Late diagnosis of late onset Fabry disease

Area of Science:

• Cardiology
• Genetics
• Medical Diagnostics

Background:

• Left ventricular hypertrophy (LVH) is a common cardiac finding.
• Initial diagnosis of hypertrophic cardiomyopathy can sometimes overlook underlying genetic causes.
• Delayed diagnosis of conditions like Fabry disease can lead to advanced heart failure.

Purpose of the Study:

• To highlight the diagnostic challenges in patients presenting with LVH.
• To emphasize the importance of genetic testing in unexplained cardiac conditions.
• To showcase the role of advanced imaging in cardiac diagnosis.

Main Methods:

• Transthoracic echocardiogram for initial LVH detection.
• Cardiac MRI to assess myocardial scarring.
• Endomyocardial biopsy for histological examination.
• Genetic testing for GLA gene variants.

Main Results:

• A patient initially diagnosed with hypertrophic cardiomyopathy later developed decompensated heart failure.
• Cardiac MRI revealed extensive scarring, leading to a presumptive diagnosis of cardiac amyloidosis.
• Endomyocardial biopsy was non-diagnostic for the cause of LVH.
• Genetic testing identified a GLA gene variant, indicating adult-onset Fabry disease.

Conclusions:

• Genetic testing is essential for diagnosing inherited cardiomyopathies.
• Advanced imaging modalities like cardiac MRI aid in characterizing cardiac pathology.
• Early identification of Fabry disease through genetic screening can prevent disease progression and improve patient outcomes.