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Isolated ventricular non-compaction: clinical study and genetic review Markiewicz-Loskot G; Moric-Janiszewska E; Loskot M; Szydlowski L; Weglarz L; Hollek AEuropace 2006[Dec]; 8 (12): 1064-7Isolated 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).|Acyltransferases[MESH]|Cardiomyopathies/*diagnosis/drug therapy/*genetics/physiopathology[MESH]|Child, Preschool[MESH]|Chromosomes, Human/genetics[MESH]|Dystrophin-Associated Proteins/genetics[MESH]|Female[MESH]|Follow-Up Studies[MESH]|Genetic Diseases, Inborn/*diagnosis/drug therapy/*genetics/physiopathology[MESH]|Heart Defects, Congenital/*diagnosis/drug therapy/*genetics/physiopathology[MESH]|Heart Failure/*diagnosis/drug therapy/*genetics/physiopathology[MESH]|Humans[MESH]|Infant[MESH]|Introns/genetics[MESH]|Lamin Type A/genetics[MESH]|Male[MESH]|Mutation, Missense[MESH]|Proteins/genetics[MESH]|RNA Splice Sites/genetics[MESH]|RNA, Messenger/genetics[MESH]|Tacrolimus Binding Protein 1A/genetics[MESH]|Transcription Factors/genetics[MESH] |
