85: Case Report: Exertional Intolerance due to Tricuspid Regurgitation – Medical University of South Carolina

CardioNerds (Amit Goyal & Karan Desai) join Medical University of South Carolina cardiology fellows (Carson Keck, Samuel Powell, and Ishan Shah) at MUSC Children’s Hospital cafeteria overlooking the gorgeous Charleston Harbor. They reflect on an informative case of exertional intolerance due to tricuspid regurgitation. Dr. Ryan Tedford provides the E-CPR and program director Dr. Daniel Judge provides a message for applicants. Episode notes were developed by Johns Hopkins internal medicine resident, Eunice Dugan, with mentorship from University of Maryland cardiology fellow Karan Desai.

Jump to: Patient summaryCase mediaCase teachingReferences

CardioNerds (Amit Goyal & Karan Desai) join Medical University of South Carolina cardiology fellows (Carson Keck, Samuel Powell, and Ishan Shah) at MUSC Children's Hospital cafeteria overlooking the Charleston Harbor and reflect on informative case of exertional intolerance due to tricuspid regurgitation. Dr. Ryan Tedford provides the E-CPR and program director Dr. Daniel Judge provides a message for applicants. Episode notes were developed by Johns Hopkins internal medicine resident, Eunice Dugan, 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.

CardioNerds Case Reports Page
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Subscribe to our newsletter- The Heartbeat
Support our educational mission by becoming a Patron!
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Cardionerds Cardiology Podcast Presents CardioNerds Case Report Series

Patient Summary

Coming soon!


Case Media

A. Tricuspid valve CW Doppler
B. Hepatic vein flow

TTE: TV inflow

TTE: TV inflow with color Doppler
TTE: Apical 4 chamber
TTE: RV focused color
Cardiac MRI – 4 chamber CINE
Cardiac MRI – Short-axis stack CINE

Episode Schematics & Teaching

Coming soon!


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

Coming soon!


References

Coming soon!


CardioNerds Case Reports: Recruitment Edition Series Production Team

80. Case Report: Prosthetic Valve Endocarditis with Aortic Regurgitation – Brigham and Women’s Hospital

CardioNerds (Amit Goyal & Daniel Ambinder) join Brigham and Women’s Hospital cardiology fellows (Mounica Yanamandala, Simin Lee and Maria Pabon Porras) for some fun times at the Charles River Esplanade! They discuss a complicated case of prosthetic valve endocarditis with aortic regurgitation. Dr. Dale Adler provides the E-CPR and program director Dr. Donna Polk provides a message for applicants. Episode notes were developed by Johns Hopkins internal medicine resident Bibin Varghese with mentorship from University of Maryland cardiology fellow Karan Desai.

Jump to: Patient summaryCase mediaCase teachingReferences

CardioNerds (Amit Goyal & Daniel Ambinder) join Brigham and Women’s Hospital cardiology fellows (Mounica Yanamandala, Simin Lee and Maria Pabon Porras) for some fun times at the Charles River Esplanade! They discuss a complicated case of prosthetic valve endocarditis with aortic regurgitation. Dr. Dale Adler provides the E-CPR and program director Dr. Polk provides a message for applicants. Episode notes were developed by Johns Hopkins internal medicine resident Bibin Varghese 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.

CardioNerds Case Reports Page
CardioNerds Episode Page
CardioNerds Academy
Subscribe to our newsletter- The Heartbeat
Support our educational mission by becoming a Patron!
Cardiology Programs Twitter Group created by Dr. Nosheen Reza

