UNUSUAL AND COMPLEX CARDIOVASCULAR DISEASES AND DIAGNOSES: Case examples explained
Clifford Thornton-Ramos
Medical Technology and Education Marketing Consultant & Freelance Journalist (Healthcare - Models & Policy, Biotech, Medical Devices, Innovation, Career Coaching, Training Instruction, Health & Fitness, and Wellness)
You show up to work at your hospital or clinic and you feel fairly confident that you are prepared for the day and what you may encounter…..or maybe not. Anyone who has spent some time in healthcare knows that unusual and complex clinical cases come up and then smacks us in the face. The difficult thing is, is that we rarely get a forewarning. Therefore, the situation becomes an exercise in digging into our “internal hard drive” and accessing the pertinent clinical information. In most cases, uncovering the perplexing disease and severity usually requires a comprehensive physical exam and a wide array of diagnostic imaging. And add to that, more often than not, an accurate diagnosis requires a team of specialty medical experts; this is also referred to as the multidisciplinary approach.
There are currently 8 billion people on planet Earth. Each of us is unique, even so called “identical twins”. This is a big part of what makes medicine one of the most challenging and professionally demanding fields. But it is also what attracts many to it.
In this piece, I look into the best practices for diagnosing and treating unusual and complex diseases as well as sharing the details of some case examples. I possess 10 years of clinical experience, therefore, I have encountered literally thousands of patient cases. Because of this, I have also encountered the “not often seen” medical conditions and diseases. ?There are some medical conditions where a healthcare practitioner may only see two or three times in their career. But it happens and as medical professionals we have an obligation to provide these patients the same level of care that every patient deserves and our best attempt at diagnosing and treating the condition.
If you are asking yourself why I decided to delve into this subject, some of the reasons include:
·???????? Demonstrates the complexity of medicine
·???????? Shows how important comprehensive medical training is
·???????? Highlights how important “being a good detective” is in medicine
·???????? Underscores what a tough journey the diagnosis process can be for the patient and their family
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BEST PRACTICES FOR DIAGNOSING UNUSUAL AND COMPLEX DISEASES
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“When diagnosing unusual medical conditions, physicians and nurse practitioners should utilize a comprehensive approach including: thorough patient history taking, detailed physical examination, considering differential diagnoses, utilizing advanced diagnostic tests like genetic sequencing and specialized imaging, consulting with specialists, staying updated on medical literature, and actively seeking out information on rare diseases to accurately identify and manage complex pathologies.”
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“Key strategies include:
Key considerations for unusual medical conditions:
Be aware of the limitations of common diagnostic tests and when to pursue more specialized options.?
Be open to considering rare or uncommon diagnoses, especially when the presentation is atypical.?
Utilize a structured approach to clinical reasoning to systematically evaluate the patient's presentation and generate a differential diagnosis.”
SOURCE:
Google Generative AI. Model: gemini-1.5-flash-001.
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Sree Ramya Gunukula at 3billion provides invaluable insights into best practices for medical staff to accurately diagnose rare diseases.
1.????? “In-depth Symptom Observation
·???????? Conduct comprehensive patient interviews
·???????? Record detailed family medical histories
·???????? Utilize stardardized symptom checklists
Rare disease diagnosis is made by selecting pathogenic mutations that are highly correlated with the patient’s symptoms.
2.????? Collaboration and Multidisciplinary Approach
3.????? Selecting the Right Genetic Testing Agencies”
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“Moreover, partnering with organizations that continuously update and reanalyze data ensures that the latest information is always used in the diagnostic process, improving outcomes for patients with rare diseases.”
Note: 3billion updates its databases nightly.
SOURCE:
Best Practices for Medical Staff to Accurately Diagnose Rare Diseases. Ramya Gunukula, Sree. 7/2/2024. 3billion, Inc.. Link: https://3billion.io/blog/best-practices-for-medical-staff-to-accurately-diagnose-rare-genetic-diseases
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The National Academies of Sciences, Engineering, and Medicine highlights the challenges of the diagnostic process.
“Adding to the complexity of the time-dependent nature of the diagnostic process are the numerous settings of care in which diagnosis occurs and the potential involvement of multiple settings of care within a single diagnostic process. Henriksen and Brady noted that this process—for patients, their families, and clinicians alike—can often feel like “a disjointed journey across confusing terrain, aided or impeded by different agents, with no destination in sight and few landmarks along the way” (Henriksen and Brady, 2013, p. ii2).”
