Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction

scientific article published on 29 January 2009

Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction is …
instance of (P31):
scholarly articleQ13442814
review articleQ7318358

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P356DOI10.1007/S00246-008-9359-0
P698PubMed publication ID19184181

P2093author name stringJosef Finsterer
P2860cites workLeft ventricular non-compaction associated with a genetic variant of the CYP2C9 geneQ83038808
Intrafamilial variability of noncompaction of the ventricular myocardiumQ83213204
Association of noncompaction of left ventricular myocardium with Ebstein's anomalyQ83314346
Myopathy, apical hypertrophic cardiomyopathy and left ventricular noncompaction within the same familyQ83547143
Interstitial 1q43-q43 deletion with left ventricular noncompaction myocardiumQ83953828
Persistence of spongy myocardium with embryonic blood supply in an adultQ87071735
Leopard syndromeQ21202917
Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathwaysQ22010903
Congenital heart disease caused by mutations in the transcription factor NKX2-5Q24311343
Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defectsQ24316985
Myoadenylate deaminase deficiency with progressive muscle weakness and atrophy caused by new missense mutations in AMPD1 gene: case report in a Japanese patientQ28139126
Clinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathyQ28185174
Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compactionQ28190028
Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathyQ28191769
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an updateQ28257595
Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in manQ28276610
Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genesQ28279508
Mutations in sarcomere protein genes in left ventricular noncompactionQ28281620
Mutations in ZASP define a novel form of muscular dystrophy in humansQ28304080
Effects of carvedilol on left ventricular function, mass, and scintigraphic findings in isolated left ventricular non-compactionQ28366900
Ablation of Cypher, a PDZ-LIM domain Z-line protein, causes a severe form of congenital myopathyQ28587879
Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canalQ29013212
Isolated noncompaction of left ventricular myocardium. A study of eight casesQ29038545
Isolated ventricular non-compaction of the myocardium in adultsQ30479397
Left ventricular non-compaction cardiomyopathy in children: characterisation of clinical status using tissue Doppler-derived indices of left ventricular diastolic relaxationQ30479964
Embryogenesis of the heart muscle.Q30489071
Novel gene mutations in patients with left ventricular noncompaction or Barth syndromeQ32129470
Isolated noncompaction left ventricular myocardium and polymorphic ventricular tachycardia.Q33148496
Complete heart block associated with noncompaction, nail-patella syndrome, and mitochondrial myopathyQ33154804
The noncompaction of the left ventricular myocardium: our paediatric experienceQ33155569
Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain geneQ33312381
Myoadenylate deaminase deficiency. A common inherited defect with heterogeneous clinical presentationQ33829469
A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C.Q34281800
MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndromeQ34346787
EFNS Task Force on Molecular Diagnosis of Neurologic Disorders: guidelines for the molecular diagnosis of inherited neurologic diseases. Second of two parts.Q34368117
Left ventricular hypertrabeculation/noncompaction and association with additional cardiac abnormalities and neuromuscular disordersQ34528031
Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosisQ34545022
Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathyQ46620985
Images in cardiovascular medicine. Adult patient with isolated noncompaction of ventricular myocardiumQ46652735
Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneityQ46904563
Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations.Q47286140
Acquired noncompaction in Duchenne muscular dystrophyQ47678466
Acquired left ventricular hypertrabeculation/noncompaction in myotonic dystrophy type 1.Q48427073
Genetic and other determinants of AMP deaminase activity in healthy adult skeletal muscle.Q50863856
Disappearance of left ventricular hypertrabeculation/noncompaction after biventricular pacing in a patient with polyneuropathy.Q51021376
Non-compaction visualization using ECG-gated dual-source CT.Q51035547
Histiocytoid cardiomyopathy and ventricular non-compaction in a case of sudden death in a female infant.Q51704288
Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.Q51716805
Prognosis of left ventricular hypertrabeculation/noncompaction is dependent on cardiac and neuromuscular comorbidity.Q51772640
The cognitive and behavioural phenotype of Roifman syndrome.Q51913835
Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.Q51985657
Left ventricular non-compaction in a patient with myotonic dystrophy type 2.Q54225999
Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes.Q55043683
Upper limb amelia, facial clefts, holoprosencephaly, and interrupted aortic archQ56333618
Left Ventricular Non-CompactionQ57279226
Isolated left ventricular noncompaction in association with rheumatic mitral stenosisQ57646971
Extreme phenotypic diversity and nonpenetrance in families with theLMNA gene mutation R644CQ57915574
Left-ventricular non-compaction in a patient with monosomy 1p36Q58428646
Barth syndrome presenting with acute metabolic decompensation in the neonatal periodQ60745727
Clinical features of isolated noncompaction of the myocardium in childrenQ64049247
[Isolated abnormality ("noncompaction") of the myocardium in 3 children]Q64859228
???Q64860019
Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15.Q34548313
Cardiac and clinical phenotype in Barth syndromeQ34548373
Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome.Q34581873
Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review.Q34582846
Identification of a rare congenital anomaly of the myocardium by two-dimensional echocardiography: persistence of isolated myocardial sinusoidsQ34712483
Heart transplantation for Barth syndromeQ34738301
Xq28-linked noncompaction of the left ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individualsQ34743273
Neonatal, lethal noncompaction of the left ventricular myocardium is allelic with Barth syndromeQ35249701
Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy.Q35488976
Left ventricular hypertrabeculation/noncompactionQ35623880
Mediating ERK 1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndromeQ35879519
Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.Q35909841
Evaluation of left atrial systolic function in noncompaction cardiomyopathy by real-time three-dimensional echocardiographyQ36444807
Isolated left ventricular non-compaction: the case for abnormal myocardial developmentQ36744174
