Document Detail

Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants.
Jump to Full Text
MedLine Citation:
PMID:  22830313     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: Left ventricular hypertrabeculation/noncompaction (LVHT) is a cardiac abnormality of unknown etiology which has been described in children as well as in adults with and without chromosomal aberrations. LVHT has been reported in association with various cardiac and extracardiac abnormalities like epilepsy and facial dysmorphism.
CASE PRESENTATION: A unique combination of LVHT, atrial septal defect, pulmonary valve stenosis, aortic stenosis, epilepsy and minor facial anomalies is presented in a 5.5 years old girl. Microarray-based genomic hybridization (array-CGH) detected six previously not described copy number variants (CNVs) inherited from a clinically unaffected father and minimally affected mother, thus, most likely, not clinically significant but rare benign variants.
CONCLUSIONS: Despite this complex phenotype de novo microdeletions or microduplications were not detected by array CGH. Further investigations, such as whole exome sequencing, could reveal point mutations and small indels as the possible cause.
Authors:
Bert Nagel; Ursula Gruber-Sedlmayr; Sabine Uhrig; Claudia Stöllberger; Eva Klopocki; Josef Finsterer
Related Documents :
8077533 - Rotational atherectomy multicenter registry: acute results, complications and 6-month a...
15514573 - Saphenous vein graft disease.
241083 - Hemodynamic effects of procainamide and quinidine and the influence of beta-blockade be...
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2012-07-25
Journal Detail:
Title:  BMC medical genetics     Volume:  13     ISSN:  1471-2350     ISO Abbreviation:  BMC Med. Genet.     Publication Date:  2012  
Date Detail:
Created Date:  2012-11-07     Completed Date:  2013-01-31     Revised Date:  2013-07-12    
Medline Journal Info:
Nlm Unique ID:  100968552     Medline TA:  BMC Med Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  60     Citation Subset:  IM    
Affiliation:
Krankenanstalt Rudolfstiftung, Juchgasse 25, Vienna, Austria.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Aortic Valve Stenosis / diagnosis*,  genetics
Child, Preschool
DNA Copy Number Variations
Epilepsy / diagnosis*,  genetics
Face / abnormalities*
Female
Humans
Isolated Noncompaction of the Ventricular Myocardium / diagnosis*,  genetics
Oligonucleotide Array Sequence Analysis
Pulmonary Valve Stenosis / diagnosis*,  genetics
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Full Text
Journal Information
Journal ID (nlm-ta): BMC Med Genet
Journal ID (iso-abbrev): BMC Med. Genet
ISSN: 1471-2350
Publisher: BioMed Central
Article Information
Download PDF
Copyright ©2012 Nagel et al.; licensee BioMed Central Ltd.
open-access:
Received Day: 6 Month: 3 Year: 2012
Accepted Day: 25 Month: 7 Year: 2012
collection publication date: Year: 2012
Electronic publication date: Day: 25 Month: 7 Year: 2012
Volume: 13First Page: 60 Last Page: 60
PubMed Id: 22830313
ID: 3490829
Publisher Id: 1471-2350-13-60
DOI: 10.1186/1471-2350-13-60

Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants
Bert Nagel1 Email: bert.nagel@klinikum-graz.at
Ursula Gruber-Sedlmayr2 Email: ursula.gruber-sedlmayr@medunigraz.at
Sabine Uhrig3 Email: sabine.uhrig@medunigraz.at
Claudia Stöllberger4 Email: claudia.stoellberger@wienkav.at
Eva Klopocki5 Email: eva.klopocki@charite.de
Josef Finsterer4 Email: josef.finsterer@wienkav.at
1Department of Pediatric Cardiology, Medical University Graz, University Children’s Hospital, Auenbruggerplatz 30, A-8036 Graz, Austria
2Department of Pediatrics (U. Gruber-Sedlmayr), Medical University Graz, Auenbruggerplatz 30, A-8036 Graz, Austria
3Institute of Human Genetics, Medical University of Graz, Harrachgasse 21/8, A-8010 Graz, Austria
4Krankenanstalt Rudolfstiftung, Juchgasse 25, A-1030 Wien, Austria
5Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, D-13353 Berlin, Germany

Background

Left ventricular hypertrabeculation/noncompaction (LVHT) is a cardiac abnormality of unknown etiology which has been described in children as well as in adults. LVHT has been reported in association with various cardiac abnormalities, like Ebstein anomaly, pulmonary stenosis or atrial septal defect [1-12]. LVHT is associated with several extracardiac, especially neurological, abnormalities. LVHT has been reported in association with epilepsy, facial dysmorphism or minor anomalies [1,4,12-18]. Several chromosomal aberrations have been identified in LVHT associated with heart defects [1,4,8,10,12,15-17]. We present a pediatric patient with LVHT and other right and left heart defects, epilepsy and minor facial anomalies in whom microarray-based comparative genomic hybridization (array CGH) detected new copy number variants (CNVs).


