Skip to main content

Coexistence of congenital left ventricular aneurysm and prominent left ventricular trabeculation in a patient with LDB3 mutation: a case report



The coexistence of congenital left ventricular aneurysm and abnormal cardiac trabeculation with gene mutation has not been reported previously. Here, we report a case of coexisting congenital left ventricular aneurysm and prominent left ventricular trabeculation in a patient with LIM domain binding 3 gene mutation.

Case presentation

A 30-year-old Asian man showed paroxysmal sinus tachycardia and Q waves in an electrocardiogram health check. There were no specific findings in physical examinations and serological tests. A coronary-computed tomography angiography check showed normal coronary artery and no coronary stenosis. Both left ventricle contrast echocardiography and cardiac magnetic resonance showed rare patterns of a combination of an apical aneurysm-like out-pouching structure with a wide connection to the left ventricle and prominent left ventricular trabecular meshwork. High-throughput sequencing examinations showed a novel mutation in the LDB3 gene (c.C793>T; p.Arg265Cys).


Our finding indicates that the phenotypic expression of two heart conditions, congenital left ventricular aneurysm and prominent left ventricular trabeculation, although rare, can occur simultaneously with LDB3 gene mutation. Congenital left ventricular aneurysm and prominent left ventricular trabeculation may share the same genetic background.

Peer Review reports


Congenital left ventricular aneurysm (LVA) is a rare cardiac malformation first described in 1816, and characterized as an akinetic or dyskinetic structure with a wide connection to the left ventricle [1]. Significant morbidity and mortality is associated with congenital LVA due to systemic embolization, valvular regurgitation, ventricular wall rupture, ventricular tachycardia, or sudden cardiac death [2]. The pathogenesis for congenital LVA during the complex embryologic development is not well understood, and several theories exist [3]. To date, no known genetic abnormalities have been found in this disease. Congenital LVA is associated with numerous other congenital anomalies [3], including those of the heart itself, or those of vascular or extracardiac structures; the most frequent associated cardiac abnormalities were ventricular septal defect [4], coronary anomalies [5], and atrial septal defect [6]. Abnormal cardiac trabeculation is observed in congenital heart diseases [7] and genetic cardiomyopathies [8, 9], and may serve as a measurable phenotypic marker that will allow insights into how genetic cardiomyopathies and congenital heart diseases arise and develop [10]. Gene mutations have been confirmed as the causative factors for genetic cardiomyopathies [11]. And there is increasing identification of genetic abnormalities linking the developmental defects in congenital heart diseases [12]. Therefore, whether gene mutation is associated with this rare combination is of interest. We report a rare case of coexisting congenital LVA and prominent left ventricular (LV) trabeculation with LIM domain binding 3 (LDB3) gene mutation (c.C793>T; p.Arg265Cys), which was not reported in the public databases of Human Gene Mutation Database (HGMD; or Single Nucleotide Polymorphism database (dbSNP; The genetic discovery from this case may open the door to a better understanding of abnormal cardiac development and affect clinical care of patients with congenital LVA.

Case presentation

A 30-year-old Asian man was admitted to our hospital because of the finding of unusual Q waves of electrocardiogram (ECG) in his first health examination and an abnormal pattern of his left ventricle in a following transthoracic echocardiography check. He has no risk factors of cardiovascular diseases, and no history of coronary artery disease or myocarditis. He presented for years with unspecific symptoms like palpitation and vague, intermittent chest pain, which were unrelated to physical exertion, and he did not receive any medical intervention for these symptoms in the past.