CardioNerds Case Report Recruitment Series

Patient Summary

A male in his mid-40s with history of HIV on ART (undetectable VL, CD4 320) and idiopathic thoracic ascending aortic aneurysm (TAAA) with AR s/p bioprosthetic valve replacement 10 years prior presented with acute onset lightheadedness and pre-syncope. He was diagnosed with an idiopathic TAAA at age 30 after he was noted to have an incidental murmur. Over the next few years, his aortic root increased to over 7 cm with severe AR, LV dilation, and reduced LVEF of 45%. He underwent bioprosthetic aortic valve replacement and root repair with a Medtronic freestyle porcine aortic root with subsequent recovery of his  LVEF to 50% and improved LV dilation. Thereafter, he was doing well until he reported a flu like illness 3 weeks prior to presentation with reported fever up to 101.3 F and associated myalgias. He denied any sick contacts or recent travel and was adherent to his HIV regiment. On the day of presentation, he was walking his dogs when he developed acute onset lightheadedness with presyncope. On presentation, he had a low grade fever, tachycardia, tachypnea, and hypoxia. On exam, cardiac exam was notable for loud blowing diastolic murmur, non-distended JVP, decreased breath sounds, warm extremities with bounding pulses and without edema. There were no stigmata of endocarditis. Labs revealed elevated cardiac and inflammatory biomarkers. Blood cultures were initially NGTD. CXR corroborated the exam with bilateral interstitial and airspace opacification with effusions. TTE showed LVEF 35% with global hypokinesis, dilated LV with LVEDD 7.5 cm, mild RV systolic dysfunction, severe AR with holo-diastolic flow reversal in the abdominal aorta, no prosthetic stenosis, and aortic root 31 mm. TEE showed a well-seated AVR with leaflet thickening and several echodensities. CT surgery deemed patient to be high risk for the OR. After a few days, patient required intubation for increased work of breathing and acute decompensation requiring vasoactive infusions. After multidisciplinary discussions, the patient ultimately underwent ViV TAVR with successful placement of a 29 mm Edwards Sapien 3 valve. That day, he was weaned off pressors, and subsequently extubated. Infectious workup remained negative thereby resulting in a final diagnosis of prosthetic aortic valve culture-negative endocarditis vs sterile prosthetic valve deterioration. He was discharged on intravenous empiric antibiotics and was doing well in clinic 2 months later.  


Case Media

A. CXR: Bilateral airspace and interstitial opacification. Small bilateral effusions. No pneumothorax.
B. ECG
C. CW Doppler across the aortic valve
D. PW Doppler showing holodiastolic flow reversal in the descending thoracic aorta 
E. Pre-TAVR LV and aortic pressure tracings
F. Post-TAVR LV and aortic pressure tracings

TTE 1
TEE 1
TEE 2
TEE 3
TEE 4
TAVR implantation
TEE – Post TAVR
TEE – Post TAVR
TEE – Post TAVR

Episode Schematics & Teaching

Coming soon!


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

1. The patient had an idiopathic ascending aortic aneurysm. How do you typically approach the etiology for a thoracic aortic aneurysm? 

  • Let us first differentiate the terminology for the aorta. The ascending aorta includes the aortic root (which contains the sinuses of Valsalva), the aortic arch which includes the great vessels. The descending aorta begins beyond the left subclavian artery. The isthmus is the point where the aortic arch and the descending aorta join (also the site of the ductus arteriosus which turns into the ligamentum arteriosum). The abdominal aorta begins distal to the diaphragm. 
  • Thoracic Aortic Aneurysms (TAA) include aneurysms that occur from the aortic root to the crus of the diaphragm. There are various etiologies for TAAs, but the most common cause is medial necrosis. This is a non-specific pathologic finding that may be found in a number of conditions. The underlying histologic findings include loss of elastic fibers and vascular smooth muscle in the media, with accumulation of a basophilic ground substance leading to a cystic appearance.  
  • There are several ways to approach the etiology of TAAs. The causes may be classified into degenerative, genetic, infectious, inflammatory, and other causes. Genetic causes include but are not limited to Marfan’s Syndrome, Loeys-Dietz Syndrome, Ehlers-Danlos Type IV, Familial TAA, and Turner syndrome. Inflammatory conditions include giant cell arteritis, Takayasu arteritis, and HLA-B27 associated spondyloarthropathies. An important infectious cause includes syphilis as we have previously discussed on our CNCR Series: Ep #47 – Syphilitic Aortitis!  
  • Generally, aortopathies occurring proximal to the ligamentum arteriosum are more likely to be genetic while those occurring distally are more likely to be degenerative (related to atherosclerotic risk factors). 
  • Remember, in terms of management, TAAs tend to grow more rapidly as they become larger and depending on the etiology, there may be a lower cut-off for elective procedures as the guidelines suggest earlier intervention for specific conditions. For instance, patients with Loeys-Dietz (amongst other genetic syndromes), can be considered for elective TAA at aneurysms less than 50 mm given the high occurrence of dissection after 50 mm. The approach should be individualized to the patient’s underlying condition, body size and sex (as there may be smaller absolute aortic root size and diameter in women). 