Case presentation

A 5.5-year old girl had undergone surgical patch closure of a large secundum atrial septal defect with valvotomy of a moderate pulmonary stenosis at the age of 2 months; a mild aortic stenosis with a thickened tricuspid aortic valve was not corrected. She was born as the first child to non-consanguineous parents. The family history was negative for sudden cardiac death, but the maternal grandfather had epileptic seizures without fever in his youth. At the age of 12 months the girl suffered from a first afebrile seizure and at the age of 23 months from a first febrile seizure. Four months later she suffered from a series of afebrile seizures. Therefore valproic acid was started and maintained for 2 years. During this treatment she was seizure-free with normal electroencephalogram (EEG). After tapering valproic acid over a period of 2 months, short generalized paroxysmal discharges appeared on the EEG for the first time without clinical correlate. One year later she suffered from two further uncomplicated febrile seizures. Since then she is seizure-free without anticonvulsive treatment but the 24 h-EEG persistently shows subclinical absences. Since the intellectual and physical development of the patient is normal it was decided together with the parents not to restart the antiepileptic medication but to follow her up closely. Cerebral magnetic resonance imaging was normal. Clinical cardiologic, echocardiographic and neurologic examinations of the first degree relatives were normal except for the mother who showed epicanthic folds and hypertelorism. Unfortunately, the maternal grandfather did not consent with any investigations.

At inspection, she had bilateral epicanthic folds; broad eyebrows, a broad nasal tip and hypertelorism, however no ptosis or low-set ears (Figures 1 and 2). Her body weight was 18 kg (25th percentile), head circumference 51 cm (50th percentile) and height 115 cm (75th percentile). She did not complain about any cardiac symptoms and did not suffer from heart failure. Twelve-lead electrocardiogram showed normal sinus rhythm alternating with an atrio-ventricular-nodal rhythm and an incomplete right-bundle-branch-block. Twenty-four-hour electrocardiogram showed sporadic ventricular and supraventricular ectopic beats. Echocardiography revealed a mild residual valvular pulmonary stenosis with moderate pulmonary valve regurgitation and mild aortic valve stenosis with mild aortic regurgitation. Left ventricular function was normal, however, extensive hypertrabeculation resulting in a two-layered structure of the myocardium was visible in the mid-ventricular and apical segments of the left ventricle, consistent with the diagnosis of LVHT (Figures 3 and 4). Review of previous echocardiographic examinations disclosed that LVHT had been present already at age 2 years. As a primary prophylaxis for cardiac embolism aspirin 50 mg/d was started. Since she was symptom-free, no further cardiac medication was prescribed. At the latest follow-up investigation in September 2011, she was in a good cardiac and neurologic condition, no seizures had recurred and her intellectual development was normal. Echocardiography was unchanged.

Molecular genetic analyses of the PTPN11, KRAS, RAF1 and SOS1 genes were negative. Array CGH using a 1 M oligonucleotide microarray platform (Agilent Technologies, Santa Clara, CA) was performed to screen genome-wide for submicroscopic deletions and duplications [19]. Genomic positions are given according to genome-build hg18. Array CGH detected five previously not described CNVs as listed in Table 1. FISH analyses were not carried out because of the size of the CNVs. Regarding the duplications it could not be assessed whether they were tandem-duplications on the same locus or whether the duplicated fragment was inserted or translocated in another chromosome. By application of quantitative Real-Time PCR (qPCR) we could show, however, that none of the changes had developed de novo. All five CNVs are currently not listed in the Toronto Database of Genomic Variants (DGV), therefore, have to be considered as non-frequent variants in normal controls. Follow-up and testing of the index patient and her parents by qPCR revealed that all CNVs were inherited from one of the unaffected parents (maternal: deletion 1q42.3, duplication 3q26.32q26.33; paternal: duplication 14q32.11, deletion and duplication 20q13.33). We thus conclude that these changes are most likely not clinically significant CNVs but rare benign variants, although a reduced penetrance of inherited CNVs cannot be excluded.


Discussion

LVHT associated with atrial septal defect with or without pulmonary valve stenosis has been reported by several authors [2-9,11]. In most of these patients atrial septal defect and LVHT were associated with several other cardiac and extracardiac anomalies, and genetic studies revealed various mutations as listed in Table 2. However, the combination of a secundum type atrial septal defect with pulmonary stenosis and aortic stenosis in combination with LVHT has not been described to date. LVHT associated with seizures has been reported in children with monosomy 1p36 [1,15,16] and interstitial 1q43 deletion [4]. Facial anomalies and LVHT have been described previously in children with developmental impairment, interstitial 1q43 deletion [4], deletion 1p36 syndrome [1], interstitial 8p23.1 deletion [12], point mutations and deletions of the NSD1 gene located at chromosome 5q35 [17] and in an adult with sex chromosome mosaicism, male phenotype and the karyotype mos45,X(28)/46,X,+mar(21)/47,X, + 2 mar(1) [18].

CNVs are structural genomic variants due to deletions or duplications, resulting in a copy-number change of the respective genomic region. CNVs may include entire genes, regions of transcribed sequence, or nontranscribed sequences. Whereas the duplication or deletion of a gene can be expected to have an effect on gene dosage, the consequences of CNVs in nontranscribed sequences are less clear [20]. According to the resolution of the applied array platform (5–10 kb genome-wide) we currently do not have evidence for a clinically relevant chromosomal imbalance i.e. gain or loss of genomic material. However, it is still possible that an underlying chromosomal abnormality either below the detection limit of the array or a balanced rearrangement which is undetectable by array CGH is causative for the described phenotype. This assumption is supported by the previously reported chromosomal defects in LVHT associated with facial anomalies, atrial septal defect and epilepsy. The presence of a chromosomal abnormality as the underlying defect is further substantiated by the fact that LVHT is particularly prevalent in young patients with chromosomal abnormalities [21].

In patients with epilepsy, an association with a truncation mutation of the KCNMB3 gene has been described which is partly affected from the duplication on chromosome 3 [22]. However, consequences of the duplication on the transcripts of this gene were not tested, and this is why such a presumed association remains speculative.

The first CNV detected in our patient (1p12 deletion) results in a deletion of part of the NOTCH2 gene that can be mutated in Alagille syndrome, a multisystem disorder with predominantly liver-, skeletal, ophthalomologic and renal abnormalities [23]. We consider Alagille syndrome unlikely in our patient since she did not show any of these abnormalities, although highly variable expressivity of the affected systems has been described in subjects with NOTCH2 mutations [24].


Conclusions

This case shows that childhood LVHT may be associated with other cardiac abnormalities, central nervous system disease and minor facial anomalies. Despite this complex phenotype de novo microdeletions or microduplications were not detected by array CGH. Further investigations, such as whole exome sequencing, could reveal point mutations and small indels as the possible cause.

Consent

The father of the patient has given his consent for the case report to be published.


Methods
Microarray-based comparative genomic hybridization (Array CGH)

Array CGH was performed using the 1 M oligonucleotide array (SurePrint G3 Human CGH 1x 1 M microarray, Agilent Technologies, Santa Clara, CA). We used female reference DNA (Human Genomic DNA female, Promega). Processing of the array was done according to the manufacturer's instructions. Extraction of microarray TIFF images had been done by “Feature Extraction” and the following data analysis was done by the “DNA Analytics 4.0” software (both Agilent Technologies, Santa Clara, CA). The following analysis settings in DNA analytics software were applied: algorithm ADM-2, filter 5 probes, log2ratio 0.29.

Quantitative real-time PCR (qPCR)

Genomic DNA samples of the index patient and her parents were obtained from EDTA-blood. Amplicons were located within the aberrant regions as detected by array CGH and in flanking regions. Primer sequences can be obtained upon request. qPCR was performed as previously described [20].


Abbreviations

Array CGH: Microarray-based comparative genomic hybridization; CNVs: Copy number variants; LVHT: Left ventricular hypertrabeculation/noncompaction.


Competing interest

The authors declare that they have no competing interests.


Authors’ contributions

BN collected clinical data, performed follow-up investigations, drafted the manuscript. UG-S collected clinical data, performed follow-up investigations, drafted the manuscript. SU performed the description of the dysmorphic features and took the photographs. CS drafted the manuscript, performed literature research, corresponding author. EK carried out the molecular genetic studies and drafted the manuscript. JF drafted the manuscript and performed literature research. All authors read and approved the final manuscript.


Pre-publication history

The pre-publication history for this paper can be accessed here:

http://www.biomedcentral.com/1471-2350/13/60/prepub


References
Battaglia A,Hoyme HE,Dallapiccola B,Zackai E,Hudgins L,McDonald-McGinn D,Bahi-Buisson N,Romano C,Williams CA,Brailey LL,Zuberi SM,Carey JC,Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardationPediatricsYear: 200812140441010.1542/peds.2007-092918245432
Budde BS,Binner P,Waldmüller S,Höhne W,Blankenfeldt W,Hassfeld S,Brömsen J,Dermintzoglou A,Wieczorek M,May E,Kirst E,Selignow C,Rackebrandt K,Müller M,Goody RS,Vosberg HP,Nürnberg P,Scheffold T,Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain genePLoS OneYear: 20072e136210.1371/journal.pone.000136218159245
Fazio G,Pipitone S,Iacona MA,Marchi S,Mongiovi M,Zito R,Sutera L,Novo S,The noncompaction of the left ventricular myocardium: our paediatric experienceJ Cardiovasc MedYear: 2007890490810.2459/JCM.0b013e32801462b0
Kanemoto N,Horigome H,Nakayama J,Ichida F,Xing Y,Buonadonna AL,Kanemoto K,Gentile M,Interstitial 1q43-q43 deletion with left ventricular noncompaction myocardiumEur J Med GenetYear: 20064924725310.1016/j.ejmg.2005.06.00416762826
Monserrat L,Hermida-Prieto M,Fernandez X,Rodríguez I,Dumont C,Cazón L,Cuesta MG,Gonzalez-Juanatey C,Peteiro J,Alvarez N,Penas-Lado M,Castro-Beiras A,Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defectsEur Heart JYear: 2007281953196110.1093/eurheartj/ehm23917611253
Profitlich LE,Kirmse B,Wasserstein MP,Diaz GA,Srivastava S,High prevalence of structural heart disease in children with cb1C-type methylmalonic aciduria and homocystinuriaMol Genet MetabYear: 20099834434810.1016/j.ymgme.2009.07.01719767224
Tsai SF,Ebenroth ES,Hurwitz RA,Cordes TM,Schamberger MS,Batra AS,Is left ventricular noncompaction in children truly an isolated lesion?Pediatr CardiolYear: 20093059760210.1007/s00246-008-9382-119184169
Wessels MW,De Graaf BM,Cohen-Overbeek TE,Spitaels SE,de Groot-de Laat LE,Ten Cate FJ,Frohn-Mulder IF,de Krijger R,Bartelings MM,Essed N,Wladimiroff JW,Niermeijer MF,Heutink P,Oostra BA,Dooijes D,Bertoli-Avella AM,Willems PJ,A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6pHum GenetYear: 200812259560310.1007/s00439-007-0436-x17938964
De Pasquale Meyer G,Kretschmar O,Valsangiacomo Buechel ER,Kellenberger C,Bauersfeld U,Attenhofer Jost CH,Rare combination of congenital aplasia of the right pulmonary veins, left ventricular noncompaction, partial membranous obstruction of left-sided pulmonary veins and secundum atrial septal defectInt J CardiolYear: 2011152e495110.1016/j.ijcard.2010.12.00221242010
Ouyang P,Saarel E,Bai Y,Luo C,Lv Q,Xu Y,Wang F,Fan C,Younoszai A,Chen Q,Tu X,Wang QK,A de novo mutation in NKX2.5 associated with atrial septal defects, ventricular noncompaction, syncope and sudden deathClin Chim ActaYear: 201141217017510.1016/j.cca.2010.09.03520932824
Sakan H,Okayama S,Uemura S,Somekawa S,Ishigami K,Takeda Y,Kawata H,Horii M,Fujimoto S,Saito Y,Atrial right-to-left shunt without pulmonary hypertension in a patient with biventricular non-compaction cardiomyopathy accompanied by ventricular and atrial septal defectsIntern MedYear: 2011501747175110.2169/internalmedicine.50.529021841338
Blinder JJ,Martinez HR,Craigen WJ,Belmont J,Pignatelli RH,Jefferies JL,Noncompaction of the left ventricular myocardium in a boy with a novel chromosome 8p23.1 deletionAm J Med Genet AYear: 20111552215222010.1002/ajmg.a.3412921834050
Hussein A,Schmaltz AA,Trowitzsch E,Isolierte Fehlentwicklung (“Noncompaction“) des Myokards bei drei KindernKlin PädiatrYear: 1999211175178
Finsterer J,Stöllberger C,Gelpi E,Successful heart failure therapy in mitochondrial disorder with noncompaction cardiomyopathyInt J Cardiovasc ImagingYear: 20062239339810.1007/s10554-005-9073-416502323
Saito S,Kawamura R,Kosho T,Shimizu T,Aoyama K,Koike K,Wada T,Matsumoto N,Kato M,Wakui K,Fukushima Y,Bilateral perisylvian polymicrogyria, periventricular nodular heterotopia, and left ventricular noncompaction in a girl with 10.5–11.1 Mb terminal deletion of 1p36Am J Med Genet AYear: 2008146A2891289710.1002/ajmg.a.3255618925681
Thienpont B,Mertens L,Buyse G,Vermeesch JR,Devriendt K,Left-ventricular non-compaction in a patient with monosomy 1p36Eur J Med GenetYear: 20075023323610.1016/j.ejmg.2007.01.00217337261
Martinez HR,Belmont JW,Craigen WJ,Taylor MD,Jefferies JL,Left ventricular noncompaction in Sotos syndromeAm J Med Genet AYear: 2011155A1115111821484993
Altenberger H,Stöllberger C,Finsterer J,Isolated left ventricular hypertrabeculation /noncompaction in a Turner mosaic with male phenotypeActa CardiolYear: 2009649910310.2143/AC.64.1.203437019317306
Klopocki E,Ott CE,Benatar N,Ullmann R,Mundlos S,Lehmann K,A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndromeMed GenetYear: 20084537037510.1136/jmg.2007.055699
Klopocki E,Mundlos S,Copy-number variations, noncoding sequences, and human phenotypesAnnu Rev Genomics Hum GenetYear: 201112537210.1146/annurev-genom-082410-10140421756107
Finsterer J,Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/ noncompactionPediatr CardiolYear: 20093065968110.1007/s00246-008-9359-019184181
Lorenz S,Heils A,Kasper JM,Sander T,Allelic association of a truncation mutation of the KCNMB3 gene with idiopathic generalized epilepsyAm J Med Genet B Neuropsychiatr GenetYear: 2007144B101310.1002/ajmg.b.3036916958040
Varadkar P,Kraman M,Despres D,Ma G,Lozier J,McCright B,Notch2 is required for the proliferation of cardiac neural crest-derived smooth muscle cellsDev DynYear: 20082371144115210.1002/dvdy.2150218330927
Kamath BM,Bauer RC,Loomes KM,Chao G,Gerfen J,Hutchinson A,Hardikar W,Hirschfield G,Jara P,Krantz ID,Lapunzina P,Leonard L,Ling S,Ng VL,Hoang PL,Piccoli DA,Spinner NB,NOTCH2 mutations in Alagille syndromeJ Med GenetYear: 20124913814410.1136/jmedgenet-2011-10054422209762

Figures

[Figure ID: F1]
Figure 1  

Frontal pictures of the patient showing bilateral epicanthic folds, broad eyebrows, broad nasal tip and hypertelorism.



[Figure ID: F2]
Figure 2  

Lateral pictures of the patient showing bilateral epicanthic folds, broad eyebrows, broad nasal tip and hypertelorism.



[Figure ID: F3]
Figure 3  

Echocardiographic apical 4-chamber-view showing the hypertrabeculated left ventricular apex with a two-layered structure.



[Figure ID: F4]
Figure 4  

Using colour-Doppler-sonography the intertrabecular recesses are perfused from the ventricular cavity.



Tables
[TableWrap ID: T1] Table 1 

Array CGH detected CNVs


Chromosomal band CNV Start End Genes  
1p12
del
120338195
120404356
NOTCH2 (intragenic, exon 2–4)
homolog of Drosophila Notch2, MIM 600275
1q42.3
del
234409418
234422919
GPR137B (intragenic, exon 5)
G protein-coupled receptor 137B, MIM 604658
3q26.32q26.33
dup
180445165
180668097
KCNMB3 (5' partial), ZNF639, MFN1, GNB4
potassium large conductance calcium-activated channel, subfamily M beta member 3, MIM 605222; zinc finger protein 639; Mitofusin 1, MIM 608506; Guanine nucleotide-binding protein beta-4, MIM 610863
14q32.11
dup
89942827
90019073
CALM1 (3' partial)
Calmodulin 1, MIM 114180
20q13.33
del
59412001
59460188
CDH4 (intronic)
cadherin 4 (retinal cadherin), MIM 603006
20q13.33 dup 59597204 59629701 CDH4 (intronic)  

Positions according to hg18.


