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Pediatric Cardiology
Published in: Pediatric Cardiology 5/2009

01-07-2009 | Riley Symposium

Cardiogenetics, Neurogenetics, and Pathogenetics of Left Ventricular Hypertrabeculation/Noncompaction

Author: Josef Finsterer

Published in: Pediatric Cardiology | Issue 5/2009

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Abstract

Background

Left ventricular hypertrabeculation (LVHT), also known as noncompaction or spongy myocardium, is a cardiac abnormality of unknown etiology and pathogenesis frequently associated with genetic cardiac and noncardiac disorders, particularly genetic neuromuscular disease. This study aimed to review the current knowledge about the genetic or pathogenetic background of LVHT.

Methods

A literature review of all human studies dealing with the association of LVHT with genetic cardiac and noncardiac disorders, particularly neuromuscular disorders, was conducted.

Results

Most frequently, LVHT is associated with mitochondrial disorders (mtDNA, nDNA mutations), Barth syndrome (G4.5, TAZ mutations), hypertrophic cardiomyopathy (MYH7, ACTC mutations), zaspopathy (ZASP/LDB3 mutations), myotonic dystrophy 1 (DMPK mutations), and dystrobrevinopathy (DTNA mutations). More rarely, LVHT is associated with mutations in the DMD, SCNA5, MYBPC3, FNLA1, PTPN11, LMNA, ZNF9, AMPD1, PMP22, TNNT2, fibrillin2, SHP2, MMACHC, LMX1B, HCCS, or NR0B1 genes. Additionally, LVHT occurs with a number of chromosomal disorders, polymorphisms, and not yet identified genes, as well in a familial context. The broad heterogeneity of LVHT’s genetic background suggests that the uniform morphology of LVHT not only is attributable to embryonic noncompaction but also may result from induction of hypertrabeculation as a compensatory reaction of an impaired myocardium.

Conclusions

Most frequently, LVHT is associated with mutations in genes causing muscle or cardiac disease, or with chromosomal disorders. These associations require comprehensive cardiac, neurologic, and cytogenetic investigations.
Literature
1.
Abe M, Higuchi I, Morisaki H, Morisaki T, Osame M (2000) Myoadenylate deaminase deficiency with progressive muscle weakness and atrophy caused by new missense mutations in AMPD1 gene: case report in a Japanese patient. Neuromuscul Disord 10:472–477PubMedCrossRef
2.
Adwani SS, Whitehead BF, Rees PG et al (1997) Heart transplantation for Barth syndrome. Pediatr Cardiol 18:143–145PubMedCrossRef
3.
Altenberger H, Stöllberger C, Finsterer J (2008) Isolated left ventricular hypertrabeculation/ noncompaction in a Turner mosaic with male phenotype. Acta Cardiol (in press)
4.
Amann G, Sherman FS (1992) Myocardial dysgenesis with persistent sinusoids in a neonate with Noonan’s phenotype. Pediatr Pathol 12:83–92PubMedCrossRef
5.
6.
Arimura T, Hayashi T, Terada H et al (2004) A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C. J Biol Chem 279:6746–6752PubMedCrossRef
7.
Barth PG, Valianpour F, Bowen VM et al (2004) X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. Am J Med Genet 126A:349–354CrossRefPubMed
8.
Battaglia A, Hoyme HE, Dallapiccola B et al (2008) Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics 121:404–410PubMedCrossRef
9.
Belanger AR, Miller MA, Donthireddi UR et al (2008) New classification scheme of left ventricular noncompaction and correlation with ventricular performance. Am J Cardiol 102:92–96PubMedCrossRef
10.
Benedetti S, Bertini E, Iannaccone S et al (2005) Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy. J Neurol Neurosurg Psychiatry 76:1019–1021PubMedCrossRef
11.
Benson DW, Silberbach GM, Kavanaugh-McHugh A et al (1999) Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. J Clin Invest 104:1567–1573PubMedCrossRef
12.
Bleyl SB, Mumford BR, Brown-Harrison MC et al (1997) Xq28-linked noncompaction of the left ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals. Am J Med Genet 72:257–265PubMedCrossRef
13.