Cardiac manifestations in oxidative phosphorylation disorders of childhoodQ36768559
Pierre Robin syndrome: an update.Q36864063
Sonographic detection of trisomy 13 in the first and second trimesters of pregnancyQ36917474
Myotonic dystrophy: RNA-mediated muscle diseaseQ36948043
Noncompaction of the left ventricle: primary cardiomyopathy with an elusive genetic etiologyQ37007929
Laminins and their roles in mammalsQ37064966
Acquired left ventricular noncompaction as a cardiac manifestation of neuromuscular disordersQ37084288
Left ventricular noncompaction and cardiomyopathy: cause, contributor, or epiphenomenon?Q37125753
Histiocytoid cardiomyopathy: a mitochondrial disorderQ37160460
Q-fever associated myocarditis in a 14-year-old boyQ40678353
Left ventricular non-compaction in a patient with becker's muscular dystrophyQ41341198
Hypertrabeculated left ventricle in mitochondriopathy.Q42015883
Myocardial dysgenesis with persistent sinusoids in a neonate with Noonan's phenotypeQ42140320
Role for alpha-dystrobrevin in the pathogenesis of dystrophin-dependent muscular dystrophiesQ42479843
Noncompaction and endocarditis in suspected mitochondrial disorderQ42508390
Disruption of planar cell polarity signaling results in congenital heart defects and cardiomyopathy attributable to early cardiomyocyte disorganizationQ42513805
Paradoxical contributions of non-compacted and compacted segments to global left ventricular dysfunction in isolated left ventricular noncompactionQ43487934
Noncompaction of the myocardium associated with Roifman syndromeQ43568838
Preliminary evidence for a cognitive phenotype in Barth syndromeQ43705955
Nail-patella syndrome associated with respiratory chain disorderQ43723511
Associations between cardiorespiratory responses to exercise and the C34T AMPD1 gene polymorphism in the HERITAGE Family StudyQ44463986
Isolated left ventricular noncompaction is rarely caused by mutations in G4.5, alpha-dystrobrevin and FK Binding Protein-12.Q44917198
Non-Epstein-Barr virus-associated T-cell lymphoma following cardiac transplantation for Barth syndromeQ45736704
Implantable cardioverter-defibrillators in patients with left ventricular noncompactionQ45773311
Isolated left ventricular hypertrabeculation/noncompaction in a Turner mosaic with male phenotypeQ46076963
Ventricular non-compaction--a frequently ignored finding?Q64891379
Postnatal persistence of spongy myocardium with embryonic blood supplyQ66954154
Terminal deletion 1q43 in a newborn with hydrocephalusQ68832183
[Distal 1q monosomy. 2 new cases and description of the syndrome]Q70998466
Isolated noncompaction of the ventricular myocardiumQ71460283
Noncompaction of the ventricular myocardium in Melnick-Needles syndromeQ73494624
[Cutaneous aplasia, non compaction of the left ventricle and severe cardiac arrhythmia: a new case of MLS syndrome (microphtalmia with linear skin defects)]Q73581175
Wolff-Parkinson-White syndrome and isolated left ventricular abnormal trabeculation as a manifestation of Leber's hereditary optic neuropathyQ73821590
Complex mitochondriopathy associated with 4 mtDNA transitionsQ74001046
MRI of subendocardial perfusion deficits in isolated left ventricular noncompactionQ74118855
Long-term follow-up of 34 adults with isolated left ventricular noncompaction: a distinct cardiomyopathy with poor prognosisQ74137278
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 syndromeQ75207316
Noncompaction of the ventricular myocardium associated with mitral regurgitation and preserved ventricular systolic functionQ75231101
Primary, secondary, and coincidental types of myoadenylate deaminase deficiencyQ77351212
Spontaneous left ventricular hypertrabeculation in dystrophin duplication based Becker's muscular dystrophyQ77417332
Isolated ventricular noncompaction is associated with coronary microcirculatory dysfunctionQ77583405
Myocardial ischaemia in children with isolated ventricular non-compactionQ77753606
Ventricular noncompaction and distal chromosome 5q deletionQ77977029
Mutation analysis of the G4.5 gene in patients with isolated left ventricular noncompactionQ78618188
Succinate dehydrogenase deficiency associated with dilated cardiomyopathy and ventricular noncompactionQ79327256
Transient cardiomyopathy in a patient with congenital contractural arachnodactyly (Beals syndrome)Q79360049
Acquired noncompaction associated with myopathyQ79365024
Postpartum syncope and noncompaction in suspected encephalomyopathyQ79461886
Aborted sudden cardiac death revealing isolated noncompaction of the left ventricle in a patient with wolff-Parkinson-white syndromeQ79969581
Contrast-enhanced cardiac magnetic resonance in a patient with familial isolated ventricular non-compactionQ80072066
Cardiac involveent in type 1 myotonic dystrophyQ80178244
Apical hypertrophic cardiomyopathy in encephalomyopathyQ80418570
Myoadenylate-deaminase gene mutation associated with left ventricular hypertrabeculation/non-compactionQ80566515
Apical hypertrophic cardiomyopathy or left ventricular non-compaction? A difficult differential diagnosisQ80595470
Acquired left ventricular hypertrabeculation/noncompaction in mitochondriopathyQ80796054
[Left ventricular noncompaction: a disease in search of a definition]Q80948772
SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmiaQ80962193
Natural history and familial characteristics of isolated left ventricular non-compactionQ81195653
Left ventricular hypertrabeculation (noncompaction) with prominent calcifications in a patient with mannose-binding lectin deficiency and unclassified myopathyQ81296617
Isolated myocardial non-compaction in an infant with distal 4q trisomy and distal 1q monosomyQ81309032
Heart rate variability in adult patients with isolated left ventricular noncompactionQ81421041
Prenatally diagnosed mosaic trisomy 22 in a fetus with left ventricular non-compaction cardiomyopathyQ81442931
A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6pQ81446307
Cardiac beta-myosin heavy chain defects in two families with non-compaction cardiomyopathy: linking non-compaction to hypertrophic, restrictive, and dilated cardiomyopathiesQ81463300
New classification scheme of left ventricular noncompaction and correlation with ventricular performanceQ81503881
Noncompaction in myotonic dystrophy type 1 on cardiac MRIQ81563018
Leopard syndromeQ81642619
Left ventricular noncompaction: a pathological study of 14 casesQ81744515
Reversible isolated left ventricular non-compaction?Q81768712
Left-ventricular non-compaction (LVNC): a clinical feature more often observed in terminal deletion 1p36 than previously expectedQ81817746
[Non-compaction of the myocardium in childhood]Q81869732
Left ventricular hypertrabeculation/noncompaction with PMP22 duplication-based Charcot-Marie-Tooth disease type 1AQ82436482
P433issue5
P921main subjectneurogeneticsQ17165278
pathogenesisQ372016
P304page(s)659-681
P577publication date2009-01-29
P1433published inPediatric CardiologyQ2232591
P1476titleCardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction
P478volume30

