Your article, “Is an underlying cardiac condition causing your patient’s palpitations?” (J Fam Pract. 2021;70:60-68), listed a number of causes of palpitations in the table on page 62. However, 1 cause was noticeably missing: underlying genetic disorders, such as amyloidosis. Genetic disorders can affect the cardiac muscle and lead to increased rates of both cardiac arrhythmias and palpitations.
I recently treated a 43-year-old man who presented with shortness of breath and presyncopal episodes; his medical history included anxiety and gastritis. He previously had undergone a cervical spine fusion and was postoperatively given a diagnosis of bigeminy and frequent premature ventricular contractions (PVCs). An echocardiogram was ordered and came back negative, while a Holter monitor showed PVCs > 30%. Genetic testing was performed only after the family history offered some clues. The diagnosis was hereditary transthyretin (ATTR) amyloidosis. Now, he is awaiting cardiac magnetic resonance imaging to determine whether muscle or pericardium has been affected.
When I discussed the findings with the patient, he wisely stated, “Perhaps it is more common than studies show if patients are not normally tested until elderly or hospitalized.” This resonated with me when I considered that routine lab work done in an office would miss amyloidosis. This definitely reinforced my philosophy to always listen to the patient and take symptoms seriously, as sometimes we just haven’t figured out the true diagnosis yet.