BackgroundThe Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2 (PRKAG2) cardiac syndrome is characterized by glycogen accumulation in the cardiac tissue. The disease presents clinically with hypertrophic cardiomyopathy (HCM), and it is often associated with conduction abnormalities.Case presentationA 23 year-old female with history of Wolff-Parkinson-White (WPW) and HCM presented for evaluation after an episode of Non-ST Elevation Myocardial Infarction (NSTEMI). The patient was found to have severe coronary bridging on angiography and underwent an unroofing of the left anterior descending artery (LAD). Due to the constellation of symptoms, the patient underwent genetic testing and a cardiac muscle biopsy. Genetic testing was significant for an Arg302Gln mutation in the PRKAG2 gene. Cardiac tissue biopsy revealed significant myocyte hypertrophy and large vacuoles with glycogen stores.ConclusionThe pathologic and genetics findings of our patient are consistent with PRKAG2 syndrome. Patients presenting with conduction abnormalities and suspected HCM should be considered for genetic testing to identify possible underlying genetic etiologies.

Over 50% of people who rapidly ascend to extreme altitudes develop various symptoms known as acute mountain sickness (AMS), which rarely can be life threatening. It is unclear why some people are more susceptible to AMS than others. Our objective was to determine whether patent foramen ovale (PFO) is a risk factor for AMS. Subjects who had hiked to altitudes above 10,000' (~3,000 meters) on the John Muir Trail in California were recruited. Participants completed a questionnaire and two-physician adjudication was performed in regard to AMS status. A transcranial Doppler with agitated saline contrast injection was performed to evaluate the presence or absence of PFO. The primary outcome was the development of AMS. From 2016 to 2018, 137 hikers were recruited into the study. There was a higher prevalence of PFO in hikers with AMS 15/24 (63%) compared to hikers without AMS 44/113 (39%); p = 0.034. In the multivariate model, the presence of a PFO significantly increased the risk for developing AMS: OR 4.15, 95% CI 1.14-15.05; p = 0.030. In conclusion, hikers with a PFO had significantly higher risk of developing AMS relative to hikers without a PFO. Clinicians should consider PFO a risk factor in people who plan to hike to high altitudes.

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