Bleyl SB, Mumford BR, Thompson V et al (1997) Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndrome. Am J Hum Genet 61:868–872PubMedCrossRef
14.
Bohrer T, Klein HG, Elert O (2006) Left ventricular noncompaction associated with a genetic variant of the CYP2C9 gene. Heart Lung Circ 15:269–271PubMedCrossRef
15.
Bongers EM, de Wijs IJ, Marcelis C et al (2008) Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man. Eur J Hum Genet 16:1240–1244PubMedCrossRef
16.
Brailey LL, Powell CM, Carey JC (2006) Noncompaction of the ventricular myocardium in patients with 1p36 deletion (abstract). In: Programm and Abstracts of the American College of Medical Genetics Annual Clinical Meeting: 23–26 March 2006, San Diego, CA. Am Coll Med Genet
17.
Breckenridge RA, Anderson RH, Elliott PM (2007) Isolated left ventricular noncompaction: the case for abnormal myocardial development. Cardiol Young 17:124–129PubMedCrossRef
18.
Budde BS, Binner P, Waldmüller S et al (2007) Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene. PLoS ONE 2:e1362PubMedCrossRef
19.
Burke A, Mont E, Kutys R, Virmani R (2005) Left ventricular noncompaction: a pathological study of 14 cases. Hum Pathol 36:403–411PubMedCrossRef
20.
Chen R, Tsuji T, Ichida F et al (2002) Noncompaction study collaborators: mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompaction. Mol Genet Metab 77:319–325PubMedCrossRef
21.
Chin TK, Perloff JK, Williams RG et al (1990) Isolated noncompaction of the left ventricular myocardium: a study of eight cases. Circulation 82:507–513PubMed
22.
Corrado G, Checcarelli N, Santarone M et al (2006) Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot-Marie-Tooth disease type 1A. Cardiology 105:142–145PubMedCrossRef
23.
Davili Z, Johar S, Hughes C et al (2007) Succinate dehydrogenase deficiency associated with dilated cardiomyopathy and ventricular noncompaction. Eur J Pediatr 166:867–870PubMedCrossRef
24.
De Rosa G, Pardeo M, Bria S et al (2005) Isolated myocardial noncompaction in an infant with distal 4q trisomy and distal 1q monosomy. Eur J Pediatr 164:255–256PubMedCrossRef
25.
De Vries PJ, McCartney DL, McCartney E et al (2006) The cognitive and behavioural phenotype of Roifman syndrome. J Intellect Disabil Res 50:690–696PubMedCrossRef
26.
Donati MA, Malvagia S, Pasquini E et al (2006) Barth syndrome presenting with acute metabolic decompensation in the neonatal period. J Inherit Metab Dis 29:684PubMedCrossRef
27.
Dusek J, Ostádal B, Duskova M (1975) Postnatal persistence of spongy myocardium with embryonic blood supply. Arch Pathol 99:312–317PubMed
28.
Edston E, Perskvist N (2008) Histiocytoid cardiomyopathy and ventricular noncompaction in a case of sudden death in a female infant. Int J Legal Med (in press)
29.
Engberding R, Bender F (1984) Identification of a rare congenital anomaly of the myocardium by two-dimensional echocardiography: persistence of isolated myocardial sinusoids. Am J Cardiol 53:1733–1734PubMedCrossRef
30.
Eurlings LW, Pinto YM, Dennert RM, Bekkers SC (2008) Reversible isolated left ventricular noncompaction? Int J Cardiol (in press)
31.
Fazio G, Pipitone S, Iacona MA et al (2007) The noncompaction of the left ventricular myocardium: our paediatric experience. J Cardiovasc Med (Hagerstown) 8:904–908
32.
Fichet J, Legras A, Bernard A, Babuty D (2007) Aborted sudden cardiac death revealing isolated noncompaction of the left ventricle in a patient with Wolff–Parkinson–White syndrome. Pacing Clin Electrophysiol 30:444–447PubMedCrossRef
33.
