50. Case Report: Hereditary Restrictive Cardiomyopathy Duke University

Published: Aug. 26, 2020, 4:12 a.m.

CardioNerds\xa0(Amit Goyal\xa0&\xa0Dan Ambinder)\xa0discuss a case of hereditary restrictive cardiomyopathy with Duke University cardiology fellows Navid\xa0Nafissi and Sipa Yankey, and Marat Fudim, an advanced heart failure attending. E-CPR is provided by Dr. Richa Agarwal, fellowship program director of advanced heart failure and cardiac transplantation at Duke University with a final message by fellowship director Dr. Anna Lisa Crowley. Episode notes were developed by Johns Hopkins internal medicine resident Colin Blumenthal with mentorship from University of Maryland cardiology fellow Karan Desai.\xa0\xa0\n\n\n\n\n\nJump to: Patient summary - Case figures & media - Case teaching - Educational video - References - Production team\n\n\n\n\n\n\n\nEpisode graphic by Dr. Carine Hamo\n\n\n\n\n\n\n\nThe\xa0CardioNerds Cardiology Case Reports\xa0series shines light on the hidden curriculum of medical storytelling. We learn together while discussing fascinating cases in this fun, engaging, and educational format. Each episode ends with an\xa0\u201cExpert CardioNerd Perspectives & Review\u201d (E-CPR)\xa0for a nuanced teaching from a content expert. We truly believe that hearing about a patient is the singular theme that unifies everyone at every level, from the student to the professor emeritus.\n\n\n\nWe are teaming up with the\xa0ACC FIT Section\xa0to use the\xa0#CNCR episodes\xa0to showcase CV education across the country in the era of virtual recruitment. As part of the recruitment series, each episode features fellows from a given program discussing and teaching about an interesting case as well as sharing what makes their hearts flutter about their fellowship training. The case discussion is followed by both an\xa0E-CPR\xa0segment and a message from the program director.\n\n\n\nCardioNerds Case Reports PageCardioNerds Episode PageCardioNerds AcademySubscribe to our newsletter- The HeartbeatSupport our educational mission by becoming a Patron!Cardiology Programs Twitter Group created by Dr. Nosheen Reza\n\n\n\n\n\n\n\n\n\n\n\nPatient Summary\n\n\n\nA 69\xa0yo\xa0M with history of atrial fibrillation presents with 5 months of progressive HF symptoms, now NYHA class IV. He was found to be grossly volume overloaded, tachycardic in atrial fibrillation, and hypoxic. CXR demonstrated significant cardiomegaly, and labs indicated new normocytic anemia with evidence of hepatic dysfunction and an elevated NT\xa0proBNP.\xa0TTE demonstrated massive bi-atrial enlargement, preserved ejection fraction,\xa0filling pattern consistent with grade III diastolic dysfunction, and torrential TR. The echocardiogram did not have evidence of constrictive pericarditis and agitated saline study showed Right to Left shunt through a likely PFO. MRI to evaluate for infiltrative cardiomyopathy did not show late gadolinium enhancement (LGE). RHC demonstrated findings consistent with restrictive cardiomyopathy including equalization of diastolic pressures, square root sign, and concordance of RV and LV pressures.\xa0PYP scan\xa0evaluating for TTR amyloid\xa0was negative and laboratory workup did not suggest\xa0AL amyloid,\xa0Fabry's, Hemochromatosis, or storage disease. Patient's symptoms remained refractory and thus eventually underwent successful OHT. Genetic testing eventually revealed missense mutation in MYBPC3 \u2013 revealing an inherited cause of restrictive CM for the patient!\xa0\n\n\n\n\n\n\n\n\nCase Media\n\n\n\n\nChest X-ray-Rate-controlled A fib with frequent PVCs, LPFB, non-specific ST changes\n\n\n\n\n\n\nhttps://youtu.be/LTUaLd2R7js\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\nEpisode Schematics & Teaching\n\n\n\nClick to enlarge ???\n\n\n\n\n\n\n\nThe CardioNerds 5! \u2013 5 major takeaways from the #CNCR case\n\n\n\nWhen thinking about the etiology\xa0of a restrictive cardiomyopathy, we can organize the causes into four major categories:\xa0Infiltrative (e.g., amyloidosis, sarcoidosis)\xa0Storage diseases (e.g., hemochromatosis, Fabry's)\xa0Non-infiltrative (e.g., idiopathic, diabetic cardiomyopathy, genetic causes)\xa0Endomyocardial (e.g., endomyocardial fibrosis,\xa0hypereosinophilic\xa0syndrome)\xa0On examination, patients with restrictive cardiomyopathy may have prom...