Unmet needs in the cardiologic and neurologic work-up of left ventricular hypertrabeculation/noncompaction

References

• Tamborini G, Pepi M, Celeste F, et al. Incidence and characteristics of left ventricular false tendons and trabeculations in the normal and pathologic heart by second harmonic echocardiography. J Am Soc Echocardiogr. 2004;17:367–374.
   PubMed Web of Science ®Google Scholar
• Boyd MT, Seward JB, Tajik AJ, et al. Frequency and location of prominent left ventricular trabeculations at autopsy in 474 normal human hearts: implications for evaluation of mural thrombi by two-dimensional echocardiography. J Am Coll Cardiol. 1987;9:323–326.
   PubMed Web of Science ®Google Scholar
• Roberts WC, Karia SJ, Ko JM, et al. Examination of isolated ventricular noncompaction (hypertrabeculation) as a distinct entity in adults. Am J Cardiol. 2011;108:747–752.
   PubMed Web of Science ®Google Scholar
• Gati S, Rajani R, Carr-White GS, et al. Adult left ventricular noncompaction: reappraisal of current diagnostic imaging modalities. JACC Cardiovasc Imaging. 2014;7:1266–1275.
   PubMed Web of Science ®Google Scholar
• Bellet S, Gouley BA. Congenital heart disease with multiple cardiac anomalies. Report of a case showing aortic atresia, fibrous scar in myocardium and embryonal sinusoidal remains. Am J Med Sci. 1932;183:458–465.
   Google Scholar
• Feldt RH, Rahimtoola SH, Davis GD, et al. Anomalous ventricular myocardial patterns in a child with complex congenital heart disease. Am J Cardiol. 1969;23:732–734.
   PubMed Web of Science ®Google Scholar
• Engberding R, Bender F. Identification of a rare congenital anomaly of the myocardium by two-dimensional echocardiography: persistence of isolated myocardial sinusoids. Am J Cardiol. 1984;53:1733–1734.
   PubMed Web of Science ®Google Scholar
• Maron BJ, Towbin JA, Thiene G, et al. Contemporary definitions and classification of the cardiomyopathies. An American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation. 2006;113:1807–1816.
   PubMed Web of Science ®Google Scholar
• Elliott P, Andersson B, Arbustini E, et al. Classification of the cardiomyopathies: a position statement from the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2008;29:270–276.
   PubMed Web of Science ®Google Scholar
• Towbin JA, Lorts A, Jefferies JL. Left ventricular non-compaction cardiomyopathy. Lancet. 2015;386:813–825.
   PubMed Web of Science ®Google Scholar
• Jenni R, Oechslin E, Schneider J, et al. Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy. Heart. 2001;86:666–671.
   PubMed Web of Science ®Google Scholar
• Stöllberger C, Finsterer J, Blazek G. Left ventricular hypertrabeculation/noncompaction in 62 patients: association with additional cardiac abnormalities and neuromuscular disorders. Am J Cardiol. 2002;90:899–901.
   PubMed Web of Science ®Google Scholar
• Frischknecht BS, Attenhofer Jost CH, Oechslin EN, et al. Validation of noncompaction criteria in dilated cardiomyopathy, and valvular and hypertensive heart disease. J Am Soc Echocardiogr. 2005;18:865–872.
   PubMed Web of Science ®Google Scholar
• Chin TK, Perloff JK, Williams RG, et al. Isolated noncompaction of left ventricular myocardium. A study of eight cases. Circulation. 1990;82:507–513.
   PubMed Web of Science ®Google Scholar
• Ichida F, Hamamichi Y, Miyawaki T, et al. Clinical features of isolated noncompaction of the ventricular myocardium. Long-term clinical course, hemodynamic properties, and genetic background. J Am Coll Cardiol. 1999;34:233–240.
   PubMed Web of Science ®Google Scholar
• Oechslin EN, Attenhofer Jost CH, Rojas JR, et al. Long term follow-up of 34 adults with isolated left ventricular noncompaction: a distinct cardiomyopathy with poor prognosis. J Am Coll Cardiol. 2000;36:493–500.