Filesi I, Gullotta F, Lattanzi G et al (2005) Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy. Physiol Genomics 23:150–158PubMedCrossRef
34.
Finsterer J (2008) Histiocytoid cardiomyopathy: a mitochondrial disorder. Clin Cardiol 31:225–227PubMedCrossRef
35.
Finsterer J, Stöllberger C (1998) Hypertrabeculated left ventricle in mitochondriopathy. Heart 80:632PubMed
36.
Finsterer J, Stöllberger C (2001) Spontaneous left ventricular hypertrabeculation in dystrophin duplication based Becker’s muscular dystrophy. Herz 26:477–481PubMedCrossRef
37.
Finsterer J, Stöllberger C (2006) Postpartum syncope and noncompaction in suspected encephalomyopathy. South Med J 99:1304–1305PubMedCrossRef
38.
Finsterer J, Bittner R, Bodingbauer M et al (2000) Complex mitochondriopathy associated with 4 mtDNA transitions. Eur Neurol 44:37–41PubMedCrossRef
39.
Finsterer J, Stöllberger C, Kopsa W, Jaksch M (2001) Wolff–Parkinson–White syndrome and isolated left ventricular abnormal trabeculation as a manifestation of Leber’s hereditary optic neuropathy. Can J Cardiol 17:464–466PubMed
40.
Finsterer J, Stöllberger C, Wanschitz J et al (2001) Nail-patella syndrome associated with respiratory chain disorder. Eur Neurol 46:92–95PubMedCrossRef
41.
Finsterer J, Schoser B, Stöllberger C (2004) Myoadenylate-deaminase gene mutation associated with left ventricular hypertrabeculation/non-compaction. Acta Cardiol 59:453–456PubMedCrossRef
42.
Finsterer J, Stollberger C, Schubert B (2004) Acquired left ventricular hypertrabeculation/noncompaction in mitochondriopathy. Cardiology 102:228–230PubMedCrossRef
43.
Finsterer J, Stöllberger C, Kopsa W (2005) Noncompaction in myotonic dystrophy type 1 on cardiac MRI. Cardiology 103:167–168PubMedCrossRef
44.
Finsterer J, Stollberger C, Gaismayer K, Janssen B (2006) Acquired noncompaction in Duchenne muscular dystrophy. Int J Cardiol 106:420–421PubMedCrossRef
45.
Finsterer J, Kopsa W, Stöllberger C (2007) Apical hypertrophic cardiomyopathy in encephalomyopathy. J Cardiovasc Med (Hagerstown) 8:1069–1072
46.
Finsterer J, Stöllberger C, Steger C, Cozzarini W (2007) Complete heart block associated with noncompaction, nail-patella syndrome, and mitochondrial myopathy. J Electrocardiol 40:352–354PubMedCrossRef
47.
Finsterer J, Stöllberger C, Karner J et al (2007) Left ventricular hypertrabeculation (noncompaction) with prominent calcifications in a patient with mannose-binding lectin deficiency and unclassified myopathy. Cardiovasc Pathol 16:310–312PubMedCrossRef
48.
Finsterer J, Stöllberger C, Wegmann R, Janssen LAJ (2008) Acquired left ventricular hypertrabeculation/noncompaction in myotonic dystrophy type 1. Int J Cardiol (in press)
49.
Finsterer J, Stöllberger C, Bonner E (2008) Acquired noncompaction associated with coronary heart disease and myopathy. Heart Vessels (in press)
50.
Finsterer J, Stöllberger C, Feichtinger H (2008) Noncompaction and endocarditis in suspected mitochondrial disorder. Int J Cardiol 123:e45–e47PubMedCrossRef
51.
Finsterer J, Stöllberger C, Schubert B (2008) Acquired left ventricular noncompaction as a cardiac manifestation of neuromuscular disorders. Scand Cardiovasc J 42:25–30PubMedCrossRef
52.
Fishbein WN (1999) Primary, secondary, and coincidental types of myoadenylate deaminase deficiency. Ann Neurol 45:547–548PubMedCrossRef
53.