2. The patient had well controlled HIV and developed a TAA. What are the known cardiovascular risks associated with HIV? 

  • Cardiovascular disease, including myocardial, pericardial, and vascular (including coronary) disease, has become a major cause of morbidity and mortality in patients with HIV 
  • Vascular disease likely has several causes including traditional risk factors (e.g., diabetes, hypertension) and chronic inflammation which leads to accelerated atherosclerosis. Recall from the CardioNerds Prevention Series that HIV is a key “risk-enhancing factor”! 
  • HIV is an important cause of heart failure, including HIV-associated dilated cardiomyopathy. Some data has suggested that the HIV-1 virus may infect myocardial cells directly in a patchy distribution leading to progressive damage and fibrosis. Furthermore , underlying ischemia, co-infection with other pathogens (e.g., EBV, CMV, coxsackievirus B), cardiac autoimmunity, and drug toxicities can contribute to the development of HF. Patients with HIV are additionally at higher risk of developing HFpEF. The mechanism remains to be elucidated, though the extent of chronic inflammation, T-cell activation, and loss of adaptive immunity likely all play a role.  
  • Pericardial disease and specifically pericarditis was the most common manifestation of HIV-associated cardiac disease prior to the advent of potent ART. 
  • Other manifestations include pulmonary arterial hypertension (WHO Group 1), increased risk of venous thromboembolism, and possibly sudden cardiac death. Infective endocarditis rates are similar to patients without HIV, once corrected for other exposures (e.g., IV drug use).  

3. The patient developed a new loud decrescendo blowing diastolic murmur which was concerning for aortic regurgitation. What are the other physical exam findings associated with aortic regurgitation? 

  • As we reviewed in previous episodes (Ep #47 – Syphilitic Aortitis), the physical exam of patients with chronic AR is full of classic findings and eponyms! The classic murmur of AR is a diastolic, blowing, decrescendo murmur heard in the LUSB. The severity of AR correlates with the duration of the murmur more than the intensity. The increased blood flow across the AV can lead to a systolic flow murmur in the RUSB, and the regurgitant blood flow can limit opening of the MV causing a diastolic murmur best heard at the apex called the Austin-Flint murmur. 
  • Note, in chronic AR there is a rapid increase in systole BP and fall in diastole, leading to a widened pulse pressure and bounding pulses. Some physical exam findings (not an all-inclusive list!) associated with hyperdynamic pulse are included below. Note, some of these findings are not necessarily specific to chronic AR alone, but can also be seen in other states of hyperdynamic circulation.  
    • Water hammer pulse: a bounding pulse with rapid systolic rise followed by rapid diastolic collapse that can be best appreciated at the radial or brachial artery. It is accentuated by slightly lifting up the patient’s arm. 
    • Corrigan’s pulse: bounding carotid pulse with rapid rise and collapse 
    • Traube sign: “pistol shot” sounds heard over femoral arteries in both systole and diastole 
    • Duroziez sign: diastolic murmur heard over the femoral artery after compressing distally or a systolic murmur when compressed proximally  
    • Quincke’s pulse: capillary pulsations in the nail beds  
    • Muller’s sign:  pulsations of the uvula 
    • de Musset sign: head bobbing synchronous with heartbeat 
    • Becker’s sign: visible pulsations of the retinal arteries on ophthalmoscopic examination 
    • Hill sign: positive when the popliteal cuff systolic pressure exceeds the brachial cuff systolic pressure by > 60 mmHg 
  1. The etiology of the acute onset aortic regurgitation was thought to be from infective endocarditis. Returning to basics, what are the criteria for infective endocarditis? 
  • The Duke Criteria are the most sensitive and specific diagnostic criteria for diagnosing native valve infective endocarditis. However, for prosthetic valve endocarditis (PVE), the Duke criteria have decreased sensitivity and specificity. For possible endocarditis or “rejected” endocarditis based on Duke Criteria where there is a persistent suspicion of PVE, further advanced imaging should be considered including TEE, 18F-FDG PET/CT, and/or 4D cardiac CTA.  
  • There are pathologic and clinical Duke Criteria. The clinical criteria are included below from the Chambers and Bayer NEJM article  
  • A “definite” clinical diagnosis of infective endocarditis requires two major criteria, or one major and three minor or five minor criteria. “Possible” clinical diagnosis of IE includes one major criteria and one minor criteria or three minor criteria. A “rejected” clinical diagnosis of IE requires a clear alternative diagnosis for the patient’s clinical manifestations suggestive of IE or resolution of those symptoms with antibiotics for 4 days or less. The absence of pathologic evidence of IE on autopsy or surgery after 4 days or less of antibiotics can also reject the diagnosis of IE.  