   PubMed Web of Science ®Google Scholar
• Belanger AR, Miller MA, Donthireddi UR, et al. New classification scheme of left ventricular noncompaction and correlation with ventricular performance. Am J Cardiol. 2008;102:92–96.
   PubMed Web of Science ®Google Scholar
• Stanton C, Bruce C, Connolly H, et al. Isolated left ventricular noncompaction syndrome. Am J Cardiol. 2009;104:1135–1138.
   PubMed Web of Science ®Google Scholar
• Stöllberger C, Gerecke B, Finsterer J, et al. Refinement of echocardiographic criteria for left ventricular noncompaction. Int J Cardiol. 2013;165:463–467.
   PubMed Web of Science ®Google Scholar
• Brescia ST, Rossano JW, Pignatelli R, et al. Mortality and sudden death in pediatric left ventricular noncompaction in a tertiary referral center. Circulation. 2013;127:2202–2208.
   PubMed Web of Science ®Google Scholar
• Kohli SK, Pantazis AA, Shah JS, et al. Diagnosis of left-ventricular non-compaction in patients with left-ventricular systolic dysfunction: time for a reappraisal of diagnostic criteria? Eur Heart J. 2008;29:89–95.
   PubMed Web of Science ®Google Scholar
• Habib G, Charron P, Eicher J-C, et al.; Working Groups ‘Heart Failure and Cardiomyopathies’ and ‘Echocardiography’ of the French Society of Cardiology. Isolated left ventricular non-compaction in adults: clinical and echocardiographic features in 105 patients. Results from a French registry. Eur J Heart Fail. 2011;13:177–185.
   PubMed Web of Science ®Google Scholar
• Zuckerman WA, Richmond ME, Singh RK, et al. Left-ventricular noncompaction in a pediatric population: predictors of survival. Pediatr Cardiol. 2011;32:406–412.
   PubMed Web of Science ®Google Scholar
• Stöllberger C, Gerecke B, Engberding R, et al. Interobserver agreement of the echocardiographic diagnosis of LV hypertrabeculation/noncompaction. JACC Cardiovasc Imaging. 2015;8:1252–1257.
   PubMed Web of Science ®Google Scholar
• Petersen SE, Selvanayagam JB, Wiesmann F, et al. Left ventricular non-compaction: insights from cardiovascular magnetic resonance imaging. J Am Coll Cardiol. 2005;46:101–105.
   PubMed Web of Science ®Google Scholar
• Jacquier A, Thuny F, Jop B, et al. Measurement of trabeculated left ventricular mass using cardiac magnetic resonance imaging in the diagnosis of left ventricular non-compaction. Eur Heart J. 2010;31:1098–1104.
   PubMed Web of Science ®Google Scholar
• Captur G, Muthurangu V, Cook C, et al. Quantification of left ventricular trabeculae using fractal analysis. J Cardiovasc Magn Reson. 2013 May 10;15:36. doi:10.1186/1532-429X-15-36.
   PubMed Web of Science ®Google Scholar
• Bricq S, Frandon J, Bernard M, et al. Semiautomatic detection of myocardial contours in order to investigate normal values of the left ventricular trabeculated mass using MRI. J Magn Reson Imaging. 2016;43:1398–1406.
   PubMed Web of Science ®Google Scholar
• Kini V, Ferrari VA, Han Y, et al. Adherence to thresholds: overdiagnosis of left ventricular noncompaction cardiomyopathy. Acad Radiol. 2015;22:1016–1019.
   PubMed Web of Science ®Google Scholar
• Amzulescu M-S, Rousseau MF, Ahn SA, et al. Prognostic impact of hypertrabeculation and noncompaction phenotype in dilated cardiomyopathy: a CMR study. JACC Cardiovasc Imaging. 2015;8:934–946.
   PubMed Web of Science ®Google Scholar
• Kawel N, Nacif M, Arai AE, et al. Trabeculated (noncompacted) and compact myocardium in adults: the multi-ethnic study of atherosclerosis. Circ Cardiovasc Imaging. 2012;5:357–366.