Gasser T, Dichgans M, Finsterer J et al (2001) EFNS task force on molecular diagnosis of neurologic disorders: guidelines for the molecular diagnosis of inherited neurologic diseases: first of two parts. Eur J Neurol 8:407–424PubMedCrossRef
54.
Grady RM, Grange RW, Lau KS et al (1999) Role for alpha-dystrobrevin in the pathogenesis of dystrophin-dependent muscular dystrophies. Nat Cell Biol 1:215–220PubMedCrossRef
55.
Happle R, Daniëls O, Koopman RJJ (1993) MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome. Am J Med Genet 47:710–713PubMedCrossRef
56.
Hermida-Prieto M, Monserrat L, Castro-Beiras A et al (2004) Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. Am J Cardiol 94:50–54PubMedCrossRef
57.
Hoedemaekers YM, Caliskan K, Majoor-Krakauer D et al (2007) Cardiac beta-myosin heavy chain defects in two families with noncompaction cardiomyopathy: linking noncompaction to hypertrophic, restrictive, and dilated cardiomyopathies. Eur Heart J 28:2732–2737PubMedCrossRef
58.
Hofer M, Stollberger C, Finsterer J (2007) Acquired noncompaction associated with myopathy. Int J Cardiol 121:296–297PubMedCrossRef
59.
Hook S, Ratliff NB, Rosenkranz E, Sterba R (1996) Isolated noncompaction of the ventricular myocardium. Pediatr Cardiol 17:43–45PubMedCrossRef
60.
Hussein A, Schmaltz AA, Trowitzsch E (1999) Isolated abnormality (“noncompaction”) of the myocardium in 3 children. Klin Padiatr 211:175–178PubMedCrossRef
61.
Ichida F, Hamamichi Y, Miyawaki T et al (1999) Clinical features of isolated noncompaction of the ventricular myocardium: long-term clinical course, hemodynamic properties, and genetic background. J Am Coll Cardiol 34:233–240PubMedCrossRef
62.
Ichida F, Tsubata S, Bowles KR et al (2001) Novel gene mutations inpatients with left ventricular noncompaction or Barth Syndrome. Circulation 103:1256–1263PubMed
63.
Ilercil A, Barack J, Malone MA et al (2006) Association of noncompaction of left ventricular myocardium with Ebstein’s anomaly. Echocardiography 23:432–433PubMedCrossRef
64.
Jenni R, Wyss CA, Oechslin EN, Kaufmann PA (2002) Isolated ventricular noncompaction is associated with coronary microcirculatory dysfunction. J Am Coll Cardiol 39:450–454PubMedCrossRef
65.
Jenni R, Oechslin EN, van der Loo B (2007) Isolated ventricular noncompaction of the myocardium in adults. Heart 93:11–15PubMedCrossRef
66.
Johnson MT, Zhang S, Gilkeson R et al (2006) Intrafamilial variability of noncompaction of the ventricular myocardium. Am Heart J 151:1012.e7–e14
67.
Jones KJ, Compton AG, Yang N et al (2003) Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy. Neuromuscul Disord 13:456–467PubMedCrossRef
68.
Junga G, Kneifel S, Von Smekal A et al (1999) Myocardial ischaemia in children with isolated ventricular noncompaction. Eur Heart J 20:910–916PubMedCrossRef
69.
Kaneda T, Shimizu M, Ino H et al (2005) Images in cardiovascular medicine: adult patient with isolated noncompaction of ventricular myocardium. Circulation 112:e96–e97PubMedCrossRef
70.
Kanemoto N, Horigome H, Nakayama J et al (2006) Interstitial 1q43–q43 deletion with left ventricular noncompaction myocardium. Eur J Med Genet 49:247–253PubMedCrossRef
71.
Kaski JP, Syrris P, Burch M et al (2008) Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes. Heart 94:1478–1484PubMedCrossRef
72.
Kawasaki T, Azuma A, Taniguchi T et al (2005) Heart rate variability in adult patients with isolated left ventricular noncompaction. Int J Cardiol 99:147–150PubMedCrossRef
73.
Kenton AB, Sanchez X, Coveler KJ et al (2004) Isolated left ventricular noncompaction is rarely caused by mutations in G4.5, alpha-dystrobrevin, and FK-binding protein–12. Mol Genet Metab 82:162–166PubMedCrossRef
74.
