Name:
A 25-Year-Old with Heart Failure
Description:
A 25-Year-Old with Heart Failure
Thumbnail URL:
https://cadmoremediastorage.blob.core.windows.net/eb324c1d-aac1-4013-9be7-e80d81906a0c/thumbnails/eb324c1d-aac1-4013-9be7-e80d81906a0c.jpg?sv=2019-02-02&sr=c&sig=CEDiOCzl%2FCIP8IdE6U3wMlaFm3M8MZ0uJSEah%2Fxv2Ms%3D&st=2024-05-06T01%3A20%3A26Z&se=2024-05-06T05%3A25%3A26Z&sp=r
Duration:
T00H06M45S
Embed URL:
https://stream.cadmore.media/player/eb324c1d-aac1-4013-9be7-e80d81906a0c
Content URL:
https://cadmoreoriginalmedia.blob.core.windows.net/eb324c1d-aac1-4013-9be7-e80d81906a0c/17797521.mp3?sv=2019-02-02&sr=c&sig=lYmOQPSbOWB5D5%2FYxObGdGiSSXXman0%2B3kS3TkoIPTM%3D&st=2024-05-06T01%3A20%3A26Z&se=2024-05-06T03%3A25%3A26Z&sp=r
Upload Date:
2022-02-28T00:00:00.0000000
Transcript:
Language: EN.
Segment:0 .
♪ (music) ♪
CATHY: Hi, welcome to Harrison's Podclass, where we discuss important concepts in internal medicine. I'm Cathy Handy.
CHARLIE: And I'm Charlie Wiener,
CHARLIE: and we're coming to you from the Johns Hopkins School of Medicine. ♪ (music) ♪
CATHY: Welcome to Episode 48: A 25-Year-Old with Heart Failure.
CHARLIE: Here's the question: You're evaluating a new patient in clinic. This 25-year-old was diagnosed with heart failure in another state and has since relocated. He has New York Heart Association Class II symptoms and denies any angina.
CATHY: So, just to review, the New York Heart Association heart failure symptoms scales are all on the same page. So, Class I is when patients have no symptoms, no limitation in any ordinary activity. Class II, I think about mild symptoms, maybe some limitation during ordinary activity, but only slight. Class III, there'd be marked limitation inactivity that's due to symptoms, and really patients are only comfortable when they're resting. And then Class IV is when there are severe limitations and you get symptoms even at rest.
CHARLIE: Yeah, he confirms that, in general, he's been relatively stable clinically for the past few months. He's coming now to see you for evaluation and management, and, unfortunately, he doesn't bring any records with him. But you immediately notice that he's wheelchair-bound with severe scoliosis.
CATHY: Okay, I wasn't expecting that piece of information.
CHARLIE: So, additional history reveals that he has no family history of hyperlipidemia or atherosclerosis. His physical examination is notable for a blood pressure of 105/75, a heart rate of 84, he's afebrile, his respiratory rate is 18 with room air saturation of 91%. He does have an elevated JVP while sitting in his wheelchair. There are also bilateral lung crackles and an S3, but no cyanosis. Neurologic examination shows severe muscle weakness in all extremities. An ECG is obtained in clinic and shows tall R waves in V1 and V2 with deep Qs in V5 and V6.
CHARLIE: Furthermore, you receive an echocardiogram report in clinic that shows that he has severe global left ventricular dysfunction with a reduced ejection fraction. Okay, Cathy, based on this somewhat limited information, the question is going to ask you: "What is the most likely diagnosis?" Option A is amyotrophic lateral sclerosis, or ALS; option B is an atrial septal defect; option C is chronic thromboembolic disease; option D is Duchenne muscular dystrophy; and option E is ischemic cardiomyopathy.
CATHY: Well, actually, we definitely have enough information from the history and physical alone and with the EKG to figure out what the diagnosis is. So, we hear about a very young male with a systemic muscular disease, as well as the EKG pattern that you mentioned-- and that makes Duchenne muscular dystrophy, your option D, the right answer.
CHARLIE: Yeah, that's a good call. He tells you that he was diagnosed with Duchenne muscular dystrophy at age three, and he became 100% wheelchair-dependent at age 17. Tell me more about muscular dystrophy.
CATHY: It's one of the X-linked recessive muscular dystrophies caused by mutations in the dystrophin gene. So, therefore, it's really a disease of males. Early on, you get hypertrophy of the distal muscles, like the calves, and those are really early signs. On echo, you see global left ventricular dysfunction, and the ECG pattern of Duchenne muscular dystrophy is unique and consists of tall R waves in the right precordial leads with an R/S ratio that's over 1, and often also with deep Q waves in the limb and precordial leads, which we hear about in this case.
CHARLIE: Okay, anything else you worry about in these patients from a cardiac perspective?
CATHY: These patients often have a variety of supraventricular and ventricular arrhythmias, and they're at risk of sudden death due to the intrinsic cardiomyopathy as well as the low ejection fraction. So, implantable cardioverter-defibrillator should be considered in the appropriate patients. Charlie, you're in a Multi-D Clinic that takes care of patients like this. What are the pulmonary findings that you guys worry about there?
CHARLIE: Yeah, it's important to note that, in this disease, the inspiratory and the expiratory respiratory muscles are typically involved, and they usually progress at a pace typically consistent with the other skeletal muscle dysfunction. These patients usually do not have pharyngeal problems, so that they can swallow, and that's in contrast to patients with ALS. However, most of these patients will require initiation of nocturnal non-invasive ventilation in their teens, and that may progress to the need for 24-hour either non-invasive or invasive mechanical ventilation over time.
CHARLIE: I'm also aggressive with the administration of cough-assist machines because their abdominal muscles are also weak, and therefore they can't generate a deep cough. Finally, as a reminder, the most sensitive and specific finding for diaphragmatic weakness in all neuromuscular patients is the presence of paradoxical respiration while supine; that is, if you see the patient's stomach going inwards on inspiration, that suggests severe diaphragmatic weakness.
CATHY: And important to note that multidisciplinary care is essential for these patients because there are multiple systems involved and oftentimes a lot of social services and other healthcare services that are needed.
CHARLIE: Absolutely true. Cathy, what about the cardiac findings and the other options that were listed in this question?
CATHY: So, as you mentioned, some of the differences with ALS-- ALS usually doesn't involve the heart, it's a disease of motor neurons and also usually presents in older patients. So, wouldn't expect that here in this 25-year-old. An atrial septal defect may be asymptomatic and only heard on exam, but if it's severe, it can present with cyanosis because of the right-to-left intracardiac shunting or Eisenmenger's physiology. This patient wasn't cyanotic, so that goes down lower on my list.
CATHY: Chronic thromboembolic disease causes pulmonary hypertension, and you would get right-sided heart failure, not the left-sided heart failure that we hear about in this case. And finally, for ischemic cardiomyopathy, you'd see focal wall-motion abnormalities on echo, and angina would be a more prominent symptom. I would also expect a family history of ischemic heart disease in someone who is presenting with this at this young age. So, that's also why I'm ruling this out.
CHARLIE: Okay, so the teaching point of this case is that muscular dystrophies, particularly Duchenne muscular dystrophy, commonly involve the heart and may present with heart failure, global left ventricular dysfunction, and ECG abnormalities. A cardiologist with experience in these genetic disorders should be involved in their multidisciplinary care. There are some new disease-modifying medications that are coming out, but, in general, these patients are managed symptomatically.
CATHY: And to learn more about this, you can go to Harrison's chapter on Disorders of the Cardiovascular System and also the chapter on muscular dystrophies. ♪ (music) ♪