Reverse relations

cites work (P2860)
Q41130952A novel lamin A/C gene missense mutation (445 V > E) in immunoglobulin-like fold associated with left ventricular non-compaction
Q36806830Arrhythmias in MELAS syndrome
Q34260666Barth syndrome in a female patient
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Q30459704Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management
Q36240429Cardiomyopathy Phenotypes and Outcomes for Children With Left Ventricular Myocardial Noncompaction: Results From the Pediatric Cardiomyopathy Registry
Q89220285Causality between myopathic hypotonia-cystinuria syndrome (HCS) and noncompaction (LVHT) is not compelling
Q36485435Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes.
Q91687635Congenital nystagmus, disability, visual impairment, and noncompaction suggest hereditary disease
Q37250617Consider Differentials of MRI Myocarditis in Noncompaction
Q46677478Consider a Nongenetic Pathogenesis of Noncompaction.
Q46672845Considerations about the genetics of left ventricular hypertrabeculation/non-compaction
Q39453560Diagnostic uncertainties and future perspectives in noncompaction cardiomyopathy.
Q28293427Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy
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Q53849980Explanations for discordance of noncompaction in monozygotic twins.
Q84371679Fetal diagnosis of left-ventricular noncompaction cardiomyopathy in identical twins with discordant congenital heart disease
Q36783111Fkbp1a controls ventricular myocardium trabeculation and compaction by regulating endocardial Notch1 activity.
Q41194481Genetic Testing Is Not Required for Diagnosing Left Ventricular Hypertrabeculation / Non-Compaction.
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Q101046145Heterogeneous phenotypic expression of C1QBP variants is attributable to variable heteroplasmy of secondary mtDNA deletions and mtDNA copy number
Q47097663Heteroplasmy of the m.3243A>G Mutation May Influence Phenotypic Heterogeneity
Q35004125High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria
Q33583105Hyperthyroidism and noncompaction
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Q42939647Is sildenafil a therapeutic option for noncompaction?
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Q36784413Single-Cell Lineage Tracing Reveals that Oriented Cell Division Contributes to Trabecular Morphogenesis and Regional Specification
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Q89276772[Mitochondrial disorders require a comprehensive perioperative management]

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