Case of the week 08-17

1
Case of the week 08-17 Isolated Left
Ventricular Apical Hypoplasia
Clinical History  35yr ?. Known previous DCM
diagnosed via echocardiography. Currently stable,
NYHA Class I, and well controlled. No significant
arrhythmias noted. Referred for CMR. CMR The
LV is spherical in shape on black blood axial
imaging (top image, white arrow). On cine imaging
an elongated RV is wrapped around the LV, forming
the apex. There is one complex papillary muscle
and an area of fatty infiltration/substitution in
the infero-lateral aspect of the LV. LV volumes
are in the normal range but LV systolic function
is significantly impaired (LVEF35). Cardiac
function is depressed (EF 35). Perspective
These are all features of Isolated Left
Ventricular Apical Hypoplasia (ILVAH). A rare
congenital cardiomyopathy previously described in
2004 and in the newborn in 2007. The natural
progression of this disease is currently not
known.
References Fernandez-Valls Heart 2004
90552-555 (free full text) Marin C et al
Pediatr. Radiol. 37703-705
Enrico Franzi, Giuseppe Leonardi. Department of
Cardiology San Vincenzo Hospital, Taormina,
Italy. Department of Cardiac Surgery 
Ferrarotto  Hospital, Catania , Italy .