Cardiologic Manifestation in Amyloidosis

Rare and Ultra-Rare Diseases as Causes of Cardiomyopathy

“…Ventricular systolic dysfunction occurs at later stages and its manifestations include edema, jugular venous distention, hepatomegaly and ascites, and also symptoms of low cardiac output. [10][11][12] CMP may show variable severity, with left and right ventricular hypertrophy (thickness greater than 12mm), biatrial dilatation, pleural effusion and echocardiographic global longitudinal strain with an apical sparing (cherry on top) pattern (Figure 2). These findings diverge from the electrocardiographic parameters found in up to 80% of the cases, i.e., low-voltage QRS complex in peripheral leads and absence of R wave progression in the precordial leads, suggesting electrically inactive area (pseudoinfarcts) (Figure 2).…”

“…Late gadolinium enhancement cardiovascular magnetic resonance (CMR) reveals increased diffuse subendocardial enhancement by T1 mapping. [9][10][11] Anderson Fabry disease (Figure 3) is a multisystem and LSD, linked to the X-chromosome. Deficiency of the α-galactosidase A enzyme (α-Gal A) results in the accumulation of globotriaosylceramide and globotriaosylsphingosine (lyso-GL-3) in the fetus.…”