   PubMed Web of Science ®Google Scholar
• Chaowu Y, Li L, Shihua Z. Histopathological features of delayed enhancement cardiovascular magnetic resonance in isolated left ventricular noncompaction. J Am Coll Cardiol. 2011;58:311–312.
   PubMed Web of Science ®Google Scholar
• Dursun M, Agayev A, Nisli K, et al. MR imaging features of ventricular noncompaction: emphasis on distribution and pattern of fibrosis. Eur J Radiol. 2010;74:147–151.
   PubMed Web of Science ®Google Scholar
• Gao X-J, Li Y, Kang L-M, et al. Abnormalities of myocardial perfusion and glucose metabolism in patients with isolated left ventricular non-compaction. J Nucl Cardiol. 2014;21:633–642.
   PubMed Web of Science ®Google Scholar
• Sidhu MS, Uthamalingam S, Ahmed W, et al. Defining left ventricular noncompaction using cardiac computed tomography. J Thorac Imaging. 2014;29:60–66.
   PubMed Web of Science ®Google Scholar
• Ionescu CN, Turcot D. Left ventricular noncompaction and aneurysm revealed by left ventriculography. Catheter Cardiovasc Interv. 2012;80:109–111.
   PubMed Web of Science ®Google Scholar
• Gerger D, Stöllberger C, Grassberger M, et al. Pathomorphologic findings in left ventricular hypertrabeculation/noncompaction of adults in relation to neuromuscular disorders. Int J Cardiol. 2013;169:249–253.
   PubMed Web of Science ®Google Scholar
• Dawson DK, McLernon DJ, Raj VJ, et al. Cardiovascular magnetic resonance determinants of left ventricular noncompaction. Am J Cardiol. 2014;114:456–462.
   PubMed Web of Science ®Google Scholar
• Sedmera D, Pexieder T, Vuillemin M, et al. Developmental patterning of the myocardium. Anat Rec. 2000;258:319–337.
   PubMedGoogle Scholar
• Jensen B, Agger P, de Boer BA, et al. The hypertrabeculated (noncompacted) left ventricle is different from the ventricle of embryos and ectothermic vertebrates. Biochim Biophys Acta. 2016 Oct 26;1863:1696–1706. doi:10.1016/j.bbamcr.2015.10.018.
   PubMed Web of Science ®Google Scholar
• Greenbaum RA, Ho SY, Gibson DG, et al. Left ventricular fibre architecture in man. Br Heart J. 1981;45:248–263.
   PubMedGoogle Scholar
• Bogaert J, Rademakers FE. Regional nonuniformity of normal adult human left ventricle. Am J Physiol Heart Circ Physiol. 2001;280:H610–H620.
   PubMed Web of Science ®Google Scholar
• Gati S, Papadakis M, Papamichael ND, et al. Reversible de novo left ventricular trabeculations in pregnant women: implications for the diagnosis of left ventricular noncompaction in low-risk populations. Circulation. 2014;130:475–483.
   PubMed Web of Science ®Google Scholar
• Poscolieri B, Bianco M, Vessella T, et al. Identification of benign form of ventricular non-compaction in competitive athletes by multiparametric evaluation. Int J Cardiol. 2014;176:1134–1136.
   PubMed Web of Science ®Google Scholar
• Piga A, Longo F, Musallam KM, et al. Left ventricular noncompaction in patients with β-thalassemia: uncovering a previously unrecognized abnormality. Am J Hematol. 2012;87:1079–1083.
   PubMed Web of Science ®Google Scholar
• Finsterer J, Stöllberger C, Gaismayer K, et al. Acquired noncompaction in Duchenne muscular dystrophy. Int J Cardiol. 2006;106:420–421.
   PubMed Web of Science ®Google Scholar
• Finsterer J, Stöllberger C. Acquired/hidden noncompaction in metabolic encephalopathy with non-convulsive epileptic state. Int J Cardiol. 2014;172:e341–e343.
