50. Case Report: Hereditary Restrictive Cardiomyopathy – Duke University

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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.  

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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 at Duke University. 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.
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.

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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


Episode Schematics & Teaching


The CardioNerds 5! – 5 major takeaways from the #CNCR case

  1. When thinking about the etiology of a restrictive cardiomyopathy, we can organize the causes into four major categories: 
    1. Infiltrative (e.g., amyloidosis, sarcoidosis) 
    2. Storage diseases (e.g., hemochromatosis, Fabry’s) 
    3. Non-infiltrative (e.g., idiopathic, diabetic cardiomyopathy, genetic causes) 
    4. Endomyocardial (e.g., endomyocardial fibrosis, hypereosinophilic syndrome) 
  2. On examination, patients with restrictive cardiomyopathy may have prominent right-sided symptoms, including hepatomegaly, ascites, and significant peripheral edema. On exam, neck veins may demonstrate a steep y descent, and cardiac auscultation may have a +S4, and murmurs of tricuspid and mitral regurgitation.
  3. A multimodal imaging workup is recommended for evaluating RCM.  
    1. TTE: Typically demonstrates normal LVEF, normal chamber volumes, biatrial enlargement, and restrictive diastolic filling patterns (.e.g, E/A > 2, E/e’ > 14, decreased mitral deceleration time < 150 ms). We can see increased wall thickness with infiltrative processes and storage diseases.
    2. cMRI: specific patterns of Late Gadolinium Enhancement may indicate certain pathology (e.g., amyloid may demonstrate diffuse subendocardial, heterogeneous, or transmural signal). T2 signal can identify inflammation and quantify iron. 
    3. PYP scan: It has a >99% sensitivity for cardiac ATTR amyloid. If monoclonal gammopathy excluded, PPV 100%. 
  4. Invasive hemodynamics can show physiology consistent with RCM. This includes square root sign, equalization of diastolic pressures, and concordance during respiration of LV/RV pressure changes. In contrast, constrictive physiology will yield discordant respirophasic LV/RV pressure changes. Endomyocardial biopsy may be necessary to identify etiology but the yield for patchy diseases, like sarcoid, can be low. 
  5. Patients with end-stage RCM can be difficult to manage medically, especially as they become refractory to diuretics. They poorly tolerate antihypertensive agents (due to inability to augment limited stroke volume), heart rate lowering medication (due to low SV, they are dependent on HR to maintain CO which is HR x SV), and have a very limited optimal preload window (need high filling pressures to fill the stiff ventricles but also have symptoms of fluid overload). Due to anatomic considerations, patients are rarely candidates for durable left ventricular assist devices and often require orthotopic heart transplant. However, patients with RCM have higher waitlist mortality and longer wait times, in part due to lower utilization of MCS.   

Educational Video

Produced by Dr. Karan Desai

References


CardioNerds Case Reports: Recruitment Edition Series Production Team

50. Case Report: Hereditary Restrictive Cardiomyopathy – Duke University