SOURCE:
Committee on Diagnostic Error in Health Care; Board on Health Care Services; Institute of Medicine; The National Academies of Sciences, Engineering, and Medicine; Balogh EP, Miller BT, Ball JR, editors. Improving Diagnosis in Health Care. Washington (DC): National Academies Press (US); 2015 Dec 29. 2, The Diagnostic Process. Available from: https://www.ncbi.nlm.nih.gov/books/NBK338593/
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CASE 1: TRANSPOSITION OF THE GREAT ARTERIES
?Explanation of disease state and condition of patient:
“Transposition of the great arteries (or vessels) is a rare issue where the main arteries that move blood out of your heart are in the wrong places. They also connect to your heart in the wrong places. It’s a congenital (present at birth) condition.
The two reversed (transposed) arteries are:
The main pulmonary artery, which carries blood into your lungs.
The aorta, the artery that carries blood from your heart to the rest of your body.”
?SOURCE:
Transposition of the Great Arteries. Cleveland Clinic. Last reviewed on 08/13/2024. Link: https://my.clevelandclinic.org/health/diseases/23387-transposition-of-the-great-arteries
Description of and reason for patient interaction, observations, key information from chart:
I received an order from the cardiologist to perform a transthoracic echocardiogram (TTE) on this female patient in the hospital setting. She was in her early 30s, petite in size, of Hispanic descent [i.e. I believe she is from Ecuador], fairly healthy in exterior appearance, conversant, and had survived natural childbirth. The indication for the echo was shortness of breath (SOB).
Now the thing about transposition of the great arteries is that the patient’s right ventricle (RV) becomes the patient’s functional left ventricle (LV) [leading to the ascending aorta] and the LV becomes the patient’s RV [leading to the pulmonary artery]. The problem with this is that the RV is thinner walled than the LV and is not optimized for the higher blood pressures experienced in this capacity. Because of this, her RV was beginning to fail.
Description of consult or test performed and perceived success of consult or test:
A surface or transthoracic echocardiogram is an economical and relatively quick way to assess the overall function of a patient’s heart, assess for any valvular abnormalities, and any other functional heart issues. Therefore, the prescribing of an echo for this patient is certainly warranted. In echo, we have what we call our standard views. These views are standard because we expect to see certain chambers, valves, and arteries of the heart within certain views. We record these views and the heart function in digital video loops in a certain sequence or protocol [i.e. these images and digital video loops are then downloaded to a cardiovascular PACS]. Both the echo tech and the reading cardiologist are well-versed in this protocol.
With that, when I went to obtain this patient’s first view, the parasternal long axis (PLAX), I could not see this patient’s ascending aorta and aortic valve, even with playing with the angulation [i.e. when I should have]. Honestly, I was stumped! So, then I attempted some of the others view such as the apical 5-chamber view (A5C), where one should be able to view the LV, left ventricular outflow tract (LVOT), aortic valve, left atrium (LA), RV, and right atrium (RA). When I went to the A5C, it got more confusing because everything was flipped. I thought, ok, time to call in the reinforcements. I asked the echo lab manager to take a look. She happened to be experienced with pediatric echo, which as you can imagine involves mostly congenital heart conditions. After she acquired a few key views, she then said the most likely diagnosis is transposition of great arteries. This was confirmed by the reading cardiologist.
Key clinical challenges with the condition and how it was handled:
The key challenge for me was that I had not encountered this condition before. I felt kind of like I was “flying blind”. I lost my compass; I could not make heads or tails of things. When you’re an echo tech, those standard views are our compass. The only time we can deviate from these views is if we cannot really get any decipherable views from the standard views; our last resort is often performing a full study from the subcostal view [i.e. inferior to the rib cage]. The problem with that is that one cannot achieve a good doppler angle [i.e. to perform our doppler study]. Some examples of when this is necessary is for lung disease, breast implants, and/or other impediments to the ultrasound waves penetrating or returning. We have a name for this, it’s called a “technically difficult study” (TDS).
Key deciding factors [i.e. or clinical decision tree] for the care plan prescribed and/or test interpretation:
The patient’s diagnosis indicated on the echo final report was based on the images and videos recorded on the echo and the cardiologist’s interpretation.
Patient outcome:
The patient was referred for cardiothoracic surgery and heart transplant. Unfortunately, I did not have access to information about the outcome of the patient’s surgery as she was transferred to another hospital for the surgery.
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CASE 2: SEVERE ECCENTRIC MITRAL REGURGITATION
Explanation of disease state and condition of patient:
“Mitral valve regurgitation is the backward flow of blood through your heart’s mitral valve. This “door” connects the two chambers on the left side of your heart. It opens and closes when your heart beats. When your mitral valve opens, it lets blood flow from your top left chamber (atrium) down to your bottom left chamber (ventricle). When it closes, blood flow between those chambers pauses. The sealed door prevents blood from flowing back up into the top chamber so that it can go out of your heart to supply blood to your body.”
