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      Isolated Left Ventricular Noncompaction: An Unclassified Cardiomyopathy with Severe Prognosis in Adults


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          Noncompaction of the ventricular myocardium is a rare congenital cardiomyopathy, which appears to represent an arrest in intrauterine endomyocardial morphogenesis. It is diagnosed both in children and adults. Its common presentation involves heart failure symptoms, ventricular tachyarrhythmias and thromboembolic events, but the age of onset varies widely. The diagnosis is made by the combined appearance of numerous, excessively prominent trabeculations and multiple deep intertrabecular recesses perfused from the ventricular cavity, commonly involving the apical and midventricular segments of the left ventricle. Although the peculiar echocardiographic picture may possibly lead to the correct diagnosis, this condition may be often misdiagnosed or unrecognized since it is not widely known.

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          Cardiac defects and altered ryanodine receptor function in mice lacking FKBP12.

          FKBP12, a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin, is ubiquitously expressed and interacts with proteins in several intracellular signal transduction systems. Although FKBP12 interacts with the cytoplasmic domains of type I receptors of the transforming growth factor-beta (TGF-beta) superfamily in vitro, the function of FKBP12 in TGF-beta superfamily signalling is controversial. FKBP12 also physically interacts stoichiometrically with multiple intracellular calcium release channels including the tetrameric skeletal muscle ryanodine receptor (RyR1). In contrast, the cardiac ryanodine receptor, RyR2, appears to bind selectively the FKBP12 homologue, FKBP12.6. To define the functions of FKBP12 in vivo, we generated mutant mice deficient in FKBP12 using embryonic stem (ES) cell technology. FKBP12-deficient mice have normal skeletal muscle but have severe dilated cardiomyopathy and ventricular septal defects that mimic a human congenital heart disorder, noncompaction of left ventricular myocardium. About 9% of the mutants exhibit exencephaly secondary to a defect in neural tube closure. Physiological studies demonstrate that FKBP12 is dispensable for TGF-beta-mediated signalling, but modulates the calcium release activity of both skeletal and cardiac ryanodine receptors.
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            Myocardial ischaemia in children with isolated ventricular non-compaction.

            Isolated ventricular non-compaction is a rare congenital cardiomyopathy with a high morbidity and mortality due to malignant arrhythmias and pump failure. Areas affected by non-compaction are characterized by increased trabecularization and deep inter-trabecular spaces. We hypothesized perfusion defects in these areas and performed positron emission tomography to evaluate the myocardial perfusion in non-compacted areas. Five children (age 10-14 years) with isolated ventricular non-compaction underwent positron emission tomography using N-13-ammonia as flow marker and intravenous dipyridamole for stress testing. Myocardial blood flow was quantified using the positron emission tomography time-activity curves in non-compacted areas and normal myocardium, which were diagnosed by echocardiography, magnetic resonance imaging, and angiography. Coronary angiography, performed in two children with extensive forms of left ventricular non-compaction, demonstrated normal coronary arteries. Myocardial blood flow measurements at rest and after dipyridamole application demonstrated 16-33% and 32-57% perfusion impairment, respectively, in non-compacted areas compared to normal myocardium. Areas of restricted myocardial perfusion corresponded well to the non-compacted areas, defined echographically and by magnetic resonance imaging. Positron emission tomography demonstrates restricted myocardial perfusion and decreased flow reserve in areas of ventricular non-compaction in children. The myocardial perfusion defects in non-compacted areas may be the cause of myocardial damage and possibly form the basis of arrhythmias and pump failure. Copyright 1999 The European Society of Cardiology.
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              Isolated noncompaction of the myocardium.


                Author and article information

                S. Karger AG
                September 2002
                26 September 2002
                : 98
                : 1-2
                : 25-32
                Departments of aCardiology and bRadiology, University of Athens, Greece
                64677 Cardiology 2002;98:25–32
                © 2002 S. Karger AG, Basel

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                Page count
                Figures: 4, Tables: 1, References: 46, Pages: 8
                General Cardiology

                General medicine,Neurology,Cardiovascular Medicine,Internal medicine,Nephrology
                Arrhythmias,Echocardiography,Differential diagnosis,Noncompaction,Heart failure,Cardiomyopathy


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