelines directed medical therapy was started along with warfarin, and in 2017 a CRT-D was implanted. Over the course of years, her EFLV gradually deteriorated to 25% in 2019, while the dimensions of the left ventricle remained almost the same, with development of severe symptoms (NYHA 3). Genetic analysis, using targeted next generation sequencing, showed that the patient carried a LAMP2 missense variant, c.928G > A, confirming the DD. The patient was included to the heart transplantation waiting list, and in 2020 a successful heart transplantation was performed. Conclusion : Although the DD is typically associated with HCM phenotype, the dilated cardiomyopathy phenotype is also prevalent in women, confirming phenotypic heterogeneity of DD, while genetic testing is essential for diagnosis.

    Cardiologia Croatica
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    Dilated cardiomyopathy phenotype in a female patient with Danon disease

    Extended Abstract
    Issue5-6
    Published
    Pages174
    PDF via DOIhttps://doi.org/10.15836/ccar2023.174
    dilated cardiomyopathy
    Danon disease

    Authors

    Mario Udovičić*ORCIDDubrava University Hospital, Zagreb, Croatia
    Hrvoje FalakORCIDDubrava University Hospital, Zagreb, Croatia
    Anđela JurišićORCIDDubrava University Hospital, Zagreb, Croatia
    Vanja Ivanović MihajlovićORCIDDubrava University Hospital, Zagreb, Croatia
    Danijela GrizeljORCIDDubrava University Hospital, Zagreb, Croatia
    Sandra Jakšić JurinjakORCIDUniversity Hospital Center Zagreb, Zagreb, Croatia
    Igor RudežORCIDDubrava University Hospital, Zagreb, Croatia
    Šime ManolaORCIDDubrava University Hospital, Zagreb, Croatia

    Full Text

    Background : Danon disease (DD) is a rare X-linked dominant cardioskeletal myopathy, caused by mutations in the Lysosome-Associated Membrane Protein-2 gene (LAMP-2). The X-linked inheritance causes differences in phenotypic severity between males and female ( 1 ). Classical clinical features in males include skeletal myopathy, mental retardation, and hypertrophic cardiomyopathy (HCM), while female carriers show a later onset of milder symptoms and an equal prevalence of dilated cardiomyopathy and HCM ( 2 ). Case report : We report a case of a female patient who first presented in 2015 at the age of 26 years with a transient ischemic attack. Initial echocardiographic assessments revealed typical images of dilated cardiomyopathy with a mildly reduced left ventricular ejection fraction at 45%, a moderately dilated left ventricle (EDD 60 mm) with normal wall thickness (11 mm). Clinically she was NYHA 2 class, her ECG showed sinus rhythm and no paroxysms of atrial fibrillation could be verified, while coronary artery disease was ruled out. Guidelines directed medical therapy was started along with warfarin, and in 2017 a CRT-D was implanted. Over the course of years, her EFLV gradually deteriorated to 25% in 2019, while the dimensions of the left ventricle remained almost the same, with development of severe symptoms (NYHA 3). Genetic analysis, using targeted next generation sequencing, showed that the patient carried a LAMP2 missense variant, c.928G > A, confirming the DD. The patient was included to the heart transplantation waiting list, and in 2020 a successful heart transplantation was performed. Conclusion : Although the DD is typically associated with HCM phenotype, the dilated cardiomyopathy phenotype is also prevalent in women, confirming phenotypic heterogeneity of DD, while genetic testing is essential for diagnosis.