On general physical examination he had a body temperature of 36.7 °C and a heart rate of 84 beats per minute in a normal condition and 121 beats per minute in a cardiopalmus condition. His respiratory rate was 16 breaths per minute. He had a blood pressure of 110/72 mm Hg and an oxygen saturation of 98% on room air. His cardiac examination was normal; there were no murmurs or extracardiac sounds on auscultation. His complete physical examination including a neurological examination was unremarkable. Laboratory tests revealed: normal markers of myocardial injury, for example MB isoenzyme of creatine kinase (CK-MB), high-sensitive troponin I (hsTnI), lactate dehydrogenase (LDH), and aspartate aminotransferase (AST); a positive enterovirus (EVs) -ribonucleic acid (RNA); and negative coxsackievirus B (CoxB)3 -immunoglobulin M (IgM), CoxB5-IgM, and cytomegalovirus ©-IgM in the virologic examination. The antinuclear antibody (ANA) spectrum showed a positive anti-double-stranded deoxyribonucleic acid (dsDNA) antibody, and the titer of anti-ANA was within a normal range. Other ANAs were negative. The inflammatory indicators of C-reactive protein (CRP), antistreptolysin O (ASO), and erythrocyte sedimentation rate (ESR) were within the normal ranges. Routine laboratory tests for liver, renal, electrolytes, and blood glucose were normal. His low-density lipoprotein (LDL) cholesterol was mildly elevated (3.4 mmol/L) in the serum lipid profile and the other lipids were within normal range (Table 1). His blood, urine, and stool routine tests were all normal (data not shown). The ECG was reexamined and showed paroxysmal sinus tachycardia and Q waves in I-III, avF, and V4 to V6 leads (Fig. 1a). A subsequent coronary-computed tomography angiography (CTA) check showed normal coronary artery and no coronary stenosis (Fig. 1b). Both left ventricle contrast echocardiography and cardiac magnetic resonance (CMR) demonstrated that apical congenital LVA coexisted with prominent LV trabeculation (Fig. 2a–d). We re-evaluated his medical history carefully and comprehensively and found no family history of heart diseases or genetic diseases.

Table 1 Laboratory data of the patient
Fig. 1
figure 1

Electrocardiogram and computed tomography angiography at diagnosis. Panel a Twelve-lead electrocardiogram showing sinus tachycardia (121 beats per minute) and Q waves in I to III, avF, and V4 to V6 leads (arrow). Panel b Computed tomography angiography showing normal coronary artery and no coronary stenosis

Fig. 2
figure 2

Contrast echocardiography and cardiac magnetic resonance at diagnosis. Panel a, b Contrast echocardiography. a Apical short-axis view of left ventricle showing prominent left ventricular trabeculae and deep intertrabecular recesses (arrowheads). b Transapical view of the left ventricular apex showing an aneurysm-like out-pouching structure with a wide connection to the left ventricle (arrow). Panel c, d Magnetic resonance imaging. c Left ventricle short-axis view showing prominent left ventricular trabeculae and deep intertrabecular recesses (arrowheads). d Left ventricular outflow tract view showing an apical protrusion with a wide connection to the left ventricle (arrow)

For further evaluating the genetic background of this rare combination, his DNA was isolated from a peripheral blood sample and screened for mutations by high-throughput sequencing, which aimed at cardiomyopathy-related genes, after informed consent was obtained. These mutations have been reported in five major cardiomyopathies, including hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), restrictive cardiomyopathy (RCM), and LV non-compaction (LVNC) [11]. In this case, a heterozygous missense variant in LDB3 gene (c.C793>T; p.Arg265Cys) was identified. The variant was considered to be probably pathogenic because of the following criteria: (1) it was not reported in the public databases of HGMD ( or dbSNP (; and (2) it predicted pathogenic mutation by multiple in silico algorithms (MutationTaster, PolyPhen-2, Align-GVGD, SIFT, and PANTHER). No other mutations were identified in the gene test. The final diagnosis of our patient was coexistence of congenital LVA and prominent LV trabeculation with LDB3 mutation (c.C793>T; p.Arg265Cys). There was no occurrence of complications or new cardiac symptoms during a 3-month follow-up evaluation and he had a normal cardiac function after he was discharged. An annual follow-up was scheduled for further assessment.