SOURCE:
Mitral Valve Regurgitation. Cleveland Clinic. Last reviewed on 07/22/2024. Link: https://my.clevelandclinic.org/health/diseases/24983-mitral-valve-regurgitation
The patient was a female in her mid-40s to early-50s [i.e. I am telling these cases from my memory], of normal weight and build. She was in the intensive care unit (ICU), and I was ordered by the cardiologist to perform a bedside TTE on her. Naturally, as an ICU patient she was on telemetry. If I can recall correctly, she was in atrial fibrillation (A-FIB). She seemed more psychologically distressed than physically distressed, which one can understand. She was well groomed and was the owner of a boutique children’s clothing store.
Now, an experienced echo tech and cardiologist can gauge the severity [i.e. mild, moderate, severe] of valvular regurgitation fairly quickly using color-doppler. We look at how far back into the LA the regurgitant jet is reaching; there can be multiple regurgitant jets. Also, we look at how much regurgitant blood volume is filling the LA. If the regurgitant jet reaches the very back of the LA and appears to be filling a good portion of the LA, then we would likely grade that as severe mitral regurgitation (MR). MR usually occurs in systole when the mitral valve is closed, but there is something such as diastolic MR [i.e. in severe cases]. We also quantify the volume of regurgitation using the Proximal Isovelocity Surface Area (PISA), but this is not performed routinely.
But there is more to it. The mitral regurgitant jet can be eccentric, meaning it is thin and not going in the usual angle. This is why echo techs must rock their transducer [i.e. echocardiography generally requires more transducer rotation and manipulation than general or vascular ultrasound, for which the ultrasound wave is steered more by the ultrasound machine] to ensure they are picking up the regurgitant jet, especially if they see something such as an enlarged LA that would indicate probable significant MR. And an enlarged LA is one of the usual findings with moderate-to-severe MR. An enlarged LA can lead to A-Fib, which was the case here. And furthermore, this condition left unchecked can lead to the patient meeting the criterion for dilated cardiomyopathy (DCMP). DCMP can then lead to heart failure (HF) and HF can lead to serious physical disability and death [i.e. there are not enough available hearts for transplant for all of the millions of HF patients; many patients don’t qualify for transplant due to preexisting conditions, left ventricular assist devices (LVADs) are extremely expensive and lifestyle altering]. ?As you can see, significant MR can be a serious finding and condition.
This patient had eccentric severe MR. On the echo in apical 4-chamber (A4C), I could see, using color-doppler, the eccentric regurgitant jet riding the LA wall and swirling all the way to the back of her enlarged LA and to the other side of the LA. It was the most eccentric and unusual MR jet that I can remember ever seeing, on TTE or transesophageal echocardiogram (TEE).
She needed mitral valve repair or replacement [i.e. bioprosthetic or fully prosthetic valve, which have different lifecycle and lifestyle implications].
Description of and reason for patient interaction, observations, key information from chart:
The patient was suffering from SOB, in A-FIB, and was very fatigued.
Description of consult or test performed and perceived success of consult or test:
The cardiologist ordered a bedside TTE to assess her heart for functional problems and the cause of the above-mentioned symptoms and arrhythmia.
Key clinical challenges with the condition and how it was handled:
The key challenge with this echo was detecting that MR jet in order that I could clearly record it for the reading cardiologist to see, to facilitate accurate interpretation. In this case, this was extremely important. Fortunately, at this time, I was an experienced echo tech and the patient’s enlarged LA told me that there had to be significant MR. Given this, I kept rocking the echo transducer until I found the regurgitant jet. Also, the intense color-doppler colors [i.e. which correlates with velocity] that I could see around the perimeter of the patient’s LA was another giveaway.
Key deciding factors [i.e. or clinical decision tree] for the care plan prescribed and/or test interpretation:
Given the patient’s symptoms and finding of A-Fib on 12-lead electrocardiogram and telemetry, a TTE was definitely appropriate. The echo showed a severely dilated LA and severe eccentric MR. But fortunately, her LV and RV function was normal or preserved.
Patient outcome:
Unfortunately, I did not have access to information on the patient’s outcome. The patient was likely transferred to another hospital for cardiothoracic surgery involving mitral valve repair or replacement [i.e. this depends on a number of factors and sometimes even when a repair is attempted, it might not prove to be effective and hence a mitral valve replacement will be required; usually a TEE is performed on the patient while still under anesthesia and on the heart-lung machine immediately following the repair to assess its effectiveness].