Khalid SK, Omran AS, Najm H, Godman MJ (2004) Noncompaction of the ventricular myocardium associated with mitral regurgitation and preserved ventricular systolic function. J Am Soc Echocardiogr 17:87–90CrossRef
75.
Kherbaoui-Redouani L, Eschard C, Bednarek N, Morville P (2003) Cutaneous aplasia, noncompaction of the left ventricle, and severe cardiac arrhythmia: a new case of MLS syndrome (microphtalmia with linear skin defects). Arch Pediatr 10:224–226PubMedCrossRef
76.
Kirsch J, Williamson EE, Araoz PA (2007) Noncompaction visualization using ECG-gated dual-source CT. Int J Cardiol 118:e46–e47PubMedCrossRef
77.
Klaassen S, Probst S, Oechslin E et al (2008) Mutations in sarcomere protein genes in left ventricular noncompaction. Circulation 117:2893–2901PubMedCrossRef
78.
Kline AD, Krantz ID, Sommer et al (2007) Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance. Am J Med Genet 143A:1287–1296
79.
Kobza R, Jenni R, Erne P et al (2008) Implantable cardioverter-defibrillators in patients with left ventricular noncompaction. Pacing Clin Electrophysiol 31:461–467PubMedCrossRef
80.
Korcyk D, Edwards CC, Armstrong G et al (2004) Contrast-enhanced cardiac magnetic resonance in a patient with familial isolated ventricular noncompaction. J Cardiovasc Magn Reson 6:569–576PubMedCrossRef
81.
Kuijpers TW, Maianski NA, Tool AT et al (2004) Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis. Blood 103:3915–3923PubMedCrossRef
82.
Limongelli G, Pacileo G, Marino B et al (2007) Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome. Am J Cardiol 100:736–741PubMedCrossRef
83.
Lofiego C, Biagini E, Ferlito M et al (2006) Paradoxical contributions of noncompacted and compacted segments to global left ventricular dysfunction in isolated left ventricular noncompaction. Am J Cardiol 97:738–741PubMedCrossRef
84.
Makita N, Sasaki K, Yokoshiki H (2006) Left ventricular noncompaction associated with mutations in cardiac Na channel gene SCN5A (abstract). In: Program and Abstracts of the American Heart Association Scientific Session, 12–15 November 2006, Chicago, IL
85.
Mandel K, Grunebaum E, Benson L (2001) Noncompaction of the myocardium associated with Roifman syndrome. Cardiol Young 11:240–243PubMedCrossRef
86.
Marino B, Digilio MC, Toscano A et al (1999) Congenital heart diseases in children with Noonan syndrome: an expanded cardiac spectrum with high prevalence of atrioventricular canal. J Pediatr 135:703–706PubMedCrossRef
87.
Marziliano N, Mannarino S, Nespoli L et al (2007) Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes. Am J Med Genet 143A:907–915CrossRefPubMed
88.
Matsumoto T, Watanabe A, Migita M et al (2006) Transient cardiomyopathy in a patient with congenital contractural arachnodactyly (Beals syndrome). J Nippon Med Sch 73:285–288PubMedCrossRef
89.
Mazzocco MM, Kelley RI (2001) Preliminary evidence for a cognitive phenotype in Barth syndrome. Am J Med Genet 102:372–378PubMedCrossRef
90.
McMahon CJ, Pignatelli RH, Nagueh SF et al (2007) Left ventricular noncompaction cardiomyopathy in children: characterisation of clinical status using tissue Doppler-derived indices of left ventricular diastolic relaxation. Heart 93:676–681PubMedCrossRef
91.
92.
Monserrat Iglesias L (2008) Left ventricular noncompaction: a disease in search of a definition. Rev Esp Cardiol 61:112–115PubMed
93.
Monserrat L, Hermida-Prieto M, Fernandez X et al (2007) Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular noncompaction, and septal defects. Eur Heart J 28:1953–1961PubMedCrossRef
94.