   PubMed Web of Science ®Google Scholar
• Minamisawa M, Koyama J, Kozuka A, et al. Regression of left ventricular hypertrabeculation is associated with improvement in systolic function and favorable prognosis in adult patients with non-ischemic cardiomyopathy. J Cardiol. 2015 Dec 28. doi:10.1016/j.jjcc.2015.11.008.
   Web of Science ®Google Scholar
• D’Ascenzi F, Pelliccia A, Natali BM, et al. Exercise-induced left-ventricular hypertrabeculation in athlete’s heart. Int J Cardiol. 2015;181:320–322.
   PubMed Web of Science ®Google Scholar
• Caselli S, Autore C, Serdoz A, et al. Three-dimensional echocardiographic characterization of patients with left ventricular noncompaction. J Am Soc Echocardiogr. 2012;25:203–209.
   PubMed Web of Science ®Google Scholar
• Peters NS, Severs NJ, Rothery SM, et al. Spatiotemporal relation between gap junctions and fascia adherens junctions during postnatal development of human ventricular myocardium. Circulation. 1994;90:713–725.
   PubMed Web of Science ®Google Scholar
• Pinali C, Bennett HJ, Davenport JB, et al. Three-dimensional structure of the intercalated disc reveals plicate domain and gap junction remodeling in heart failure. Biophys J. 2015;108:498–507.
   PubMed Web of Science ®Google Scholar
• Gittenberger-de Groot AC, Winter EM, Bartelings MM, et al. The arterial and cardiac epicardium in development, disease and repair. Differentiation. 2012;84:41–53.
   PubMed Web of Science ®Google Scholar
• Stehbens WE, Delahunt B, Zuccollo JM. The histopathology of endocardial sclerosis. Cardiovasc Pathol. 2000;9:161–173.
   PubMed Web of Science ®Google Scholar
• Jenni R, Wyss CA, Oechslin EN, et al. Isolated ventricular noncompaction is associated with coronary microcirculatory dysfunction. J Am Coll Cardiol. 2002;39:450–454.
   PubMed Web of Science ®Google Scholar
• Ker J, Du Toit-Prinsloo L, Van Heerden WF, et al. Subendocardial fibrosis in left ventricular hypertrabeculation-cause or consequence? Clin Med Insights Cardiol. 2011;5:13–16.
   PubMedGoogle Scholar
• Caliskan K, Ujvari B, Bauernfeind T, et al. The prevalence of early repolarization in patients with noncompaction cardiomyopathy presenting with malignant ventricular arrhythmias. J Cardiovasc Electrophysiol. 2012;23:938–944.
   PubMed Web of Science ®Google Scholar
• Fazio G, Corrado G, Novo G, et al. Ventricular dysfunction and number of non compacted segments in non compaction: non-independent predictors. Int J Cardiol. 2010;141:250–253.
   PubMed Web of Science ®Google Scholar
• Stöllberger C, Blazek G, Gessner M, et al. Age-dependency of cardiac and neuromuscular findings in adults with left ventricular hypertrabeculation/noncompaction. Am J Cardiol. 2015;115:1287–1292.
   PubMed Web of Science ®Google Scholar
• Engberding R, Yelbuz TM, Breithardt G. Isolated noncompaction of the left ventricular myocardium – a review of the literature two decades after the initial case description. Clin Res Cardiol. 2007;96:481–488.
   PubMed Web of Science ®Google Scholar
• Stöllberger C, Wegner C, Finsterer J. Fetal ventricular hypertrabeculation/noncompaction: clinical presentation, genetics, associated cardiac and extracardiac abnormalities and outcome. Pediatr Cardiol. 2015;36:1319–1326.
   PubMed Web of Science ®Google Scholar
• Kawasaki T, Azuma A, Taniguchi T, et al. Heart rate variability in adult patients with isolated left ventricular noncompaction. Int J Cardiol. 2005;99:147–150.
   PubMed Web of Science ®Google Scholar
• Murphy RT, Thaman R, Blanes JG, et al. Natural history and familial characteristics of isolated left ventricular non-compaction. Eur Heart J. 2005;26:187–192.