To the best of our knowledge, this is the first report of a case of a combination of congenital LVA and prominent LV trabeculation with a gene mutation. Congenital LVA is a rare cardiac anomaly, which is described as an akinetic or dyskinetic structure with a wide connection to the left ventricle [3], and can be associated with ECG abnormalities and rhythm disturbances [13]. Human LV cardiac trabeculation is highly variable among individuals. Increased LV trabeculation is associated with other cardiac abnormalities, such as congenital heart diseases [7, 14] and cardiomyopathies, such as LVNC [15], HCM [8], and DCM [9], it has also been observed in healthy individuals [16,17,18]. Congenital LVA appears to be a developmental anomaly and was explained by a partial stop in the development of the embryologic ventricular wall, starting in the 4th embryonic week [3]. However, the underlying mechanisms of congenital LVA are still unclear.

The current diagnosis of congenital LVA is based on exclusion of other diseases which may induce acquired LV aneurysms, that is, coronary artery disease [19], autoimmune connective tissue disease [20], myocarditis [21], cardiomyopathies [22, 23], as well as traumatic causes [24]. Acquired aneurysms are very difficult to distinguish from congenital LV aneurysms without knowledge of the past history and a coronary angiogram. Most LV aneurysms are acquired aneurysms forming after myocardial infarction with systolic bulging of the scarred myocardium. This patient is absent of history of myocardial infarction. Laboratory tests revealed a normal myocardial enzyme spectrum, and a CTA check showed normal coronary artery and no coronary stenosis, which ruled out coronary artery disease. LV aneurysms may also result from myocarditis. Frustaci et al. [25] reported that among 353 patients with a diagnosis of myocarditis, 12 (3.3%) had single or multiple localized LV aneurysms [7]. This patient has neither history of myocarditis, nor clear evidence supporting the clinical diagnosis of myocarditis. His inflammatory indicators (CRP, ASO, and ESR) and markers of myocardial injury (for example, CK-MB or hsTnI) were all normal. Besides, virus serology is frequently used in clinical practice for the diagnosis of myocarditis [26]. We then conducted virological tests, aiming at the most commonly reported causative agents for myocarditis (that is, EVs, coxsackievirus, and C), and identified a positive EVs-RNA and negative serum antibodies for CoxB3-IgM, CoxB5-IgM, and C-IgM. A positive EVs-RNA suggests an EVs infection. However, EVs-RNA also commonly occurs in individuals with upper respiratory tract infection [27, 28], and even in healthy individuals [29, 30]. Moreover, recent research suggested that, for patients with suspected myocarditis, virus serology has no relevance for the diagnosis of myocardial infection [31]. For aiding precise diagnosis, we also used a CMR examination. CMR can distinguish between normal myocardial cells and those with myocarditis, providing a more accurate diagnosis of myocarditis [32]. This patient showed no features of edema, hyperemia and capillary leak, or necrosis and fibrosis, which are the three main kinds of cardiac tissue change seen in myocarditis. Therefore, the diagnosis of myocarditis cannot be made according to the diagnostic criteria in adults [33, 34]. Cardiomyopathies also have to be excluded since a right ventricular dysplasia can occasionally spread to the left ventricle [23], and apical LV aneurysms have also been described in the context of hypertrophic obstructive cardiomyopathy [22]. The diagnosis of HCM and right ventricular dysplasia relies on multiple imaging modalities, such as contrast-enhanced echocardiography and CMR [35, 36], and additional ECG markers also contribute to improve diagnostic sensitivity [36]. There was no image characterization in this patient that was compliant with the diagnostic criteria of these cardiomyopathies accessed by both contrast-enhanced echocardiography and CMR. What is more, a genetic study, aimed at cardiomyopathy-related genes [11], was also performed. And a mutation in the LDB3 gene was identified. Autoimmune connective tissue disorder, such as systemic lupus erythematosus (SLE), has been reported to induce LV aneurysm [20]. Testing for ANAs is the screening test for patients in whom SLE is suspected [37]. We evaluated the ANA spectrum including 13 ANAs aimed at screening the main autoimmune connective tissue diseases, that is, SLE, Sjögren’s syndrome (SS), systemic scleroderma (SSc), dermatomyositis (DM), mixed connective tissue disease (MCTD), and rheumatoid arthritis (RA) [37, 38]. The ANA tests revealed a positive anti-dsDNA antibody and negative for other ANAs. Anti-dsDNA in ANA spectrum is a specific antibody for SLE, and the titer of anti-dsDNA tends to correlate with activity of disease [39]. However, the ANA test may produce a false-positive result, and ANAs are detected in 3 to 5% of healthy individuals or patients with other autoimmune or infectious diseases [39]. Hence, a positive anti-dsDNA alone is far from sufficient for diagnosis of SLE without systemic evaluation based on comprehensive clinical presentation, laboratory data, and other auxiliary examinations [39]. Traumatic cardiac aneurysm is irrelevant to this case because our patient has no history of trauma. Taken together, the clinical, echocardiographic, and imaging features of our case were in agreement with those described in the literature [3]. And the absence of clinical, laboratory, and imaging evidence of coronary artery disease, autoimmune connective tissue diseases, myocarditis, cardiomyopathies, or traumatic causes lends strong support to the diagnosis that the aneurysm occurred as a result of a congenital defect of the LV wall in the region of the LV apex.

