Journal Article

Isolated ventricular non-compaction: clinical study and genetic review

Grażyna Markiewicz-Łoskot, Ewa Moric-Janiszewska, Maria Łoskot, Lesław Szydłowski, Ludmiła Węglarz and Andrzej Hollek

in EP Europace

Published on behalf of European Heart Rhythm Association of the European Society of Cardiology (ESC)

Volume 8, issue 12, pages 1064-1067
Published in print December 2006 | ISSN: 1099-5129
Published online November 2006 | e-ISSN: 1532-2092 | DOI: http://dx.doi.org/10.1093/europace/eul125
Isolated ventricular non-compaction: clinical study and genetic review

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Isolated non-compaction of the ventricular myocardium (INVM), sometimes referred to as ‘spongy myocardium’, is a congenital and exceedingly rare cardiomyopathy. Isolated ventricular non-compaction occurs in the absence of other structural heart diseases and, hypothetically, it is due to the arrest of myocardial morphogenesis. Isolated non-compaction of the ventricular myocardium may manifest itself from infancy to young adulthood with a high mortality rate. Both sexes are affected. In our study, we present a case of INVM (left and right ventricles) in a 3-year-old girl, diagnosed by two-dimensional echocardiography. The anomaly presented as a restrictive cardiomyopathy. The girl was admitted to our hospital with heart failure, when she was 10 months old. She was treated with dopamine, digoxin, furosemide, spironolactone, and acenocoumarol and her condition improved. Presently, the girl remains asymptomatic and for 3 years of follow-up, her development has been almost normal. We here describe the genetic background of this disorder (based on a literature review).

Keywords: Congenital heart anomaly; Ventricular non-compaction; Restrictive cardiomyopathy; Heart failure; G 4.5 (tafazzin gene); α-dystrobrevin gene (DTNA); FKBP-12 gene; Lamin A/C gene

Journal Article.  1992 words.  Illustrated.

Subjects: Cardiovascular Medicine

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