AI Article Synopsis

  • Two male cousins both needed heart transplants due to severe heart failure caused by hypertrophic cardiomyopathy, one with diastolic heart failure (ejection fraction around 65%) and the other with systolic heart failure (ejection fraction around 20%).
  • Despite sharing the same gene mutations and similar heart mass and symptom onset age, their transplant outcomes differed: one had a normal-sized heart with minimal damage, while the other had a severely dilated heart with extensive scarring.
  • The study highlighted the genetic similarities between them and noted that several other family members showed signs of hypertrophic cardiomyopathy as well.

Article Abstract

Described herein are certain findings in 2 male cousins who underwent cardiac transplantation for severe heart failure (HF), one of the diastolic type (ejection fraction ≈65%), and one of the systolic type (ejection fraction ≈20%), both the consequence of hypertrophic cardiomyopathy (HC), and each had identical disease-causing gene mutations. The implanted heart in one had normal-sized ventricular cavities and no grossly visible ventricular wall lesions (except in one papillary muscle) and the other patient had severely dilated ventricular cavities and multiple extensive ventricular wall scars. The heart mass and the age of onset of symptoms was similar in each patient. A number of other family members had evidence of HC.

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http://dx.doi.org/10.1016/j.amjcard.2013.02.042DOI Listing

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