SHM Converge Scientific Abstract ePoster Gallery-Heart Failure With Reduced Ejection Fraction and Suspicious Imaging: Anderson-Fabry Disease in Question

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This case describes a 63-year-old man with heart failure with reduced ejection fraction (HFrEF), diabetes, and recent amputation who presented with worsening dyspnea and fluid overload. Transthoracic echocardiography showed a moderately dilated left ventricle, global hypokinesis, EF of 36%, severe left atrial dilation, mild right atrial dilation, mild mitral and tricuspid regurgitation, and markedly reduced global longitudinal strain (-11%). Although wall thickness was preserved, the abnormal strain pattern and chamber dilation raised concern for an infiltrative or storage cardiomyopathy.<br /><br />Fabry disease was specifically considered because it is a rare X-linked lysosomal storage disorder that often presents with cardiac manifestations and can be mistaken for more common causes of cardiomyopathy such as hypertension or diabetes. Typical cardiac findings include left ventricular hypertrophy, fibrosis, atrial enlargement, reduced strain, and systolic dysfunction. In this patient, the echocardiographic abnormalities, along with systemic disease features, prompted genetic testing for GLA mutations.<br /><br />The report emphasizes that Fabry disease should be included in the differential diagnosis of unexplained nonischemic HFrEF, especially when multisystem involvement is present. Early diagnosis through enzyme assays and genetic testing is important because enzyme replacement therapy or chaperone therapy can slow progression and improve outcomes. The patient was managed with guideline-directed heart failure therapy, including diuretics, ACE inhibitors, beta-blockers, and spironolactone, and his diabetes treatment was optimized.<br /><br />Overall, the case highlights the diagnostic value of echocardiography in identifying suspicious patterns that may point to Fabry disease and the importance of recognizing rare causes of cardiomyopathy before irreversible damage occurs.

Asset Subtitle

Nandhini Ravichandran

Meta Tag

Author List Nandhini Ravichandran, Otfried Neidermaier, Prakruti Pandya

Category Clinical Vignettes

Concept Fabry Disease

Concept Fabry Cardiomyopathy

Concept Nonischemic Cardiomyopathy

Concept Heart Failure with Reduced Ejection Fraction

Concept Genetic Testing

Distinguished Non-Finalist

Presenter Organization Summa Health System

Presenting Author Nandhini Ravichandran

Track Adult

Keywords

Fabry disease

HFrEF

cardiomyopathy

echocardiography

global longitudinal strain

GLA mutation

lysosomal storage disorder

left ventricular dysfunction

heart failure

genetic testing

Fabry Disease

Fabry Cardiomyopathy

Nonischemic Cardiomyopathy

Heart Failure with Reduced Ejection Fraction

Genetic Testing