Moorman AF, Lamers WH (1999) Development of the conduction system of the vertebrate heart (abstract). In: Harvey RP, Rosenthal N (eds) Heart development. Academic Press, San Diego, pp 195–207
95.
Murphy RT, Thaman R, Blanes JG et al (2005) Natural history and familial characteristics of isolated left ventricular non-compaction. Eur Heart J 26:187–192PubMedCrossRef
96.
Nakamura T, Colbert M, Krenz M et al (2007) Mediating ERK 1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndrome. J Clin Invest 117:2123–2132PubMedCrossRef
97.
Nemes A, Anwar AM, Caliskan K et al (2008) Evaluation of left atrial systolic function in noncompaction cardiomyopathy by real-time three-dimensional echocardiography. Int J Cardiovasc Imaging 24:237–242PubMedCrossRef
98.
Neudorf UE, Hussein A, Trowitzsch E, Schmaltz AA (2001) Clinical features of isolated noncompaction of the myocardium in children. Cardiol Young 11:439–442PubMedCrossRef
99.
Norman B, Mahnke-Zizelman DK, Vallis A, Sabina RL (1998) Genetic and other determinants of AMP deaminase activity in healthy adult skeletal muscle. J Appl Physiol 85:1273–1278PubMed
100.
Oechslin EN, Attenhofer Jost CH, Rojas JR et al (2000) Long-term follow-up of 34 adults with isolated left ventricular noncompaction: a distinct cardiomyopathy with poor prognosis. J Am Coll Cardiol 36:493–500PubMedCrossRef
101.
Olasoji HO, Ambe PJ, Adesina OA (2007) Pierre Robin syndrome: an update. Niger Postgrad Med J 14:140–145PubMed
102.
Pascal C, Lefèvre M (2005) Société Française de Cardiologie: noncompaction of the myocardium in childhood. Arch Mal Coeur Vaiss 98:443–448PubMed
103.
Pauli RM, Scheib-Wixted S, Cripe L et al (1999) Ventricular noncompaction and distal chromosome 5q deletion. Am J Med Genet 85:419–423PubMedCrossRef
104.
Petersen SE, Selvanayagam JB, Wiesmann F et al (2005) Left ventricular noncompaction: insights from cardiovascular magnetic resonance imaging. J Am Coll Cardiol 46:101–105PubMedCrossRef
105.
Pfammatter JP, Paul T, Flik J et al (1995) Q-fever associated myocarditis in a 14-year-old boy. Z Kardiol 84:947–950PubMed
106.
Phillips HM, Rhee HJ, Murdoch JN et al (2007) Disruption of planar cell polarity signaling results in congenital heart defects and cardiomyopathy attributable to early cardiomyocyte disorganization. Circ Res 101:137–145PubMedCrossRef
107.
Pignatelli RH, McMahon CJ, Dreyer WJ et al (2003) Clinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathy. Circulation 108:2672–2678PubMedCrossRef
108.
Porciello R, Divona L, Strano S et al (2008) Leopard syndrome. Dermatol Online J 14:7PubMed
109.
Rankin J, Auer-Grumbach M, Bagg W et al (2008) Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. Am J Med Genet 146A:1530–1542CrossRefPubMed
110.
Ribeiro MC, Brunoni D (1987) Terminal deletion 1q43 in a newborn with hydrocephalus. Ann Genet 30:126–128PubMed
111.
Rico-Sanz J, Rankinen T, Joanisse DR et al (2003) Associations between cardiorespiratory responses to exercise and the C34T AMPD1 polymorphism in the HERITAGE family study. Physiol Genomics 14:161–166PubMed
112.
Ronghe MD, Foot AB, Martin R et al (2001) Non-Epstein-Barr virus-associated T-cell lymphoma following cardiac transplantation for Barth syndrome. Acta Paediatr 90:584–586PubMedCrossRef
113.
Sá MI, Cabral S, Costa PD et al (2007) Cardiac involvement in type 1 myotonic dystrophy. Rev Port Cardiol 27:829–840
114.
Sabina RL (2000) Myoadenylate deaminase deficiency: a common inherited defect with heterogeneous clinical presentation. Neurol Clin 18:185–194PubMedCrossRef
115.
