Left ventricular non-compaction: a new mutation predisposing to reverse remodeling?
Left ventricular non-compaction (LVNC) is a rare disorder of endomyocardial morphogenesis that results in multiple trabeculations and deep intertrabecular recesses filled with direct blood flow from the left ventricular cavity. LVNC is attracting increasing interest as a model for the study of cardiomyopathies, since it is a genetically heterogeneous disorder which varies greatly in clinical presentation and age of onset. The authors present the case of a young black male with progressive congestive heart failure of 2-3 years' evolution. The investigation, which included transthoracic echocardiography (contrast and 3D), transesophageal echocardiography and cardiac magnetic resonance imaging, showed LVNC and severe aortic regurgitation, with severe left ventricular systolic dysfunction. The family history was suggestive of genetically transmitted disease and genetic study of the TAZ gene at locus Xq28 identified the mutation p.Phe128Ser (c.383T>C), the first description of this mutation in a patient with LVNC. The patient underwent aortic valve replacement, with excellent clinical evolution, regression of left ventricular dimensions and global systolic functio Aortic regurgitation (not related to LVNC) was the determining factor in the clinical expression. However, the excellent reverse remodeling that occurred after surgery highlights the heterogeneity of myocardial behavior in LVNC patients.
Serviço de Cardiologia, Hospital de Santa Maria, Lisboa, Portugal.
Nuno
N
Cortez-Dias
Manuel Gato
MG
Varela
Luís
L
Sargento
Dulce
D
Brito
Ana
A
Almeida
Rlita
R
Cerqueira
Vasco
V
Lança
Alexandra Ramos
AR
Fernandes
Purificação
P
Tavares
Ricardo Arruda
RA
Pereira
Afonso
A
Fernandes
Hugo
H
Madeira
D000293:Adolescent; D009202:Cardiomyopathies / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006352:Heart Ventricles; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D020257:Ventricular Remodeling / Q000235:genetics*