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Case Reports
. 2015 Jan;15(1):71-2.
doi: 10.5152/akd.2014.5722. Epub 2014 Dec 25.

Case of fatal heart failure with biventricular noncompaction, genital skeletal abnormalities and mental retardation

Affiliations
Case Reports

Case of fatal heart failure with biventricular noncompaction, genital skeletal abnormalities and mental retardation

Halil Ataş et al. Anatol J Cardiol. 2015 Jan.
No abstract available

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Figures

Figure 1
Figure 1
Gross appearance of the patient revealing macrocephaly, acromegaloid facial appearance, arachnodactyly, pectus carinatum, bilateral amazia, and mild scoliosis
Figure 2
Figure 2
Transthoracic echocardiography of the patient revealing prominent trabeculations and intertrabecular recesses in the left ventricle
Figure 3
Figure 3
Cardiac magnetic resonance imaging of the patient confirming the findings of transthoracic echocardiography

Comment in

References

    1. Nakashima K, Kusakawa I, Yamamoto T, Hirabayashi S, Hosoya R, Shimizu W, et al. A left ventricular noncompaction in a patient with long QT syndrome caused by a KCNQ1 mutation: a case report. Heart Vessels. 2013;28:126–9. [CrossRef] - PubMed
    1. Ritter M, Oechslin E, Sütsch G, Attenhofer C, Schneider J, Jenni R. Isolated noncom-paction of the myocardium in adults. Mayo Clin Proc. 1997;72:26–31. [CrossRef] - PubMed
    1. Ojala T, Polinati P, Manninen T, Hiippala A, Rajantie J, Karikoski R, et al. New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies. Pediatr Res. 2012;72:432–7. [CrossRef] - PubMed
    1. Özcan KS, Osmonov D, Altay S, Güngör B, Eren M. Fertile eunuch syndrome in association with biventricular noncompaction, bicuspid aortic valve, severe aortic stenosis, and talipes equinovarus. Tex Heart Inst J. 2013;40:204–6. - PMC - PubMed
    1. Najjar SS, Kaloustian VM, der Nassif SI. Genital anomaly, mental retardation, and cardiomyopathy: a new syndrome? J Pediatr. 1973;83:286–8. [CrossRef] - PubMed

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