   PubMed Web of Science ®Google Scholar
• Aras D, Tufekcioglu O, Ergun K, et al. Clinical features of isolated ventricular noncompaction in adults long-term clinical course, echocardiographic properties, and predictors of left ventricular failure. J Card Fail. 2006;12:726–733.
   PubMed Web of Science ®Google Scholar
• Lofiego C, Biagini E, Pasquale F, et al. Wide spectrum of presentation and variable outcomes of isolated left ventricular non-compaction. Heart. 2007;93:65–71.
   PubMed Web of Science ®Google Scholar
• Caliskan K, Szili-Torok T, Theuns DA, et al. Indications and outcome of implantable cardioverter-defibrillators for primary and secondary prophylaxis in patients with noncompaction cardiomyopathy. J Cardiovasc Electrophysiol. 2011;22:898–904.
   PubMed Web of Science ®Google Scholar
• Correia E, Rodrigues B, Santos L, et al. Noncompaction of the ventricular myocardium: characterization and follow-up of an affected population. Rev Port Cardiol. 2011;30:323–331.
   PubMedGoogle Scholar
• Enríquez RA, Baeza VR, Gabrielli NL, et al. Non compaction cardiomyopathy: a series of 15 cases. Rev Med Chil. 2011;139:864–871.
   PubMed Web of Science ®Google Scholar
• Greutmann M, Mah ML, Silversides CK, et al. Predictors of adverse outcome in adolescents and adults with isolated left ventricular noncompaction. Am J Cardiol. 2012;109:276–281.
   PubMed Web of Science ®Google Scholar
• Kimura K, Takenaka K, Ebihara A, et al. Prognostic impact of left ventricular noncompaction in patients with Duchenne/Becker muscular dystrophy – prospective multicenter cohort study. Int J Cardiol. 2013;168:1900–1904.
   PubMed Web of Science ®Google Scholar
• Stöllberger C, Blazek G, Winkler-Dworak M, et al. [Sex differences in left ventricular noncompaction in patients with and without neuromuscular disorders]. Rev Esp Cardiol. 2008;61:130–136. Spanish.
   PubMed Web of Science ®Google Scholar
• Steffel J, Kobza R, Oechslin E, et al. Electrocardiographic characteristics at initial diagnosis in patients with isolated left ventricular noncompaction. Am J Cardiol. 2009;104:984–989.
   PubMed Web of Science ®Google Scholar
• Steffel J, Hürlimann D, Namdar M, et al. Long-term follow-up of patients with isolated left ventricular noncompaction. Role of electrocardiography in predicting poor outcome. Circ J. 2011;75:1728–1734.
   PubMed Web of Science ®Google Scholar
• Stöllberger C, Blazek G, Wegner C, et al. Heart failure, atrial fibrillation and neuromuscular disorders influence mortality in left ventricular hypertrabeculation/noncompaction. Cardiology. 2011;119:176–182.
   PubMed Web of Science ®Google Scholar
• Stöllberger C, Gerger D, Wegner C, et al. Quantitative electrocardiographic measures, neuromuscular disorders, and survival in left ventricular hypertrabeculation/noncompaction. Ann Noninvasive Electrocardiol. 2013;18:251–255.
   PubMed Web of Science ®Google Scholar
• Das MK, Maskoun W, Shen C, et al. Fragmented QRS on twelve-lead electrocardiogram predicts arrhythmic events in patients with ischemic and nonischemic cardiomyopathy. Heart Rhythm. 2010;7:74–80.
   PubMed Web of Science ®Google Scholar
• Cetin MS, Ozcan Cetin EH, Canpolat U, et al. Usefulness of fragmented QRS complex to predict arrhythmic events and cardiovascular mortality in patients with noncompaction cardiomyopathy. Am J Cardiol. 2016;117:1516–1523.
   PubMed Web of Science ®Google Scholar
• Ning X-H, Tang M, Chen K-P, et al. The prognostic significance of fragmented QRS in patients with left ventricular noncompaction cardiomyopathy. Can J Cardiol. 2012;28:508–514.
