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Clinical Characterization of Left Ventricular Noncompaction in Children A Relatively Common Form of Cardiomyopathy

Clinical Characterization of Left Ventricular Noncompaction in Children A Relatively Common Form of Cardiomyopathy,Ricardo H. Pignatelli,Colin J. McMa

Clinical Characterization of Left Ventricular Noncompaction in Children A Relatively Common Form of Cardiomyopathy   (Citations: 58)
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Ricardo H. Pignatelli, Colin J. McMahon, William J. Dreyer, Susan W. Denfield, Jack Price, John W. Belmont, William J. Craigen, Jen Wu, Howaida El Said, Louis I. Bezold, Sarah Clunie, Susan Fernbachhttp://academic.research.microsoft.com/io.ashx?type=5&id=10178536&selfId1=0&selfId2=0&maxNumber=12&query=
Background—Left ventricular noncompaction (LVNC) is a reportedly uncommon genetic disorder of endocardial morphogenesis with a reportedly high mortality rate. The purpose of this study was to identify the clinical characteristics of children with LVNC. Methods and Results—We retrospectively reviewed 36 children with LVNC evaluated at Texas Children's Hospital (TCH) from January 1997 to December 2002. Five children had associated cardiac lesions. There were 16 girls and 20 boys. The median age at presentation was 90 days (range, 1 day to 17 years). The median duration of follow-up was 3.2 years (range, 0.5 to 12 years). Twenty-seven patients (75%) had ECG abnormalities, most commonly biventricular hypertrophy (10 patients, 28%). Both ventricles were involved in 8 patients (22%) and only the left ventricle in 28 patients (78%). Left ventricular systolic function was depressed in 30 patients (83%), with a median ejection fraction of 30% (range, 15% to 66%) at diagnosis. Nine patients presenting in the first year of life with depressed left ventricular contractility had a transient recovery of function; however, ejection fraction deteriorated later in life, at a median interval of 6.3years (range, 3 to 12 years). Two patients had an "undulating" phenotype from dilated to hypertrophic cardiomyopathy. Two patients (6%) were identified with an underlying G4.5 gene mutation. Five patients (14%) died during the study. Conclusions—LVNC does not have an invariably fatal course when diagnosed in the neonatal period. A significant number of patients have transient recovery of function followed by later deterioration, which may account for many patients presenting as adults, some manifesting an "undulating" phenotype. (Circulation. 2003;108:2672-2678.)
Published in 2011.
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    • ...Other LVNC patients have presented with a deficiency in respiratory chain complexes I–III [...

    Sinda Zarrouk Mahjoubet al. Transition m.3308T>C in the ND1 Gene Is Associated with Left Ventricul...

    • ...In up to 82% of the LVHT patients, an MP can be detected. MPs so far associated with LVHT are MIDs, dystrophinopathies, DM1, DM2, EDMD, zaspopathy, dystrobrevinopathy, Barth syndrome, or myoadenylate-deaminase deficiency [,,...

    Josef Finstereret al. Stroke in Myopathies

    • ...Crude retrospective estimates from two separate studies suggest that the prevalence of IVNC approximates to 1 in 1000 children...

    S B Nairet al. Isolated left ventricular non-compaction: an emerging cause of heart f...

    • ...In another single center series, IVNC was responsible for 9.5% of cardiomyopathies in children [...

    T. Kovacevic-Preradovicet al. Isolated Left Ventricular Noncompaction as a Cause for Heart Failure a...

    • ...In addition to cases with primary noncompaction of the ventricular myocardium or ‘‘spongy myocardium’’ [9, 29, 47], the diagnosis of myocardial noncompaction has also been applied to other forms of myocardial disease presenting with prominent trabeculae, such as dilated cardiomyopathy and acquired left ventricular hypertrophy secondary to systemic hypertension [29] or left-sided obstructive congenital cardiac malformations [45]...
    • ...Although the disease process typically occurs in the left ventricle, involvement of the right ventricle has been described in less than half of patients [1, 26, 45, 47, 68]...
    • ...These include the G4.5 gene on chromosome Xq28 [3, 28, 45], which is also responsible for the Barth syndrome [2], Xlinked endocardial fibroelastosis, and severe X-linked cardiomyopathy [12]...
    • ...At the other end of the spectrum are patients with very localized forms of myocardial noncompaction that can be asymptomatic for prolonged periods, with the diagnosis only being made at an old age [3, 27, 45, 46]...
    • ...Heart failure is a common presentation of patients with myocardial noncompaction [3, 27, 43, 45, 65]...
    • ...Excessive trabeculae in larger numbers can be found, for example, in patients with left ventricular hypertrophy secondary to pressure overload from systemic hypertension or congenital left ventricular outflow tract obstruction [29, 45]...
    • ...The spectrum ranges from a prolonged asymptomatic course to rapid progressive heart failure leading tohearttransplantationordeath[3,27,45,46].Once symptomsoccur,rapidclinicaldeteriorationischaracteristic [26, 43, 47], although in patients presenting in the first year of life, a transient recovery of ventricular function followed by later deterioration is possible [45]...
    • ...The spectrum ranges from a prolonged asymptomatic course to rapid progressive heart failure leading tohearttransplantationordeath[3,27,45,46].Once symptomsoccur,rapidclinicaldeteriorationischaracteristic [26, 43, 47], although in patients presenting in the first year of life, a transient recovery of ventricular function followed by later deterioration is possible [45]...

    U. Bartramet al. Primary Noncompaction of the Ventricular Myocardium from the Morphogen...

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