A 40 years old female was brought to the emergency with a history of sudden vision loss. Her previous history is significant for poly-arthralgias, Raynaud’s phenomena and syncopal episodes.

On Examination she has stable vital signs with no postural drop in blood pressure. Fundus examination reveals retinal whitening. The cardiovascular examination is significant for a grade II/IV diastolic murmur at the apex.

Two sets of blood cultures are negative and autoimmune profile shows a weakly positive anti-nuclear antibody and negative anti-ds DNA.

  1. What is the differential diagnosis in this case?

  2. What is the most likely diagnosis?

  3. What is the cause of sudden vision loss in the above case?

  4. Why this patient has syncopal episodes?


question key
key for the above questions

Answers/ original key is given below. New viewers should try to solve the questions and then see the key. a brief discussion about the main topic follows at the end.

What is the differential diagnosis in this case?

Answer:

atrial myxoma

infective endocarditis

systemic lupus erythematosus

What is the most likely diagnosis?

Answer:

Atrial myxoma

What is the cause of sudden vision loss in the above case?

Answer:

Retinal artery occlusion

Why this patient has syncopal episodes?

Answer:

ventricular inflow obstruction/ mitral pseudo-stenosis

question discussion
discussion

A brief discussion about “atrial myxoma”

Atrial myxoma is the most common primary cardiac neoplasms accounting for 50% of the cardiac tumors. 80% of the myxomas are found in the left side of the heart.

Although myxomas are benign neoplasms, local recurrence is common. These tumors are pedunculated and gelatinous in consistency. They are smooth surfaced and very friable.

Because of their friable nature, these tumors commonly embolize to distant parts of the body. Henceforth, most patients present with embolic phenomena. These tumors secrete a variety of cytokines and most importantly interleukin 6 and thus have constitutional symptoms as one of the dominant features.


Constitutional features include fever, weight loss, arthralgias, and Raynaud’s phenomena.

Although these constitutional symptoms have been thought to be due to the production of interleukin 6 but recent studies are in favor of the paraneoplastic hypothesis.

Apart from these Constitutional symptoms, atrial myxomas can also have cardiovascular features. These cardiovascular features depend on the site of the myxoma.

80% of myxomas are found in the left Atrium so most patients present with signs related to the mitral valve.

Patients can have an early diastolic sound classically called the tumor flop. patients can also have evidence of other associated murmurs like mitral regurgitation.

Atrial myxomas, when large enough can cause obstruction of the mitral valve leading to recurrent syncopal attacks.

Most patients present with distant metastasis. They may have strokes, transient ischemic attacks or sudden vision loss secondary to retinal artery occlusion (manifested by pale discs).

Uncontrolled Hypertension

Hypertension in a male with female genitalia

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Haseeb Ashraf
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Haseeb Ashraf

What is the differential diagnosis in this case? 1. MS with Paroxysmal A. Fib 2. Vasculitis 3. Retinal artery occlusion 4. Thromboembolic phenomenon 5. Endocarditis 6. Stroke What is the most likely diagnosis? Based on the clinical findings of diastolic murmur at the apex and episodes of syncope, Mitral Stenosis with Paroxysmal Atrial Fibrillation is the most likely diagnosis. What is the cause of visual loss in the above case? Although the pattern of visual loss is not given in this scenario, however, based on the most likely diagnosis, this could be an embolus retinal artery occlusion or even stroke.… Read more »

Haseeb Ashraf
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Haseeb Ashraf

This could also be libman sack’s endocarditis

Muhammad Awais Tahir
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Muhammad Awais Tahir

Ischemic optic Neuritis??

Yahya khan
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Yahya khan

Sir we are in need of key for these questions

Yahya khan
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Yahya khan

Sir very difficult scenario and that is Atrial myxoma