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      Left Ventricular Hypertrabeculation/Noncompaction with PMP22 Duplication-Based Charcot-Marie-Tooth Disease Type 1A


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          A 50-year-old women with Charcot-Marie-Tooth hereditary neuropathy type 1A due to the PMP22 duplication on chromosome 17p11.2-12 developed a left bundle branch block and progressive dilatation of the left ventricle since age 40 years and recurrent heart failure since age 44 years. At age 50 years left ventricular hypertrabeculation/noncompaction was first recognized on transthoracic echocardiography. A possible causal relation between the cardiac abnormalities and the PMP22 duplication is discussed.

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          Most cited references 7

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          Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction.

          We evaluated the role of Cypher/ZASP in the pathogenesis of dilated cardiomyopathy (DCM) with or without isolated non-compaction of the left ventricular myocardium (INLVM). Dilated cardiomyopathy, characterized by left ventricular dilation and systolic dysfunction with signs of heart failure, is genetically transmitted in 30% to 40% of cases. Genetic heterogeneity has been identified with mutations in multiple cytoskeletal and sarcomeric genes causing the phenotype. In addition, INLVM with a hypertrophic dilated left ventricle, ventricular dysfunction, and deep trabeculations, is also inherited, and the genes identified to date differ from those causing DCM. Cypher/ZASP is a newly identified gene encoding a protein that is a component of the Z-line in both skeletal and cardiac muscle. Diagnosis of DCM was performed by echocardiogram, electrocardiogram, and physical examination. In addition, levels of the muscular isoform of creatine kinase were measured to evaluate for skeletal muscle involvement. Cypher/ZASP was screened by denaturing high performance liquid chromatography (DHPLC) and direct deoxyribonucleic acid sequencing. We identified and screened 100 probands with left ventricular dysfunction. Five mutations in six probands (6% of cases) were identified in patients with familial or sporadic DCM or INLVM. In vitro studies showed cytoskeleton disarray in cells transfected with mutated Cypher/ZASP. These data suggest that mutated Cypher/ZASP can cause DCM and INLVM and identify a mechanistic basis.
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            Left ventricular hypertrabeculation/noncompaction.

            In normal human hearts the left ventricle (LV) has up to 3 prominent trabeculations and is, thus, less trabeculated than the right ventricle. Rarely, more than 3 prominent trabeculations can be found at autopsy and by various imaging techniques in the LV. For this abnormality, different synonyms are used such as spongy myocardium, LV noncompaction, and LV hypertrabeculation (LVHT). In this review it is stated that: (1) LVHT has a higher prevalence than previously thought and the prevalence of LVHT seems to increase with the improvement of cardiac imaging; (2) because LVHT is most frequently diagnosed primarily by echocardiography, echocardiographers should be aware and trained to recognize this abnormality; (3) LVHT is frequently associated with other cardiac and extracardiac, particularly neuromuscular, disorders; (4) there are indications that the cause of LVHT is usually a genetic one and quite heterogeneous; and (5) controversies exist about diagnostic criteria, nomenclature, prognosis, origin, pathogenesis, and the necessity to classify LVHT as a distinct entity and cardiomyopathy by the World Health Organization.
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              Connexin gene mutations in human genetic diseases


                Author and article information

                S. Karger AG
                March 2006
                03 April 2006
                : 105
                : 3
                : 142-145
                aUnita Operativa di Cardiologia and bUnita Operativa di Neurologia, Ospedale Valduce, Como, Italy; cSecond Medical Department and dDepartment of Neurology, Krankenanstalt Rudolfstiftung, Vienna, Austria
                91152 Cardiology 2006;105:142–145
                © 2006 S. Karger AG, Basel

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                Figures: 1, Tables: 1, References: 10, Pages: 4
                Original Research


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