5.       When is valvular intervention considered in prosthetic valve endocarditis? 

  • Prosthetic valve endocarditis (PVE) commonly requires a combined medical-surgical approach.. Early surgery in PVE, per the 2015 AHA scientific statement, is recommended for patients with one or more of the following clinical circumstances: (1) signs or symptoms of heart failure as a result of valve dehiscence, severe prosthetic valve dysfunction, or intracardiac fistula; (2) IE complicated by complete heart block or an aortic/annular abscess; (3) PVE caused by a fungal organism or a highly resistant organism; (4) persistent bacteremia despite antibiotic therapy ~ 7 days.  
  • These recommendations are based on limited observational evidence. In the largest study to date early surgery for conditions other than valve dysfunction and perivalvular abscess was not associated with improved hospital or one-year survival. Other indications to consider potential surgery after weighing the risk and benefits are (1) aortic or mitral PVE with persistent vegetations >10 mm after one or more embolic episode despite appropriate antibiotic therapy; (2) aortic or mitral PVE with isolated very large vegetations (>30 mm); and (3) patients with relapsing PVE.  

References

Coming soon!


CardioNerds Case Reports: Recruitment Edition Series Production Team

78. Case Report: Severe Functional Mitral Regurgitation treated with MitraClip – University of Mississippi Medical Center

CardioNerds (Amit Goyal) join University University of Mississippi Medical Center cardiology fellows (Catherine Lowe, Chris Latour and Adi Sabharwal) as they sit at the reservoir enjoying a great view of the water at the Pelican Cove Grill in Jackson, MS. They discuss and educational case of decompensated heart failure and shock in the setting of severe functional mitral regurgitation treated with MitraClip. Dr. Kellan Ashley provides the E-CPR and program director Dr. Trey Clark provides a message for applicants. Episode notes were developed by Johns Hopkins internal medicine resident Richard Ferraro with mentorship from University of Maryland cardiology fellow Karan Desai.  

Jump to: Patient summaryCase mediaCase teachingReferences

CardioNerds (Amit Goyal) join University University of Mississippi Medical Center cardiology fellows (Catherine Lowe, Chris Latour and Adi Sabharwal) as they sit at the reservoir enjoying a great view of the water at the Pelican Cove Grill in Jackson, MS. They discuss and educational case of decompensated heart failure and shock in the setting of severe functional mitral regurgitation treated with MitraClip. Dr. Kellan Ashley provides the E-CPR and program director Dr. Trey Clark provides a message for applicants. Episode notes were developed by Johns Hopkins internal medicine resident Richard Ferraro 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.