116.
Sasse-Klaassen S, Probst S, Gerull B et al (2004) Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15. Circulation 109:2720–2723PubMedCrossRef
117.
Scaglia F, Towbin JA, Craigen WJ et al (2004) Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics 114:925–931PubMedCrossRef
118.
Schott JJ, Benson DW, Basson CT et al (1998) Congenital heart disease caused by mutations in the transcription factor NKX2–5. Science 281:108–111PubMedCrossRef
119.
120.
Selcen D, Engel AG (2005) Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol 57:269–276PubMedCrossRef
121.
Sen-Chowdhry S, McKenna WJ (2008) Left ventricular noncompaction and cardiomyopathy: cause, contributor, or epiphenomenon? Curr Opin Cardiol 23:171–175PubMedCrossRef
122.
Serés L, Lopez J, Larrousse E et al (2003) Isolated noncompaction left ventricular myocardium and polymorphic ventricular tachycardia. Clin Cardiol 26:46–48PubMedCrossRef
123.
Shan L, Makita N, Xing Y et al (2008) SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia. Mol Genet Metab 93:468–474PubMedCrossRef
124.
Siberg K, Lüdecke HJ, Ruhr F, Wieczorek D (2008) Left-ventricular noncompaction (LVNC): a clinical feature more often observed in terminal deletion 1p36 than previously expected. Eur J Med Genet (in press)
125.
Soler R, Rodríguez E, Monserrat L, Alvarez N (2002) MRI of subendocardial perfusion deficits in isolated left ventricular noncompaction. J Comput Assist Tomogr 26:373–375PubMedCrossRef
126.
Spencer CT, Bryant RM, Day J et al (2006) Cardiac and clinical phenotype in Barth syndrome. Pediatrics 118:e337–e346PubMedCrossRef
127.
Spirito P, Autore C (2007) Apical hypertrophic cardiomyopathy or left ventricular noncompaction? A difficult differential diagnosis. Eur Heart J 28:1923–1924PubMedCrossRef
128.
Steiner I, Hrubecký J, Pleskot J, Kokstejn Z (1996) Persistence of spongy myocardium with embryonic blood supply in an adult. Cardiovasc Pathol 5:47–53CrossRef
129.
Stöllberger C, Finsterer J (2004) Left ventricular hypertrabeculation/noncompaction. J Am Soc Echocardiogr 17:91–100PubMedCrossRef
130.
Stöllberger C, Finsterer J (2007) Disappearance of left ventricular hypertrabeculation/noncompaction after biventricular pacing in a patient with neuromuscular disorder. J Card Fail 13:211–214PubMedCrossRef
131.
Stöllberger C, Finsterer J, Blazek G, Bittner R (1996) Left ventricular noncompaction in a patient with Becker’s muscular dystrophy. Heart 76:380PubMedCrossRef
132.
Stöllberger C, Finsterer J, Blazek G (2002) Left ventricular hypertrabeculation/noncompaction and association with additional cardiac abnormalities and neuromuscular disorders. Am J Cardiol 90:899–902PubMedCrossRef
133.
Stöllberger C, Winkler-Dworak M, Blazek G, Finsterer J (2007) Prognosis of left ventricular hypertrabeculation/noncompaction is dependent on cardiac and neuromuscular comorbidity. Int J Cardiol 121:189–193PubMedCrossRef
134.
Stöllberger C, Hamedanchi A, Finsterer J (2008) Myopathy, apical hypertrophic cardiomyopathy, and left ventricular noncompaction within the same family. Acta Cardiol (in press)
135.
Tanpaiboon P, Callahan PF, Sloan I (2006) Noncompaction of the vnetricular myocardium and hydrops fetalis in in cobalamin C deficiency (abstract). In: Program and Abstracts of the American Society of Human Genetics. Annual Meeting, 9–13 October 2006, New Orleans, LA, American Society of Human Genetics
136.
Thienpont B, Mertens L, Buyse G et al (2007) Left-ventricular noncompaction in a patient with monosomy 1p36. Eur J Med Genet 50:233–236PubMedCrossRef
137.