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CASE 3: COMPLETE HEART BLOCK
Explanation of disease state and condition of patient:
“Heart block is an issue with a heartbeat signal traveling from the top chambers of your heart to the bottom chambers of your heart. Normally, electrical signals (impulses) travel from your heart’s upper chambers (atria) to your lower chambers (ventricles). The signal moves through your AV node, a cluster of cells that link the electrical activity from your top to bottom chambers. If you have heart block, the signal only makes it to your ventricles some of the time, if at all.
The result is a heart that may not work well. Your heart may beat slowly or skip beats. In severe cases, heart block can affect your heart’s ability to pump blood, causing low blood flow to your entire body.
Third-degree heart block: This is a complete blockage of the electrical signal from your atria to your ventricles. Third-degree block negatively affects your heart’s ability to pump blood out to your body. This form of heart block is serious and usually requires a pacemaker for treatment.”
SOURCE:
Heart Block. Cleveland Clinic. Last reviewed on 04/14/2024. Link:
The patient was female and in her mid-20s; she was an inpatient in the hospital. She was born with electrophysiological complete heart block [i.e. also known as 3rd degree heart block]. Because of this, she had an implanted cardiac defibrillator (ICD) [i.e. also known as a pacemaker]. She had moved with her domestic partner, but forgot about the need to change the ICD’s battery and it was dead. Therefore, her ICD ceased to function. This was a very serious situation given that she suffers from complete heart block.?
Description of and reason for patient interaction, observations, key information from chart:
The patient appeared relatively healthy and of normal weight, perhaps on the thin side. She was completely conversant, and alert and her skin tone seemed normal. She did not to appear to be in any immediate distress. An inpatient, she was transported to the echo lab for her TTE. She explained her situation and what had transpired. Additionally, I read the pertinent notes in her chart. I always cared for all patients, really cared about them. But I had an elevated level of concern for younger patients, say 50 years of age and younger. Because they have so much life left and usually major responsibilities, family to take care of, and careers to continue. Because of this, this case was particularly memorable.
Description of consult or test performed and perceived success of consult or test:
The cardiologist ordered this patient’s TTE, and the indication was complete heart block. From what I remember, her echo was fairly normal with no significant findings.
Key clinical challenges with the condition and how it was handled:
Fortunately, I can’t recall any major technical or other challenges in performing her echo. She followed all instructions very well and was completely compliant [i.e. for the echo, we ask the patient to go into certain positions and/or hold their breath for a few seconds if they can]. The patient was friendly and cooperative. My thought was, there should be better mechanisms to remind the patient to change the ICD battery and get any other required maintenance performed [i.e. an ICD technician using a doughnut shaped device connected to a laptop can access the ICD system and change various settings, such as the preferred pacing heart rate (HR); the technician can also view the patient’s heart rhythm on their connected laptop – this is usually done prior to a patient with an ICD about to get a cardioversion]. This all occurred around 2006, therefore hopefully with a higher adoption of email, higher availability of apps, etc., there are more ways to remind ICD patients of mandatory tasks and maintenance. With this case, I could not help but ask myself, “How can this happen!?!”
Key deciding factors [i.e. or clinical decision tree] for the care plan prescribed and/or test interpretation:
Given the patient’s history of complete heart block and the situation at-hand, a TTE was without a doubt warranted.
Patient outcome:
Unfortunately, I had no reason to follow the patient and look into their outcome, therefore I was not privy to this information. But she seemed to be getting the care she needed.
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BIBLIOGRAPHY:
Google Generative AI. Model: gemini-1.5-flash-001.
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Best Practices for Medical Staff to Accurately Diagnose Rare Diseases. Ramya Gunukula, Sree. 7/2/2024. 3billion, Inc.. Link: https://3billion.io/blog/best-practices-for-medical-staff-to-accurately-diagnose-rare-genetic-diseases
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Committee on Diagnostic Error in Health Care; Board on Health Care Services; Institute of Medicine; The National Academies of Sciences, Engineering, and Medicine; Balogh EP, Miller BT, Ball JR, editors. Improving Diagnosis in Health Care. Washington (DC): National Academies Press (US); 2015 Dec 29. 2, The Diagnostic Process. Available from: https://www.ncbi.nlm.nih.gov/books/NBK338593/
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Transposition of the Great Arteries. Cleveland Clinic. Last reviewed on 08/13/2024. Link: https://my.clevelandclinic.org/health/diseases/23387-transposition-of-the-great-arteries
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Mitral Valve Regurgitation. Cleveland Clinic. Last reviewed on 07/22/2024. Link: https://my.clevelandclinic.org/health/diseases/24983-mitral-valve-regurgitation
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Heart Block. Cleveland Clinic. Last reviewed on 04/14/2024. Link:
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