The authors present case reports and discuss the potential causes of unexplained left ventricular hypertrophy (LVH), including hypertrophic cardiomyopathy (HCM), Fabry disease, AL-amyloidosis and ATTR-amyloidosis. Disease-modifying medications have been approved for the treatment of the last three disorders. Family history and genetic tests are essential for diagnosis of HCM, Fabry disease, hereditary ATTR-amyloidosis and other genetic diseases. In patients with unexplained LVH, extracardial signs and symptoms can be the key to correct diagnsosis, e.g. polyneuropathy and nephrotic syndrome in systemic amyloidosis, angiokeratoma and neuropathic pain in Fabry disease, progressive myopathy in Pompe disease, etc. Diagnosis of amyloidosis generally requires histological verification.
Left ventricular hypertrophy, hypertrophic cardiomyopathy, Fabry disease, amyloidosis.