CardioNerds Case Reports Page
CardioNerds Episode Page
CardioNerds Academy
Subscribe to our newsletter- The Heartbeat
Support our educational mission by becoming a Patron!
Cardiology Programs Twitter Group created by Dr. Nosheen Reza

Cardionerds Cardiology Podcast Presents CardioNerds Case Report Series

Patient Summary

76 year-old male with a history of non-ischemic heart failure and CRT-D placement, A-Fib, and chronic kidney disease presents with persistent shortness of breath. He had experienced a number of recent hospitalizations for heart failure exacerbations (7 in the last 9 months at a number of hospitals). Symptoms were primarily dyspnea on limited exertion, orthopnea, paroxysmal nocturnal dyspnea, and lower extremity edema. Patient was on guideline-directed medical therapy including salcubitril-valsartan, metoprolol, spironolactone, and apixaban for A-Fib. Physical exam was positive for S3, IV/VI holosystolic murmur at the apex with radiation to the axilla, bibasilar rales, and bilateral 3+ lower extremity edema. ECG with a-sensed/v-paced rhythm at 72 beats per minute and evidence of left atrial dilation.  Echo exhibited LV ejection fraction of 30-35% with global hypokinesis, RVSP 56mmHg, moderately thickened mitral leaflets with posterior leaflet restriction and 4+ eccentric posteriorally-directed mitral regurgitation, estimated regurgitant orifice 0.43cm2, regurgitant volume 57mL, mean gradient across the valve 3mmHg. Subsequently admitted to the hospital with decompensated heart failure, labs notable for Cr 2.43, proBNP 2417, lactate 2.6.  The patient acutely received diuresis, and given repeat hospitalizations with severe functional mitral regurgitation was considered fro MitraClip placement. This was performed one month following hospitalization without complication, and at two months following MitraClip placement the patient noted improvement in dyspnea, orthopnea, and PND, had not required repeat hospitalization.  


Case Media

A. Right atrial pressure
B. Right ventricular pressure
C. Pulmonary artery pressure
D. Wedge pressure
C. Pre and post MitraClip left atrial pressure


Episode Schematics & Teaching

Coming soon!


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

Coming soon!


References

Coming soon!


CardioNerds Case Reports: Recruitment Edition Series Production Team

77. Case Report: Carcinoid Heart Disease with Severe Tricuspid Regurgitation – Boston University Medical Center

CardioNerds (Amit Goyal & Daniel Ambinder) join Boston University cardiology fellows (Yuliya Mints, Anshul Srivastava, and Michel Ibrahim) for some hotdogs at Fenway Park in Boston, MA. They discuss an educational case of carcinoid heart disease with severe tricuspid regurgitation. Program director, Dr. Omar Siddiqi provides the E-CPR and APD Dr. Katy Bockstall provides a message for applicants. Episode notes were developed by Johns Hopkins internal medicine resident Bibin Varghese with mentorship from University of Maryland cardiology fellow Karan Desai.   

Jump to: Patient summaryCase mediaCase teachingReferences

CardioNerds (Amit Goyal & Daniel Ambinder) join Boston University cardiology fellows (Yuliya Mints, Anshul Srivastava, and Michel Ibrahim) for some hotdogs at Fenway Park in Boston, MA. They discuss an educational case of carcinoid heart disease.  Program director, Dr. Omar Siddiqi provides the E-CPR and APD Dr. Katy Bockstall provides a message for applicants. Episode notes were developed by Johns Hopkins internal medicine resident Bibin Varghese 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.

CardioNerds Case Reports Page
CardioNerds Episode Page
CardioNerds Academy
Subscribe to our newsletter- The Heartbeat
Support our educational mission by becoming a Patron!
Cardiology Programs Twitter Group created by Dr. Nosheen Reza

Cardionerds Cardiology Podcast Presents CardioNerds Case Report Series

Patient Summary

Coming soon!


Case Media

A. ECG
B. TTE: CW Doppler through tricuspid valve

Carcinoid – TTE 1

Carcinoid – TTE 2
Carcinoid – TTE 3
Carcinoid – TTE 4
Carcinoid – TTE 5
Carcinoid – TTE 6
Carcinoid – TTE 7
Carcinoid – TTE 8
Carcinoid – TTE 9


Episode Schematics & Teaching

Coming sooN!


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

Coming soon!


References

Coming soon!