We found a rare case combining both congenital LVA and prominent LV trabeculation in an adult. There have been concerns that excessive trabeculation may be a marker of underlying heart muscle disease [14]. For instance, LVNC is considered a distinct form of genetic cardiomyopathy in which the hallmark phenotypic feature is extensive LV trabeculation [15, 40]. Mutations in genes that encode various cardiac proteins have been identified as the cause of genetic cardiomyopathies [11]. And with recent advances in genomic technologies for more detailed evaluation of congenital heart diseases, genetic abnormalities linking the developmental defects in congenital heart disease have been increasingly identified [12]. Since congenital LVA presented with a typical phenotype in genetic cardiomyopathies, whether the same genetic background is shared within this rare combination is of interest. We then performed genetic tests aimed at five major genetic cardiomyopathies, including HCM, DCM, ARVC, RCM, and LVNC. The high-throughput sequencing tests showed a novel missense mutation located at c.C793>T in LDB3 gene, which was submitted to HGMD and dbSNP databases after the detection.

The LDB3 gene, also known as Z-band alternatively spliced PDZ motif (ZASP), encodes a PDZ-LIM domain-binding factor that plays an important role in maintaining the structural integrity of the striated muscle Z-disc in multiple species [41]. PDZ domain-containing proteins interact with each other in cytoskeletal assembly or with other proteins involved in targeting and clustering of membrane proteins. The ZASP protein is specifically expressed in heart and skeletal muscle [42]. Faulkner et al. [42] determined that the PDZ domain of ZASP binds to the COOH-terminal region of alpha-actinin-2 (ACTN2). Frey and Olson [43] showed that ZASP interacted strongly with three striated muscle-specific proteins (that is, calsarcin-1, calsarcin-2, and calsarcin-3). In addition, Lin et al. [41] found that the internal striated muscle ZASP-like motif (sZM) of the LDB3 protein interacted with the C terminus of human skeletal α-actin 1 (ACTA1), and exon 6 of LDB3 alone was sufficient for interaction with ACTA1. The long ZASP isoform lacking exon 10 also interacted with ACTA1, indicating an additional actin-binding region encoded by the exon 8–11 junction that is not present in the other isoforms. These findings together suggested that LDB3 gene is important for skeletal muscle structural integrity. Mutations in the LDB3 gene have been identified in some cardiomyopathies, such as DCM, HCM, and LVNC [44,45,46]. In this case, we found the mutation in LDB3 gene also presented with congenital LVA. Conceivably, the LDB3 gene mutation may be associated with the development of myocardial lesion in this patient. Despite the specific genetic finding, it does not in itself change the current diagnostic and therapeutic strategy for congenital LVA; however, the identification of genetic abnormality, when integrated with the clinical characteristics, may influence the overall case assessment, and may appropriately impact the clinical recommendations in the setting of congenital LVA.


