A 66-year-old African American software engineer with hypertension (diagnosed 2 years ago on his annual exam) is referred to your clinic with newly diagnosed Heart failure with preserved ejection fraction (HFpEF). His echocardiogram shows biatrial enlargement, concentric left ventricular hypertrophy (LVH) with a wall thickness of 1.6 cm, and evidence of diastolic dysfunction. His blood pressure has been well controlled on a low dose of one antihypertensive medication (lisinopril 2.5mg daily), and he has had regular medical checkups for his entire life.
Additional past medical history: Torn right biceps muscle
"I was carrying my heavy laptop bag with extra batteries"
Past surgical history: Bilateral carpal tunnel release surgery 15 years ago with repeat surgery 1 year ago
"Because I am on the computer all the time for my job"
Medications: Lisinopril 2.5 mg daily. He reports feeling very "dizzy" if he takes a higher dose.
Family history: Mother, aunt, and grandfather had hypertensive heart disease and "CHF"
Which of the following is NOT a clinical clue in this patient's case that should make you think about cardiac amyloidosis?
Show Answer
The correct answer is: E. History of hypertension for the last 2 years.
Rationale:
In a patient with HFpEF and unexplained left ventricular wall thickness of >1.4 cm, an evaluation for cardiac amyloidosis is indicated. Hypertension for 2 years that has been well treated would be an unlikely cause of this patient's echocardiographic findings and clinical diagnosis. In this case, there are numerous clinical clues that should serve as "red flags" to prompt the clinician to consider the diagnosis of cardiac amyloidosis. Specifically, the patient is male, over 65 years old, self-identified Black race, intolerant of antihypertensive medications, has orthopedic manifestations of transthyretin amyloidosis (bilateral carpal tunnel syndrome with recurrence as well as unprovoked biceps tendon rupture), and a family history of cardiomyopathy. A high index of suspicion is needed to make a diagnosis of cardiac amyloidosis. In this case, it would be easy to attribute the patient's carpal syndrome to his job; however, bilateral disease and recurrence of symptoms should be considered a red flag. Similarly, while the patient attributed his biceps tendon rupture to carrying his "heavy" computer bag with extra batteries, this weight alone should not have caused a biceps tendon rupture. Finally, the family history of hypertensive heart disease likely was misdiagnosed cardiac amyloidosis. Particularly as the most common TTR mutation in the US has an allele prevalence of 3-4% within the African American population.
References
Kittleson MM, Maurer MS, Ambardekar AV, et al. Cardiac Amyloidosis: Evolving Diagnosis and Management: A Scientific Statement From the American Heart Association. Circulation 2020;142:e7-e22.
Witteles RM, Bokhari S, Damy T, et al. Screening for Transthyretin Amyloid Cardiomyopathy in Everyday Practice. JACC Heart Fail 2019;7:709-16.
Jacobson DR, Alexander AA, Tagoe C, Buxbaum JN. Prevalence of the amyloidogenic transthyretin (TTR) V122I allele in 14 333 African-Americans. Amyloid 2015;22:171-4.
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