CardioNerds Case Reports: Recruitment Edition Series Production Team

76. Case Report: Ehlers Danlos Syndrome with Postpartum Papillary Muscle Rupture – Cleveland Clinic

CardioNerds (Amit Goyal & Daniel Ambinder) join Cleveland Clinic cardiology fellows (Ben Alencherry, Erika Hutt, Zach Il’Giovine, Kara Denby) for some delicious craft beer at Platform Brewery! They discuss a challenging case of Ehlers Danlos Syndrome with Papillary Muscle Rupture. Dr. Vidyasagar Kalahasti provides the E-CPR and program director Dr. Venu Menon provides a message for applicants. Episode notes were developed by Johns Hopkins internal medicine resident, Eunice Dugan, with mentorship from University of Maryland cardiology fellow Karan Desai.  

This case has been published in JACC Case Reports: CardioNerds Corner!

Jump to: Patient summaryCase mediaCase teachingReferences

CardioNerds (Amit Goyal & Daniel Ambinder) join Cleveland Clinic cardiology fellows (Ben Alencherry, Erika Hutt, Zach Il’Giovine, Kara Denby) for some delicious craft beer at Platform Brewery! They discuss a challenging case of  Ehlers Danlos Syndrome with Papillary Muscle Rupture. Dr. Vidyasagar Kalahasti provides the E-CPR and program director Dr. Venu Menon provides a message for applicants. Episode notes were developed by Johns Hopkins internal medicine resident, Eunice Dugan, with mentorship from University of Maryland cardiology fellow Karan Desai.
Episode graphic by Dr. Carine Hamo

CardioNerds Case Reports Page
CardioNerds Episode Page
CardioNerds Academy
Subscribe to our newsletter- The Heartbeat
Support our educational mission by becoming a Patron!
Cardiology Programs Twitter Group created by Dr. Nosheen Reza


Patient Summary

A pregnant woman at 29 weeks gestation presents with postpartum pulmonary edema, found to have papillary muscle rupture, is ultimately diagnosed with vascular Ehlers Danlos Syndrome. For a detailed course, enjoy the JACC case report.


Case Media

Visit the JACC Case Reports: CardioNerds Corner to review the case media!


Episode Schematics & Teaching

Coming soon!


