The Importance of Determining the Etiology of Left Ventricular Hypertrophy

John Jefferies, MD, of the University of Tennessee Health Science Center, discusses the importance of determining the etiology of left ventricular hypertrophy(LVH) to determine if it is a genetic problem (such as Fabry disease).
Fabry disease is a rare lysosomal storage disorder that results in the cellular buildup of globotriaosylceramide. Common features of Fabry disease include acroparesthesias, angiokeratomas, hypohidrosis, corneal opacity, gastrointestinal problems, tinnitus, and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. A cardiologist is often the first specialist to diagnose a Fabry disease patient.
As Dr. Jefferies explains, LVH is a common problem but it is also a common symptom in Fabry disease. Therefore, it is important for cardiologists to determine the cause of LVH. In most cases, it is due uncontrolled hypertension or kidney disease. However, if the cause is Fabry disease, then treatment can be geared towards enzyme replacement therapy to address the etiology of the cardiomyopathy.
To learn more about this and other rare diseases that impact the heart, visit checkrare.com/diseases/heart-diseases/

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