title: Isolated ventricular non-compaction: clinical study and genetic review.
abstract: 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).
authors.affiliation: Department of Pediatric Cardiology, Medical University of Silesia, Medyków 16, 40-752 Katowice, Poland. ejaniszewska@slam.katowice.pl
authors.forename: Grazyna
authors.initials: G
authors.lastname: Markiewicz-Loskot
authors.forename: Ewa
authors.initials: E
authors.lastname: Moric-Janiszewska
authors.forename: Maria
authors.initials: M
authors.lastname: Loskot
authors.forename: Leslaw
authors.initials: L
authors.lastname: Szydlowski
authors.forename: Ludmila
authors.initials: L
authors.lastname: Weglarz
authors.forename: Andrzej
authors.initials: A
authors.lastname: Hollek
mesh_terms: D000217:Acyltransferases; D009202:Cardiomyopathies / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D002675:Child, Preschool; D002877:Chromosomes, Human / Q000235:genetics; D049029:Dystrophin-Associated Proteins / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D006333:Heart Failure / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007223:Infant; D007438:Introns / Q000235:genetics; D034904:Lamin Type A / Q000235:genetics; D008297:Male; D020125:Mutation, Missense; D011506:Proteins / Q000235:genetics; D022821:RNA Splice Sites / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics; D022061:Tacrolimus Binding Protein 1A / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics
chemical_list: D049029:Dystrophin-Associated Proteins; C494847:LMNA protein, human; D034904:Lamin Type A; D011506:Proteins; D022821:RNA Splice Sites; D012333:RNA, Messenger; D014157:Transcription Factors; C098885:dystrobrevin; D000217:Acyltransferases; C108675:TAFAZZIN protein, human; D022061:Tacrolimus Binding Protein 1A