Physician Update: AHA Special Edition
Read more articles from our most relevant research presented at the 2023 AHA Scientific Sessions.
Clinical Heart and Vascular Center
The American Heart Association created the Laennec Fellow in Training Clinician Award to recognize the importance of clinical analytic skills and acumen among fellows in cardiology. The award is named after René Laënnec, a French physician and pioneer in respiratory medicine who invented the stethoscope. The highly competitive award has been bestowed annually at the AHA Scientific Sessions meeting since 2010. Five exceptional cases are selected as finalists and presented at the meeting. Reynaldo Sanchez, M.D., a third-year cardiology fellow at UT Southwestern, was selected as a finalist and won the #AHA23 Laennec Fellow in Training Clinician Award, becoming the first UT Southwestern fellow to earn the distinction. Nick Hendren, M.D., served as senior author and mentor for Dr. Sanchez.
The case involved a 22-year-old uninsured male who presented in cardiogenic shock due to a dilated cardiomyopathy and required temporary mechanical support. The patient’s thin body habitus combined with bilateral ptosis and subtle upper-extremity weakness proved crucial in raising suspicion for a mitochondrial myopathy. A subsequent muscle biopsy confirmed the presence of a mitochondrial myopathy known as Kearns-Sayre syndrome (KSS). Notably, KSS is not associated with a dilated cardiomyopathy, and concurrent genetic testing identified a pathogenic mutation in the plakophilin-2 protein (PKP2) gene.
The PKP2 protein is crucial in the structure of desmosomes, proteins that attach two adjacent myocytes to one another. Pathogenic mutations in this protein can result in arrhythmogenic cardiomyopathy (ARVC). Ultimately, the patient obtained insurance and underwent an uncomplicated heart transplant. His native heart pathology revealed fibrofatty myocyte replacement, confirming a diagnosis of ARVC, undoubtedly related to the PKP2 mutations.
“This case underscores the importance of a detailed physical exam, genetic testing, and multidisciplinary cooperation for high-acuity, complex patients.”
This case underscores the importance of a detailed physical exam, genetic testing, and multidisciplinary cooperation for high-acuity, complex patients. In this case, that approach led to the correct diagnosis of a coexistent arrhythmogenic cardiomyopathy from a PKP2 mutation in the background of KSS.