This case presents the phenotypic expression of two heart conditions, congenital LVA and prominent LV trabeculation, coexisting with LDB3 gene mutation, suggesting the same genetic background may be shared within congenital LVA and cardiomyopathies. However, a single case of such a rare combination with a single gene mutation does not strongly support the link. More evidence is still needed to elucidate the association of genetic variations and congenital LVA. Comprehensive diagnostic assessment may provide a better understanding of the genotype–phenotype correlation between these two heart conditions. Our finding may help cardiologists and medical scientists to gain new insights into the basic mechanisms leading to congenital LVA and abnormal cardiac trabeculation.



Alpha-actin 1




Antinuclear antibody


Arrhythmogenic right ventricular cardiomyopathy


Antistreptolysin O


Aspartate aminotransferase




MB isoenzyme of creatine kinase


Cardiac magnetic resonance


Coxsackievirus B


C-reactive protein


Computed tomography angiography


Single Nucleotide Polymorphism database


Dilated cardiomyopathy




Double-stranded DNA




Erythrocyte sedimentation rate




Hypertrophic cardiomyopathy


Human Gene Mutation Database


High-sensitive troponin I

LDB3 :

LIM domain binding 3


Lactate dehydrogenase


Low-density lipoprotein


Left ventricular


Left ventricular aneurysm


Left ventricular non-compaction


Mixed connective tissue disease


Rheumatoid arthritis


Restrictive cardiomyopathy


Systemic lupus erythematosus


Sjögren’s syndrome


Systemic scleroderma


Striated muscle ZASP-like motif


Z-band alternatively spliced PDZ motif


  1. Ohlow MA. Congenital left ventricular aneurysms and diverticula: definition, pathophysiology, clinical relevance and treatment. Cardiology. 2006;106:63–72.

    Article  PubMed  Google Scholar 

  2. Ohlow MA, Secknus MA, Geller JC, von Korn H, Lauer B. Prevalence and outcome of congenital left ventricular aneurysms and diverticula in an adult population. Cardiology. 2009;112:287–93.

    Article  PubMed  Google Scholar 

  3. Ohlow MA, von Korn H, Lauer B. Characteristics and outcome of congenital left ventricular aneurysm and diverticulum: Analysis of 809 cases published since 1816. Int J Cardiol. 2015;185:34–45.

    Article  PubMed  Google Scholar 

  4. Warembourg H, Pauchant M, Ducloux G, Delbecque H, Ketelers JY. [Congenital aneurysm of the left ventricle associated with ventricular septal defect]. Lille Médical Journal De La Faculté De Médecine Et De Pharmacie De Luniversité De Lille. 1974;19:12–7.

  5. Ohlow MA, Fuhrmann JT, Lauer B. Prevalence and spectrum of coronary artery anomalies in patients with an isolated congenital left ventricular aneurysm or diverticulum. Clin Cardiol. 2011;34:226–32.

    Article  PubMed  Google Scholar 

  6. Chang CH. Total correction of a syndrome consisting of left ventricular diverticulum, atrial septal defect, Tetralogy of Fallot and midline thoracoabdominal defect. Cardiovasc Dis. 1974;1:105–8.

    PubMed  PubMed Central  Google Scholar 

  7. Stahli BE, Gebhard C, Biaggi P, Klaassen S, Valsangiacomo Buechel E, Attenhofer Jost CH, Jenni R, Tanner FC, Greutmann M. Left ventricular non-compaction: prevalence in congenital heart disease. Int J Cardiol. 2013;167:2477–81.

    Article  PubMed  Google Scholar 

  8. Captur G, Lopes LR, Patel V, Li C, Bassett P, Syrris P, Sado DM, Maestrini V, Mohun TJ, McKenna WJ, et al. Abnormal cardiac formation in hypertrophic cardiomyopathy: fractal analysis of trabeculae and preclinical gene expression. Circ Cardiovasc Genet. 2014;7:241–8.