Toyono M, Kondo C, Nakajima Y et al (2001) Effects of carvedilol on left ventricular function, mass, and scintigraphic findings in isolated left ventricular noncompaction. Heart 86:E4PubMedCrossRef
138.
Turleau C, de Grouchy J, Frézal J, Richardet JM (1983) Distal 1q monosomy: 2 new cases and description of the syndrome. Ann Genet 26:161–164PubMed
139.
Van Heerde M, Hruda J, Hazekamp MG (2003) Severe pulmonary hypertension secondary to a parachute-like mitral valve, with the left superior caval vein draining into the coronary sinus, in a girl with Turner’s syndrome. Cardiol Young 13:364–366PubMed
140.
Vatta M, Mohapatra B, Jimenez S et al (2003) Mutations in cypher/ZASP in patients with dilated cardiomyopathy and left ventricular noncompaction. J Am Coll Cardiol 42:2014–2027PubMedCrossRef
141.
Vijayvergiya R, Jha A, Pandian RP et al (2008) Isolated left ventricular noncompaction in association with rheumatic mitral stenosis. Int J Cardiol 123:e54–e56PubMedCrossRef
142.
Wahbi K, Meune C, Bassez G et al (2008) Left ventricular noncompaction in a patient with myotonic dystrophy type 2. Neuromuscul Disord 18:331–333PubMedCrossRef
143.
Wang JC, Dang L, Mondal TK, Khan A (2007) Prenatally diagnosed mosaic trisomy 22 in a fetus with left ventricular noncompaction cardiomyopathy. Am J Med Genet 143A:2744–2746CrossRefPubMed
144.
Watson WJ, Miller RC, Wax JR et al (2007) Sonographic detection of trisomy 13 in the first and second trimesters of pregnancy. J Ultrasound Med 26:1209–1214PubMed
145.
Wessels MW, De Graaf BM, Cohen-Overbeek TE et al (2008) A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect, and heterotaxy with suggestive linkage to chromosome 6p. Hum Genet 122:595–603PubMedCrossRef
146.
Wheeler TM, Thornton CA (2007) Myotonic dystrophy: RNA-mediated muscle disease. Curr Opin Neurol 20:572–576PubMedCrossRef
147.
Wong JA, Bofinger MK (1997) Noncompaction of the ventricular myocardium in Melnick-Needles syndrome. Am J Med Genet 71:72–75PubMedCrossRef
148.
Xing Y, Ichida F, Matsuoka T et al (2006) Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity. Mol Genet Metab 88:71–77PubMedCrossRef
149.
Yaplito-Lee J, Weintraub R, Jamsen K et al (2007) Cardiac manifestations in oxidative phosphorylation disorders of childhood. J Pediatr 150:407–411PubMedCrossRef
150.
Yen TY, Hwu WL, Chien YH et al (2008) Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review. Eur J Pediatr 167:941–944PubMedCrossRef
151.
Zaragoza MV, Arbustini E, Narula J (2007) Noncompaction of the left ventricle: primary cardiomyopathy with an elusive genetic etiology. Curr Opin Pediatr 19:619–627PubMedCrossRef
152.
Zhou Q, Chu PH, Huang C et al (2001) Ablation of Cypher, a PDZ-LIM domain Z-line protein, causes a severe form of congenital myopathy. J Cell Biol 155:605–612PubMedCrossRef
153.
Zimpfer A, Miny P, Dombrowski U et al (2007) Upper limb amelia, facial clefts, holoprosencephaly, and interrupted aortic arch. Fetal Pediatr Pathol 26:169–176PubMedCrossRef
Metadata
Title
Cardiogenetics, Neurogenetics, and Pathogenetics of Left Ventricular Hypertrabeculation/Noncompaction
Author
Josef Finsterer
Publication date
01-07-2009
Publisher
Springer-Verlag
Published in
Pediatric Cardiology / Issue 5/2009
Print ISSN: 0172-0643
Electronic ISSN: 1432-1971
DOI
https://doi.org/10.1007/s00246-008-9359-0

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