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

  1. What is Ehlers-Danlos Syndrome?  
  • Ehlers-Danlos Syndrome (EDS) is a clinically and genetically heterogenous group of heritable connective tissue disorders due to altered collagen metabolism. The inheritance pattern is variable, but is mostly autosomal dominant, with a range of mechanisms including deficiency of collagen-processing enzymes, mutant collagen chains, and haploinsufficiency.    
  • Although the syndrome has varying and overlapping clinical manifestations based on subtype (per the 2017 International ED Consortium there are 17 subtypes) it is largely characterized by hyperextensibility of the skin, hypermobility of joints, atrophic scarring, and tissue fragility.  The cardiovascular system is involved in the vascular and cardio-valvular subtypes. 
  • The incidence is estimated to be 1 in 2500 to 5000, however this is likely an underestimation since mild presentations may not be clinically diagnosed nor sent for genetic testing.   
  • The differential diagnosis for suspected EDS includes osteogenesis imperfecta, Marfan syndrome, and Loeys-Dietz syndrome. Those with joint symptoms may be incorrectly diagnosed with fibromyalgia, chronic fatigue syndrome etc.   
  1. What is vascular EDS?  
  • There are many subtypes of EDS. Type IV or vascular EDS (vEDS) is an autosomal dominant disorder that affects Type III procollagen protein synthesis. The incidence is rare – 1 in 50,000 to 250,000 people and is ~5% of all EDS cases.   
  • It is commonly caused by a defect in the COL3A1 gene, most of which are single base substitutions, but more than 700 different mutations have been identified. Missense mutations at the C-terminal end of the molecule results in a more severe form of the disease. 
  • Feared vascular manifestations include arterial dissection, rupture, and aneurysm formation. Death is most frequently secondary to complications from arterial dissection or hollow organ rupture. 70% of patients experience a first major event by age 20. Note, surgical repair of a ruptured aneurysm or dissection can be complicated by poor wound healing or hemorrhage because tissue in Ehlers-Danlos is friable. 
    • In this subtype, the usual manifestations of joint hypermobility and skin hyperextensibility may not be as apparent. 
    • The vascular type has the worst prognosis with median expectancy between 40-50 years of age.  
  1. How is vEDS diagnosed?  
  • Vascular EDS should be considered in anyone with unexplained arterial or hollow viscus rupture, commonly the sigmoid colon, especially at a young age. 
  • Diagnosis is confirmed by either finding of structurally abnormal type III procollagen in a culture of dermal fibroblasts or COL3A1 gene mutation. Clinical criteria can aid in the decision to pursue testing.   
  • Molecular testing is recommended when meeting one or more major clinical criteria or several minor criteria. Major criteria include family history of vEDS, unexplained arterial rupture at young age, spontaneous intestinal  perforation (in absence of risk factors), uterine rupture during pregnancy and labor, or carotid-cavernous sinus fistula formation.   
  • Some minor criteria include bruising without trauma (especially in unusual locations), spontaneous pneumothorax, tendon/muscle rupture, gingival recession, early onset varicose veins, and characteristic facial appearance amongst other criteria. Characteristic facial features include presence of prominent eyes due to lack of adipose tissue around the orbit, thin punched nose, small lips, hollow cheeks, and lobeless ears.  
  1. How should patients with vEDS be managed?  
  • Management of patients with vEDS requires a multidisciplinary team including a clinical geneticist. Baseline arterial imaging is needed but recommendations for follow-up imaging are not well defined. TTE should be performed at least every 3 years, to screen for cardiac complications.   
  • Contact sports should be avoided, as should anti-platelet and anti-coagulation therapy to minimize bleeding risks. Arterial and intramuscular punctures, arteriography, and routine colonoscopy should also be avoided. Surgical or endovascular management of complications can be challenging due to tissue friability.  
  • Ascorbic acid is a co-factor for collagen fibrils and may reduce bruising. Desmopressin, vasopressin, and recombinant factor 8a have also been shown to reduce bleeding complications.  
  • Patients with vEDS have decreased intima media thickness which imposes additional mechanical stress onto already fragile tissue. Celiprolol is a cardio-selective beta blocker and beta-2 partial agonist which has been showing to prevent arterial complications. However, this drug lacks FDA approval and is not available in the USA.  
  • Importantly, cascade genetic testing should be offered to all first-degree relatives.  
  1. How can pregnancy–related complications be avoided?  
  • Pregnancy in women with vEDS is considered high risk with maternal death rates over 10%. Pregnancy increases risks in two major ways: (1) increased risk of complications related to the gravid uterus and hypermobility (e.g., premature rupture of membranes, ligament laxity and rupture) or uterine/vascular rupture; (2) worsening of pre-existing pathology such as mitral valve prolapse of aortic dilation due to physiologic changes during pregnancy.   
  • Pre-pregnancy risk stratification and counseling is recommended for those with known vEDS. Some recommend termination of pregnancy in patients with known vEDS, but one study suggests that pregnancy does not influence life-expectancy. Current guidelines recommend a risk-benefit discussion with the patient and their family.   
  • In a patient with vEDS who becomes pregnant, care should involve a multidisciplinary team at a specialized center with vascular surgery, general surgery, and high-risk obstetrics. It is uncertain which mode of delivery improves the risk-benefit ratio for the patient and fetus. Furthermore, spinal or epidural anesthesia can have increased risk of complications in patients with vEDS. 

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 Cardiology Podcast Presents CardioNerds Case Report Series

References

Hutt, Erika, Celeste Santos-Martins, Jose Aguilera, Per Wierup, Vidyasagar Kalahasti, and Carmela Tan. “A 27-Year-Old Woman With Postpartum Papillary Muscle Rupture.” JACC: Case Reports, October 2020, S2666084920311748.  

M.J. Eagleton. Arterial complications of vascular Ehlers-Danlos syndrome. J Vasc Surg, 64 (2016), pp. 1869-1880 

Miklovic, Tyler, and Vanessa C. Sieg. “Ehlers Danlos Syndrome.” In StatPearls. Treasure Island (FL): StatPearls Publishing, 2020. 

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CardioNerds Case Reports: Recruitment Edition Series Production Team