Fabry's CM is an X-linked inherited deficiency of alpha-galactosidase A which results in systemic sphingolipid accumulation.
Severity of manifestation depends on degree of X-chromosome inactivation => female carriers can have a wide range of phenotypes! doi.org/10.1016/j.jcmg…

https://twitter.com/AJamilTajik/status/1618730060026093570

This 67 yo pt presented with severe HCM phenocopy and strong family history of confirmed Anderson-Fabry's CM. She was determined to have a GLA mutation and successfully started on treatment with Fabrazyme.

Quiz for fellows and sonographers #MondayMotivation
70 year old male presenting with a systolic murmur. What is this Mitral M-mode redux of? #echofirst @AAH_StLukesCV
#cardiotwitter #ACCFIT @MayoClinicCV @ASE360 @ACCinTouch @mahali87 @MichaelB_MD @DanielJohnsrud @ESC_Journals @AtzenhoeferM @HaroonZubairMD

1/5 An interesting illustrative case of the day. 62-year-old man with mid ventricular HCM associated with a large apical aneurysm #EchoFirst @AAH_StLukesCV 2/5 CW Doppler trace shows triphasic flow:
1. MR
2. Mid ventricular obstruction
3. Outflow from the apex towards mid LV cavity during IVRT.

1/7 This 56 yo was the first patient I saw in clinic this morning. EKG reminded of my friend professor Sakamoto, who first described giant negative T waves in 1976 of apical HCM. #echofirst 2/7 Apical LAX view demonstrating marked apical hypertrophy.

1/8 Martha, I completely agree with you that the symposium has exciting topics and expert presenters. However, are we preaching to the choir?

https://twitter.com/drmarthagulati/status/1312377911626936320

2/8 I am beckoned by the famous lyrics written by Pete Seegar in 1955 “When will we ever learn?” and subsequently popularized by Peter, Paul and Mary when it became a favorite anti-war song in the 60s. We, cardiologists, are indeed at war against CVD, of which is 80% preventable