Recap and Resources on Case conference 7/15/2024

Alex shared a really cool and rich case with us this week! Due to tech issues/time limitation, we mostly exercised our clinical reasoning around the patient’s presentation (cardiac arrest/new HFrEF), and then learned about hypogonadism as a key clue. Having a robust approach to both would help us avoid diagnostic delays as experienced by this patient.

Diagnostic journey recap: 

— We have a 28-year-old lady presenting with VFib/VTach arrest, along with a 4-month history of heart failure symptoms (in fact, dyspnea on exertion for 4 months, and leg swelling for 2 years). In contrast to PEA arrest where you consider the 5H5T’s (causing electrical-mechanical dissociation or obstruction), VFib/VTach pushes us to focus on heart failure/cardiomyopathy. Exam and labs all supported cardiogenic shock.

— Additional workup included an EKG showing complete heart block, and TTE showing severe biventricular failure, with some thickening of the ventricular wall, and presence of an LV thrombus (often a result of severely reduced EF; the thrombus also resulted in an MCA stroke in this patient). We reviewed the Ddx for HFrEF and considered this patient’s characteristics (young, background chronic course, no toxin exposure, etc) and TTE features (presumably no focal wall motion abnormalities, thickened wall without LVH). We also briefly reviewed the causes of complete heart block. We concluded that ischemia must be ruled out (and patient did have normal LHC), but infiltrative cardiomyopathies are in our minds.

— In reality, patient completed cardiac workup including an endomyocardial biopsy and got the Dx. However, we did not reveal the Dx here, as we must reflect how we could have connected the dots and recognized the Dx earlier. Alex challenged us by asking how the history of secondary amenorrhea/hypogonadotropic hypogonadism could have given a clue. First Alex helped us review their definitions and patient’s endocrine features, including low FSH and E2.

— Alex then taught us the Ddx for hypogonadotropic hypogonadism, which includes pituitary mass, infiltrative diseases, vascular disease, functional deficiency, and congenital GnRH deficiency such as Kallman syndrome, etc. (Alternatively, I reflected that we could build a framework around hypopituitarism Ddx if we wish to have something that we can apply more broadly.)

— By “connecting cardiac arrest and hypogonadotropic hypogonadism in a young woman” (Alex’s original title for this case), we could paint a picture of infiltrative disease that involves multiple organs, further clued by her chronic transaminase elevation, and pre-diabetes, and a diagnosis of hemochromatosis became the answer, which was confirmed with hyperferritinemia and genetic tests.

Teaching point recap: please review the following schemas/topics

— Review HFrEF Ddx framework (and build the illness scripts of each disease throughout your training)

— Review EKG features of complete heart block, and its Ddx if you have time (UpToDate is often a good resource)

— Review the concept of secondary amenorrhea, and Ddx for hypogonadotropic hypogonadism (or more broadly, Ddx for hypopituitarism) –  see Alex’s slides here

— For advanced learners, take an overview of infiltrative diseases, including clues to help you recognize them (I also made a summary here)

— Start to build an illness script for hemochromatosis (an example from CPSolvers)

Please let me know if you have any questions or suggestions!