    Article  CAS  PubMed  Google Scholar 

  9. Marchal P, Lairez O, Cognet T, Chabbert V, Barrier P, Berry M, Mejean S, Roncalli J, Rousseau H, Carrie D, Galinier M. Relationship between left ventricular sphericity and trabeculation indexes in patients with dilated cardiomyopathy: a cardiac magnetic resonance study. Eur Heart J Cardiovasc Imaging. 2013;14:914–20.

    Article  PubMed  Google Scholar 

  10. Captur G, Syrris P, Obianyo C, Limongelli G, Moon JC. Formation and Malformation of Cardiac Trabeculae: Biological Basis, Clinical Significance, and Special Yield of Magnetic Resonance Imaging in Assessment. Can J Cardiol. 2015;31:1325–37.

    Article  PubMed  Google Scholar 

  11. Hershberger RE, Lindenfeld J, Mestroni L, Seidman CE, Taylor MR, Towbin JA, Heart Failure Society of A. Genetic evaluation of cardiomyopathy – a Heart Failure Society of America practice guideline. J Card Fail. 2009;15:83–97.

    Article  PubMed  Google Scholar 

  12. Yuan S, Zaidi S, Brueckner M. Congenital heart disease: emerging themes linking genetics and development. Curr Opin Genet Dev. 2013;23:352–9.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  13. Ohlow MA, Lauer B, Geller JC. Prevalence and spectrum of abnormal electrocardiograms in patients with an isolated congenital left ventricular aneurysm or diverticulum. Europace. 2009;11:1689–95.

    Article  PubMed  Google Scholar 

  14. Zemrak F, Ahlman MA, Captur G, Mohiddin SA, Kawel-Boehm N, Prince MR, Moon JC, Hundley WG, Lima JA, Bluemke DA, Petersen SE. The relationship of left ventricular trabeculation to ventricular function and structure over a 9.5-year follow-up: the MESA study. J Am Coll Cardiol. 2014;64:1971–80.

    Article  PubMed  PubMed Central  Google Scholar 

  15. Captur G, Nihoyannopoulos P. Left ventricular non-compaction: genetic heterogeneity, diagnosis and clinical course. Int J Cardiol. 2010;140:145–53.

    Article  PubMed  Google Scholar 

  16. Kawel N, Nacif M, Arai AE, Gomes AS, Hundley WG, Johnson WC, Prince MR, Stacey RB, Lima JA, Bluemke DA. Trabeculated (noncompacted) and compact myocardium in adults: the multi-ethnic study of atherosclerosis. Circ Cardiovasc Imaging. 2012;5:357–66.

    Article  PubMed  PubMed Central  Google Scholar 

  17. Boyd MT, Seward JB, Tajik AJ, Edwards WD. 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;9:323–6.

    Article  CAS  PubMed  Google Scholar 

  18. Gati S, Merghani A, Sharma S. Increased left ventricular trabeculation does not necessarily equate to left ventricular noncompaction in athletes. JAMA Intern Med. 2015;175:461–2.

    Article  PubMed  Google Scholar 

  19. Tikiz H, Atak R, Balbay Y, Genc Y, Kutuk E. Left ventricular aneurysm formation after anterior myocardial infarction: clinical and angiographic determinants in 809 patients. Int J Cardiol. 2002;82:7–14. discussion 14–16.

    Article  PubMed  Google Scholar 

  20. Frustaci A, Gentiloni N, Caldarulo M. Acute myocarditis and left ventricular aneurysm as presentations of systemic lupus erythematosus. Chest. 1996;109:282–4.

    Article  CAS  PubMed  Google Scholar 

  21. Pieroni M, Ferrante G, Crea F. Sawfish left ventricle: acute myocarditis presenting with left ventricular aneurysm. Eur Heart J. 2007;28:2567.

