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A 22-year-old volleyball player comes to your clinic after a syncopal episode during a game. She is in good health and has no other medical problems. Her family is healthy, although she has an uncle that died for unknown reasons at the age of 32. On examination, there is a 2/6 systolic ejection murmur at the left sternal border that becomes louder during a Valsalva maneuver. Which of the following is the most appropriate next step in management?

Question

A 22-year-old volleyball player comes to your clinic after a syncopal episode during a game. She is in good health and has no other medical problems. Her family is healthy, although she has an uncle that died for unknown reasons at the age of 32. On examination, there is a 2/6 systolic ejection murmur at the left sternal border that becomes louder during a Valsalva maneuver. Which of the following is the most appropriate next step in management?

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Solution

The clinical scenario described suggests that the patient may have hypertrophic cardiomyopathy (HCM). HCM is often characterized by a systolic ejection murmur that becomes louder with Valsalva maneuver. It is also a common cause of sudden cardiac death in young athletes, which may explain the death of her uncle at a young age.

The most appropriate next step in management would be to perform an echocardiogram. This test uses sound waves to produce live images of the heart, allowing the doctor to see if the heart muscle is abnormally thick — a common sign of HCM.

If the echocardiogram confirms the diagnosis of HCM, the patient would likely be advised to avoid strenuous exercise, which can increase the risk of sudden cardiac death in people with HCM. She may also be started on medications like beta blockers or calcium channel blockers, and in some cases, may require procedures like septal myectomy or septal ablation.

It's also worth noting that because HCM is often inherited, it may be appropriate to recommend genetic testing and counseling for the patient and her family members.

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