![Cardionerds: A Cardiology Podcast artwork](https://is5-ssl.mzstatic.com/image/thumb/Podcasts123/v4/e5/8b/04/e58b0459-8efd-3f60-5bc1-88eea8c675e0/mza_13572800692361021826.png/100x100bb.jpg)
50. Case Report: Hereditary Restrictive Cardiomyopathy – Duke University
Cardionerds: A Cardiology Podcast
English - August 26, 2020 04:12 - 1 hour - 30.1 MB - ★★★★★ - 370 ratingsMedicine Health & Fitness Education Homepage Download Apple Podcasts Google Podcasts Overcast Castro Pocket Casts RSS feed
CardioNerds (Amit Goyal & Dan Ambinder) discuss a case of hereditary restrictive cardiomyopathy with Duke University cardiology fellows Navid Nafissi 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.
Jump to: Patient summary - Case figures & media - Case teaching - Educational video - References - Production team
Episode graphic by Dr. Carine Hamo
The CardioNerds Cardiology Case Reports series 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 “Expert CardioNerd Perspectives & Review” (E-CPR) for 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.
We are teaming up with the ACC FIT Section to use the #CNCR episodes to 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 E-CPR segment and a message from the program director.
CardioNerds 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
Patient Summary
A 69 yo M 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 proBNP. TTE demonstrated massive bi-atrial enlargement, preserved ejection fraction, filling 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. PYP scan evaluating for TTR amyloid was negative and laboratory workup did not suggest AL amyloid, Fabry's, Hemochromatosis, or storage disease. Patient's symptoms remained refractory and thus eventually underwent successful OHT. Genetic testing eventually revealed missense mutation in MYBPC3 – revealing an inherited cause of restrictive CM for the patient!
Case Media
Chest X-ray-Rate-controlled A fib with frequent PVCs, LPFB, non-specific ST changes
https://youtu.be/LTUaLd2R7js
Episode Schematics & Teaching
Click to enlarge ???
The CardioNerds 5! – 5 major takeaways from the #CNCR case
When thinking about the etiology of a restrictive cardiomyopathy, we can organize the causes into four major categories: Infiltrative (e.g., amyloidosis, sarcoidosis) Storage diseases (e.g., hemochromatosis, Fabry's) Non-infiltrative (e.g., idiopathic, diabetic cardiomyopathy, genetic causes) Endomyocardial (e.g., endomyocardial fibrosis, hypereosinophilic syndrome) On examination, patients with restrictive cardiomyopathy may have prom...