   PubMed Web of Science ®Google Scholar
• Patton KK, Ellinor PT, Ezekowitz M, et al.; American Heart Association Electrocardiography and Arrhythmias Committee of the Council on Clinical Cardiology and Council on Functional Genomics and Translational Biology. Electrocardiographic early repolarization: a scientific statement from the American Heart Association. Circulation. 2016;133:1520–1529.
   PubMed Web of Science ®Google Scholar
• Stöllberger C, Gerger D, Jirak P, et al. Evolution of electrocardiographic abnormalities in association with neuromuscular disorders and survival in left ventricular hypertrabeculation/noncompaction. Ann Noninvasive Electrocardiol. 2014;19:567–573.
   PubMed Web of Science ®Google Scholar
• Finsterer J. Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction. Pediatr Cardiol. 2009;30:659–681.
   PubMed Web of Science ®Google Scholar
• Stöllberger C, Blazek G, Gessner M, et al. Neuromuscular comorbidity, heart failure, and atrial fibrillation as prognostic factors in left ventricular hypertrabeculation/noncompaction. Herz. 2015;40:906–911.
   PubMed Web of Science ®Google Scholar
• Finsterer J, Stöllberger C, Blazek G, et al. Familial left ventricular hypertrabeculation (noncompaction) is myopathic. Int J Cardiol. 2013;164:312–317.
   PubMed Web of Science ®Google Scholar
• Ponikowski P, Voors AA, Anker SD, et al. Authors/Task Force Members; Document Reviewers. 2016 ESC guidelines for the diagnosis and treatment of acute and chronic heart failure: the task force for the diagnosis and treatment of acute and chronic heart failure of the European Society of Cardiology (ESC) developed with the special contribution of the Heart Failure Association (HFA) of the ESC. Eur Heart J. 2016;37:2129–2200.
   Web of Science ®Google Scholar
• Stöllberger C, Finsterer J, Sodeck GH, et al. Complete atrioventricular block and reversible systolic dysfunction in left ventricular hypertrabeculation/non-compaction with metabolic myopathy. Cardiol Young. 2011;21:229–232.
   PubMed Web of Science ®Google Scholar
• Stöllberger C, Blazek G, Dobias C, et al. Frequency of stroke and embolism in left ventricular hypertrabeculation/noncompaction. Am J Cardiol. 2011;108:1021–1023.
   PubMed Web of Science ®Google Scholar
• Priori SG, Blomström-Lundqvist C, Mazzanti A, et al. 2015 ESC guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: the task force for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death of the European Society of Cardiology (ESC). Endorsed by: association for European Paediatric and Congenital Cardiology (AEPC). Eur Heart J. 2015;36:2793–2867.
   PubMed Web of Science ®Google Scholar
• Sakai Y, Sato Y, Matsuo S, et al. Perforation of the right ventricular free wall by an ICD lead in a patient with isolated noncompaction of the ventricular myocardium. Int J Cardiol. 2007;117:e104–e106.
   PubMedGoogle Scholar
• Stöllberger C, Stix A, Finsterer J. Overreaction to noncompaction in a patient with ankylosing spondylitis, Parkinson disease, migraine and myopathy. Int J Cardiol. 2011;150:e11–e14.
   PubMed Web of Science ®Google Scholar
• Stöllberger C, Keller H, Steger C, et al. Implantable loop-recorders in myopathic and non-myopathic patients with left ventricular hypertrabeculation/noncompaction. Int J Cardiol. 2013;163:146–148.
   PubMed Web of Science ®Google Scholar
• Stöllberger C, Finsterer J. Wearable cardioverter-defibrillator in a patient with left ventricular noncompaction/hypertrabeculation, coronary artery disease, and polyneuropathy. Ann Noninvasive Electrocardiol. 2015;20:79–81.
   PubMed Web of Science ®Google Scholar
• Bertini M, Ziacchi M, Biffi M, et al. Effects of cardiac resynchronisation therapy on dilated cardiomyopathy with isolated ventricular non-compaction. Heart. 2011;97:295–300.
   PubMed Web of Science ®Google Scholar