    Article  PubMed  Google Scholar 

  22. McNulty PH, Sun B, Naccarelli GV, Ettinger SM. Left ventricular aneurysm as a consequence of hypertrophic obstructive cardiomyopathy. Catheter Cardiovasc Interv. 2002;55:385–8.

    Article  PubMed  Google Scholar 

  23. Nishikawa H, Kasai A, Ono N, Unno M, Kakuta Y, Nishimura S, Nishiyama S, Nakanishi S, Seki A, Nakano T. Two cases of bi-ventricular dysplasia associated with ventricular tachycardia and familial occurrence of sudden death. J Cardiol. 1991;21:735–47.

    CAS  PubMed  Google Scholar 

  24. Haine SE, Paelinck BP, Vrints CJ. Post-traumatic focal true left ventricular aneurysm. Heart. 2004;90:1009.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  25. Frustaci A, Chimenti C, Pieroni M. Prognostic significance of left ventricular aneurysms with normal global function caused by myocarditis. Chest. 2000;118:1696–702.

    Article  CAS  PubMed  Google Scholar 

  26. Calabrese F, Thiene G. Myocarditis and inflammatory cardiomyopathy: microbiological and molecular biological aspects. Cardiovasc Res. 2003;60:11–25.

    Article  CAS  PubMed  Google Scholar 

  27. Fu J, Yuan Y, Sun LP, Cui XD. Relation between acute respiratory infection and enterovirus in children in Beijing area. Zhonghua Shi Yan He Lin Chuang Bing Du Xue Za Zhi. 2007;21:316–8.

    CAS  PubMed  Google Scholar 

  28. Lu QB, Wo Y, Wang HY, Wei MT, Zhang L, Yang H, Liu EM, Li TY, Zhao ZT, Liu W, Cao WC. Detection of enterovirus 68 as one of the commonest types of enterovirus found in patients with acute respiratory tract infection in China. J Med Microbiol. 2014;63:408–14.

    Article  PubMed  Google Scholar 

  29. Cinek O, Tapia G, Witso E, Kramna L, Holkova K, Rasmussen T, Stene LC, Ronningen KS. Enterovirus RNA in peripheral blood may be associated with the variants of rs1990760, a common type 1 diabetes associated polymorphism in IFIH1. PLoS One. 2012;7:e48409.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  30. Craig ME, Howard NJ, Silink M, Rawlinson WD. Reduced frequency of HLA DRB1*03-DQB1*02 in children with type 1 diabetes associated with enterovirus RNA. J Infect Dis. 2003;187:1562–70.

    Article  CAS  PubMed  Google Scholar 

  31. Mahfoud F, Gartner B, Kindermann M, Ukena C, Gadomski K, Klingel K, Kandolf R, Bohm M, Kindermann I. Virus serology in patients with suspected myocarditis: utility or futility? Eur Heart J. 2011;32:897–903.

    Article  CAS  PubMed  Google Scholar 

  32. Friedrich MG, Sechtem U, Schulz-Menger J, Holmvang G, Alakija P, Cooper LT, White JA, Abdel-Aty H, Gutberlet M, Prasad S, et al. Cardiovascular magnetic resonance in myocarditis: A JACC White Paper. J Am Coll Cardiol. 2009;53:1475–87.

    Article  PubMed  PubMed Central  Google Scholar 

  33. Lv S, Rong J, Ren S, Wu M, Li M, Zhu Y, Zhang J. Epidemiology and diagnosis of viral myocarditis. Hellenic J Cardiol. 2013;54:382–91.

    PubMed  Google Scholar 

  34. Group on the countermeasures of myocarditis and cardiomyopathy of Editorial Committee of Chinese Journal of Cardiology. About the diagnostic reference standard of adult acute viral myocarditis and adopt the suggestion for definition and classification of cardiomyopathy from the World Health Organization and the International Federation of Society of Cardiology Working Group. Chin J Cardiol. 1999;27:405–7.