[TableWrap ID: T2] Table 2 

Reports about left ventricular noncompaction/hypertrabeculation with atrial septal defect


Ref. Age/sex Additional cardiac findings Extracardiac comorbidity Follow-up Genetic findings
[2]
39y/f
Eb, heart failure, EF <55
NI
NI
MYH7 mutation
[9]
16y/m
Right pulmonary vein aplasia, left-sided pulmonary vein obstruction
Right lung hypoplasia
Balloon dilatation, interventional ASD closure
NI
[10]
NI/m
AV-block I, syncope
NI
NI
NKX2.5 mutation
[11]
23y/m
VSD
NI
NI
NI
[3]
Birth/f
VSD
Agenesis of corpus callosum, facial dysmorphism, febrile seizures
Alive at 3 years, delayed psychomotor development
Interstitial 1q43 deletion
[5]
16y/m
None
NI
NI
E101K ACTC mutation
[5]
62y/m
None
NI
NI
E101K ACTC mutation
[6]
1 m/m
None
Hypotonia, developmental delay, nystagmus, strabismus, failure to thrive
NI
MMACHC mutation
[7]
5d/m
EF <55, PDA, Eb
NI
Alive
NI
[7]
1d/f
None
Ni
Alive
NI
[7]
6 m/m
Ectopic atrial rhythm, VSD
NI
Alive
NI
[7]
5y/f
WPW, Eb
NI
Alive
NI
[7]
6 m/f
EF <55, VSD, SAS, Coa
NI
Dead
NI
[7]
2 m/m
VSD
NI
Alive
NI
[7]
1 m/f
SVT, VT, VSD, PDA, DILV
NI
Alive
NI
[7]
Birth/f
EF <55, PDA
NI
Dead
NI
[7]
1d/f
VSD, PDA, BAV, LSVC
NI
Alive
NI
[7]
9 m/f
EF <55, VSD
NI
Dead
NI
[7]
2d/m
EF <55, VSD
NI
Dead
NI
[7]
3 m/m
VSD
NI
Alive
NI
[7]
6d/m
EF <55
NI
Alive
NI
[7]
9 m/m
VSD
NI
Alive
NI
[7]
7d/f
EF <55
NI
Alive
NI
[7]
1 m/m
EF <55
NI
Alive
NI
[8]
Birth/f
Sinusbradycardia, pulmonary valve atresia
BLI, ACV, abdominal situs ambiguous, polysplenia
Dead
Linkage to 6p24.3-21.2
[8]
22y/m
Sinusbradycardia, AF
BLI, ACV
Alive
Linkage to 6p24.3-21.2
[8]
32y/f
Pulmonary valve stenosis, sick sinus syndrome
ACV, polysplenia, malrotation of the gut
Alive
Linkage to 6p24.3-21.2
[8] 59y/m AF, heart failure, EF <55 Polysplenia Died suddenly Linkage to 6p24.3-21.2

NI, not indicated; EF, <55 left ventricular ejection fraction <55 %; PDA, patent ductus arteriosus; Eb, Ebstein anomaly of the tricuspid valve; VSD, ventricular septal defect; WPW, Wolff-Parkinson-White; SAS, subaortic stenosis; Coa, coarctation of the aorta; SVT, supraventricular tachycardia; VT, ventricular tachycardia; DILV, double-inlet left ventricle; BAV, bicuspid aortic valve; LSVC, left-sided superior vena cava; ACV, azygous continuation of the vena cava inferior; AF, atrial fibrillation; BLI, bronchial left isomerism.



Article Categories:
  • Case Report

Keywords: Cardiomyopathy, Congenital heart disease, Neurology, Pediatrics, Array CGH, Hypertrabeculation, Seizures.

Previous Document:  Characteristics and application of inner ear CT in 20 cases of sensorineural hearing loss in childre...
Next Document:  In silico studies of Echinococcus granulosus FABPs.