Thread by @AJamilTajik

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…

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.

Note the diffuse asymmetric LVH (wall thickness 24mm) with marked apical hypertrophy (30mm). Despite normal LVEF, her GLS was markedly reduced at -5.8%. CMR demonstrated 20% LGE and short T1 time (indicative of fat accumulation)

Due to significant NSVT burden, she was referred to electrophysiology for ICD implantation for primary prevention. #EPeeps @aah_ep

Note the binary endocardial line on the apical long axis view, an important clue for Fabry's CM.

#CardioTwitter @JaeKOh2 @dr_benoy_n_shah @pattypellikka @jeffreygeske @BijoyKhandheria @WilliamZoghbi @VLSorrellImages @echo_stepbystep @MasriAhmadMD @purviparwani @iamritu

In response to several comments pertaining to Fabry’s CM:
1) Despite a normal LVEF, this patient’s myocardial mechanics both globally (GLS) and regionally are markedly abnormal. Commonly strain is severely reduced in the posterolateral wall, as illustrated in the bullseye figure.

Binary appearance of the myocardium in Fabry’s is analogous to the apical sparing GLS pattern seen in amyloid heart disease. The findings raise the possibility of these diagnoses but are non specific as several other HCM look-a-likes can present with similar findings.

Finally, markedly hypertrophic papillary muscles is frequent in Fabry’s disease but is also a non-specific finding for other HCM phenocopies, such as Friedreich’s ataxia. Here seen in the anterolateral pap muscle in the short axis view.