    Google Scholar 

  35. Elliott PM, Anastasakis A, Borger MA, Borggrefe M, Cecchi F, Charron P, Hagege AA, Lafont A, Limongelli G, Mahrholdt H, et al. ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J. 2014;2014(35):2733–79.

    Google Scholar 

  36. Marcus FI, McKenna WJ, Sherrill D, Basso C, Bauce B, Bluemke DA, Calkins H, Corrado D, Cox MG, Daubert JP, et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria. Circulation. 2010;121:1533–41.

    Article  PubMed  PubMed Central  Google Scholar 

  37. Self SE. Autoantibody testing for autoimmune disease. Clin Chest Med. 2010;31:415–22.

    Article  PubMed  Google Scholar 

  38. Xu YH, Gu YY, Yang HT. A study of anti-D’E polypeptide in the diagnosis of mixed connective tissue disease. Zhonghua Nei Ke Za Zhi. 1993;32:525–7.

    CAS  PubMed  Google Scholar 

  39. Kiriakidou M, Cotton D, Taichman D, Williams S. Systemic lupus erythematosus. Ann Intern Med. 2013;159:ITC4–1.

    Article  PubMed  Google Scholar 

  40. Oechslin EN, Attenhofer JCH, Rojas JR, Kaufmann PA, Jenni R. 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.

    Article  CAS  PubMed  Google Scholar 

  41. Lin X, Ruiz J, Bajraktari I, Ohman R, Banerjee S, Gribble K, Kaufman JD, Wingfield PT, Griggs RC, Fischbeck KH. Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathy. J Biol Chem. 2014;289:13615.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  42. Faulkner G, Pallavicini A, Formentin E, Comelli A, Ievolella C, Trevisan S, Bortoletto G, Scannapieco P, Salamon M, Mouly V. ZASP: a new Z-band alternatively spliced PDZ-motif protein. J Cell Biol. 1999;146:465–75.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  43. Frey N, Olson EN. Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins. J Biol Chem. 2002;277:13998.

    Article  CAS  PubMed  Google Scholar 

  44. Online Mendelian Inheritance in Man. An Online Catalog of Human Genes and Genetic Disorders. Accessed 3 Feb 2017.

  45. Vatta M, Mohapatra B, Jimenez S, Sanchez X, Faulkner G, Perles Z, Sinagra G, Lin JH, Vu TM, Zhou Q. Mutations in Cypher/ZASP in Patients with Dilated Cardiomyopathy and Left Ventricular Non-Compaction. J Am Coll Cardiol. 2003;42:2014–27.

    Article  CAS  PubMed  Google Scholar 

  46. Theis JL, Bos JM, Bartleson VB, Will ML, Binder J, Vatta M, Towbin JA, Gersh BJ, Ommen SR, Ackerman MJ. Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy. Biochem Biophys Res Commun. 2006;351:896–902.

    Article  CAS  PubMed  Google Scholar 

Download references


We thank the patient for participating in this work. The authors are grateful to Dr Lei Jiang (Department of Geriatrics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology) for critical review of this work.


This study was supported by National Natural Science Foundation of China (Grants:81370468 and 81671386).

Availability of data and materials

The datasets used and analyzed during the current study are available from the corresponding author on reasonable request.

Author information

Authors and Affiliations



XH and LH collected clinical data. SS and MW analyzed and interpreted the patient data regarding the heart disease. SS and CL were major contributors in writing the manuscript. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Chengyun Liu.

Ethics declarations

Ethics approval and consent to participate

This study was approved by the ethics committee of Tongji Medical College, Huazhong University of Science and Technology and conducted in accordance with the Declaration of Helsinki.

Consent for publication

Written informed consent was obtained from the patient for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.

Competing interests

The authors declare that they have no competing interests.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (, which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated.

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Shan, S., He, X., He, L. et al. Coexistence of congenital left ventricular aneurysm and prominent left ventricular trabeculation in a patient with LDB3 mutation: a case report. J Med Case Reports 11, 229 (2017).

Download citation

  • Received:

  • Accepted:

  • Published:

  • DOI: