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Noncompaction of the Right Ventricle

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Giovanni Fazio at PALERMO
Giovanni Fazio
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Monica Lunetta
Monica Lunetta
Monica Lunetta
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Grassedonio Emanuele at University of Palermo
Grassedonio Emanuele
Alessandro Gullotti
Alessandro Gullotti
Alessandro Gullotti
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LETTER TO THE EDITOR
Noncompaction of the Right Ventricle
Giovanni Fazio •Monica Lunetta •Emanuele Grassedonio •Alessandro Gullotti •
Giovani Ferro •Daniela Bacarella •Giuseppe Lo Re •Giuseppina Novo •
Midiri Massimo •Emiliano Maresi •Salvatore Novo
Published online: 13 February 2010
ÓSpringer Science+Business Media, LLC 2010
Noncompaction of the ventricular myocardium is a disease
characterized by an increase of the ventricular trabecular
meshwork caused by arrest of the normal endomyocardial
morphogenesis (Figs. 1,2,3).
In accordance with the normal human anatomy, the left
ventricular wall is well compacted with a few thin tra-
beculae; on the contrary, the normal right ventricular wall
is furrowed by many trabeculae (the trabecula of the
marginal septum as well as other ones). For this reason, the
term ‘‘noncompaction’’ usually refers to an exclusive or
prevalent disease of the left ventricle [1–16]. Recently
Song and Aragona et al. [1–3] reported two cases of iso-
lated right-ventricular noncompaction. According to the
data coming from scientific literature and from our own
experience, in some patients noncompaction is biventric-
ular [5,6], and an increase of the right ventricular mesh-
work is often evident in such cases, even more so than on
the left side.
The main diagnostic criterion of noncompaction, that is,
the only one that is accepted and recognized, is evaluation
of the ratio between the spongiosus and the compact
thickness of the ventricular wall, which must be [2[6–16].
This ratio is easy to calculate for the left ventricle; on the
contrary, it is more difficult to calculate for the right ven-
tricle. Only one case of right-ventricular noncompaction
has been reported in the literature [7,8].
In our personal clinical experience, we have found that
many cases of biventricular noncompaction are reported in
the register of Italian Society of Cardiovascular Echocar-
diography. Recently two patients with an inexplicable
dilatation of the right ventricle caught our attention: Both
of them showed a more prominent trabecular meshwork on
G. Fazio (&)M. Lunetta E. Grassedonio A. Gullotti
G. Ferro D. Bacarella G. L. Re G. Novo M. Massimo
E. Maresi S. Novo
Department of Cardiology, University of Palermo,
Via Albiri 3 a, 90125 Palermo, Italy
e-mail: giovanni.fazio-aaaa@poste.it
G. Fazio M. Lunetta E. Grassedonio A. Gullotti G. Ferro
D. Bacarella G. L. Re G. Novo M. Massimo
E. Maresi S. Novo
Department of Radiology, University of Palermo,
Via Albiri 3 a, 90125 Palermo, Italy
Fig. 1 Four-chamber view of isolated noncompaction in the first
patient. Note the normal compaction of the left ventricle
123
Pediatr Cardiol (2010) 31:576–578
DOI 10.1007/s00246-010-9652-6
the right ventricle, and this was more stressed in particular
areas of the same ventricle. The spongious-to-compact
ratio measured in the more trabecular areas was consis-
tently [3. The right ventricular volume was increased. One
of these patients had complex ventricular extrasystoles, and
magnetic resonance imaging confirmed the presence of
prominent trabecular meshwork on the right ventricle and
its dilatation. The second patient, a 3-year-old child sud-
denly and unexplainable died. A third patient, who
underwent repair of tetralogy of Fallot, showed an isolated
abnormal dilatation of the right ventricle.
What should be done in circumstances like these?
Should a diagnosis of isolated noncompaction of the right
ventricle be made, or should this aspect be described as an
accentuated trabecular meshwork? In contrast, in two of the
three cases previously described the increase of the tra-
becular meshwork was associated with major adverse
cardiac events, e.g., complex ventricular arrhythmias and
sudden death.
Our opinion is that a diagnosis of isolated noncompac-
tion of the right ventricle should be made only when
accentuation of the trabecular meshwork is present in
certain areas (while in others spongious-to-compact ratio
is \2) and it is associated with dilatation of the right
ventricle.
References
1. Song ZZ (2009) A combination of right ventricular hyper-
trabeculation/noncompaction and atrial septal defect. Int J Car-
diol (in press)
2. Song ZZ (2009) A possible diagnosis of isolated right ventricular
hypertrabeculation/noncompaction in an elderly man by three-
dimensional echocardiography. Int J Cardiol (in press)
3. Aragona P, Badano LP, Pacileo G, Pino GP, Sinagra G, Zachara
E (2005) Isolated left ventricular non-compaction. Ital Heart J
6(Suppl):649–659
4. Chen SJ, Lee WJ, Lin MT (2008) Left ventricular non-compac-
tion in an infant. Heart 94:295–296
5. Shirahama M, Yamano M, Kawasaki T, Nanno S, Akakabe Y,
Miki S et al (2007) Biventricular non-compaction detected by
magnetic resonance imaging: a case report. J Cardiol 50:149–154
Fig. 3 Magnetic resonance characterization of the heart of the child
affected by noncompaction and sudden death. Note the many
prominent trabeculae
Fig. 2 Magnetic resonance characterization of the isolated noncom-
paction areas in the second patient. The noncompaction was confined
to the right lateral wall
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123
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9. Fazio G, Visconti C, D’Angelo L, Novo G, Novo S (2008)
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Grassedonio E et al (2007) Left ventricular non-compaction
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`S, Mongiovı
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failure is not so frequent in non-compaction. Eur Heart J 28:1269
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et al (2007) Supraventricular arrhythmias in noncompaction of
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et al (2007) Ventricular tachycardia in noncompaction of left
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et al (2007) Heart failure and cardiomyopathies: a case report. G
Ital Cardiol 8:129–132
578 Pediatr Cardiol (2010) 31:576–578
123
... In the published literature, most of the ultrasonic diagnostic criteria of right ventricular NCCM are based on the left ventricle; however, the right ventricle has more trabeculae, and its anatomical and morphological characteristics increase the difficulty of diagnosis of right ventricular NCCM. Fazio et al. (11) reported that the key to diagnosis of right ventricular NCCM is a significant increase of trabeculae in the right ventricle accompanied by dilation of this ventricle. The abnormal manifestations of the fetal right ventricle in the present case included a thin compacted layer, deep intertrabecular space, and dilated right ventricle. ...
... The abnormal manifestations of the fetal right ventricle in the present case included a thin compacted layer, deep intertrabecular space, and dilated right ventricle. As noted by Fazio et al. (11), we consider that increased trabeculae within and enlargement of the right ventricle are the most important abnormalities for the diagnosis of fetal right ventricular NCCM and can provide instructive information for prenatal counseling. NCCM in children and adults is always accompanied by arrhythmia. ...
Case report: Prenatal diagnosis of fetal non-compaction cardiomyopathy with bradycardia accompanied by de novo CALM2 mutation
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We herein report what appears to be the first case of fetal non-compaction cardiomyopathy in both ventricles accompanied by a mutation in the calmodulin gene (CALM2). A 25-year-old woman was referred to our hospital at 25+1 weeks of gestation for evaluation of fetal defects. Prenatal echocardiography showed biventricular non-compaction cardiomyopathy with sinus bradycardia. After termination of the pregnancy, fetal biventricular non-compaction cardiomyopathy was confirmed by autopsy and histopathologic examination. Additionally, whole-exome sequencing of genomic DNA demonstrated a de novo heterozygous mutation (c.389A > G; p.D130G) in CALM2, whereas the parents were normal. In this case report, we highlight the importance of prenatal ultrasound and genetic testing in fetal non-compaction cardiomyopathy with arrhythmia.
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... Для разрешения существующих противоречий предлагаются косвенные критерии патологического характера повышенной трабекулярности ПЖ. В частности, указывается, что признаком патологической некомпактности миокарда ПЖ необходимо признать его дилатацию [11,33]. Отмечается важность распространения трабекулярности по латеральной стенке ПЖ с поражением трикуспидального клапана в тяжелых случаях [32]. ...
... ЭхоКГи МРТ-оценка анатомии и функции ПЖ Дилатация и снижение ФВ ПЖ* [11,33]. Снижение функции пораженных сегментов [25] Индекс КДО>100-110 мл/м 2 ; выходной тракт ПЖ>32-36 мм; ФВ ПЖ<40-45% [19,40]. ...
Non-compact right ventricular myocardium – diagnostic and clinical features: A review
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Non-compact right ventricular myocardium is a rare type of cardiomyopathy, it usually results from arrested myocardial development during embryogenesis. This disease can be characterized by excessive prominent trabeculations and deep inter-trabecular recesses in the ventricular wall. It might be a component of biventricular non-compact cardiomyopathy or an isolated form. The article presents a review of the literature on the clinic and radiation diagnostics of non-compact right ventricular myocardium with the presentation of the issues of differential diagnosis.
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... Compared with those of the left ventricle (LV), the unique shape of the RV and its physiologically greater quantity of endocardial trabeculae make it difficult to evaluate RV hypertrabeculation. Despite the lack of established diagnostic criteria, case reports suggest the existence of isolated RV non-compaction (1)(2)(3). The negative relationship between LV trabeculation and LV ejection fraction (EF) has prompted questions about whether RV trabeculation is similarly associated with RV function, which has been shown to be an important prognostic parameter in several cardiac diseases, including LVNC (4)(5)(6)(7). ...
... Case reports and previous studies have described the presence of complex ventricular extrasystoles, ventricular tachycardia, and sudden cardiac death in patients with RV non-compaction and some authors have suggested that RV non-compaction is an arrhythmogenic state associated with high mortality (1,2,30). However, these patients had either RV dysfunction or congenital cardiac abnormalities that affected the right heart. ...
Impact of Right Ventricular Trabeculation on Right Ventricular Function in Patients With Left Ventricular Non-compaction Phenotype
Article
Full-text available
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Right ventricular (RV) involvement in left ventricular (LV) non-compaction (LVNC) remains unknown. We aimed to describe the RV volumetric, functional, and strain characteristics and clinical features of patients with LVNC phenotype and good LV ejection fraction (EF) using cardiac magnetic resonance to characterize RV trabeculation in LVNC and to study the relationships of RV and LV trabeculation with RV volume and function. This retrospective study included 100 Caucasian patients with LVNC phenotype and good LV-EF and 100 age- and sex-matched healthy controls. Patients were further divided into two subgroups according to RV indexed trabecular mass [RV-TMi; patients with RV hypertrabeculation (RV-HT) vs. patients with normal RV trabeculation (RV-NT)]. We measured the LV and RV volumetric, functional, and TMi values using threshold-based postprocessing software and the RV and LV strain values using feature tracking and collected the patients' LVNC-related clinical features. Patients had higher RV volumes, lower RV-EF, and worse RV strain values than controls. A total of 22% of patients had RV-TMi values above the reference range; furthermore, RV-HT patients had higher RV and LV volumes, lower RV- and LV-EF, and worse RV strain values than RV-NT patients. We identified a strong positive correlation between RV- and LV-TMi and between RV-TMi and RV volumes and a significant inverse relationship of both RV- and LV-TMi with RV function. The prevalence of LVNC-related clinical features was similar in the RV-HT and RV-NT groups. These results suggest that some patients with LVNC phenotype might have RV non-compaction with subclinical RV dysfunction and without more severe clinical features.
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... This ratio is easy to calculate for the left ventricle; on the contrary, it is more difficult to calculate for the right ventricle. [7] Our patient demonstrated a 4.33:1 noncompacted to compacted layer ratio of the right ventricular myocardium. ...
Isolated Non-Compacted Right Ventricular Myocardium with Severe Pulmonary Hypertension
Article
Full-text available
  • Jun 2014
Background There have been only at least seven cases of isolated right ventricular non-compaction reported in literature, hence, there are no definite criteria for diagnosis and recommendations for management of these patients. The reported clinical manifestations include heart failure, arrhythmias and cardioembolic events. Left ventricular and biventricular non-compaction are likewise rare but more common than isolated right ventricular non-compaction. Pulmonary hypertension is associated with biventricular non-compaction more commonly but not with isolated right ventricular non-compaction. Setting University of Santo Tomas Hospital Case report We report a case of a 25 year old female who presented with progressive dyspnea for one year accompanied by easy fatigability. She denied chest pain, palpitations, pedal edema, paroxysmal nocturnal dyspnea and orthopnea. She had a brother who died at a young age reportedly due to a cardiac illness which was not fully worked-up. Her 2D echocardiogram showed excessive prominent trabeculations and deep inter-trabecular recesses in the right ventricular wall with depressed right ventricular systolic function by tricuspid annular plane systolic excursion and fractional area change. Color Doppler studies also showed severe tricuspid regurgitation, pulmonic regurgitation and severe pulmonary hypertension. Secondary causes of pulmonary hypertension like connective tissue diseases, left heart disease, chronic thrombotic/embolic disease, anomalous cardiac and pulmonary shunts and lung disease were excluded. She was given diltiazem, sildenafil, digoxin, warfarin overlapped with subcutaneous enoxaparin and oxygen supplementation which provided symptomatic relief.
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... Left ventricular noncompaction mainly affects the LV, but isolated right ventricular or biventricular noncompaction has also been reported. [1][2][3][4][5] Left ventricular noncompaction can be asymptomatic, but patients with LVNC are at high risk of developing heart failure and sudden death. 6 Genetic screening of individual patients with LVNC has identified mutations in genes encoding transcription factors, sarcomere, nuclear membrane, RNA-binding proteins, and ion channel proteins 7-10 ; however, a significant portion of LVNC cases are of unknown etiology. ...
Missense Mutation in Human CHD4 Causes Ventricular Noncompaction by Repressing ADAMTS1
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Full-text available
  • May 2023
  • CIRC RES
Background: Left ventricular noncompaction (LVNC) is a prevalent cardiomyopathy associated with excessive trabeculation and thin compact myocardium. Patients with LVNC are vulnerable to cardiac dysfunction and at high risk of sudden death. Although sporadic and inherited mutations in cardiac genes are implicated in LVNC, understanding of the mechanisms responsible for human LVNC is limited. Methods: We screened the complete exome sequence database of the Pediatrics Cardiac Genomics Consortium and identified a cohort with a de novo CHD4 (chromodomain helicase DNA-binding protein 4) proband, CHD4M202I, with congenital heart defects. We engineered a humanized mouse model of CHD4M202I (mouse CHD4M195I). Histological analysis, immunohistochemistry, flow cytometry, transmission electron microscopy, and echocardiography were used to analyze cardiac anatomy and function. Ex vivo culture, immunopurification coupled with mass spectrometry, transcriptional profiling, and chromatin immunoprecipitation were performed to deduce the mechanism of CHD4M195I-mediated ventricular wall defects. Results: CHD4M195I/M195I mice developed biventricular hypertrabeculation and noncompaction and died at birth. Proliferation of cardiomyocytes was significantly increased in CHD4M195I hearts, and the excessive trabeculation was associated with accumulation of ECM (extracellular matrix) proteins and a reduction of ADAMTS1 (ADAM metallopeptidase with thrombospondin type 1 motif 1), an ECM protease. We rescued the hyperproliferation and hypertrabeculation defects in CHD4M195I hearts by administration of ADAMTS1. Mechanistically, the CHD4M195I protein showed augmented affinity to endocardial BRG1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 4). This enhanced affinity resulted in the failure of derepression of Adamts1 transcription such that ADAMTS1-mediated trabeculation termination was impaired. Conclusions: Our study reveals how a single mutation in the chromatin remodeler CHD4, in mice or humans, modulates ventricular chamber maturation and that cardiac defects associated with the missense mutation CHD4M195I can be attenuated by the administration of ADAMTS1.
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... Right ventricular involvement in LVNC is poorly studied due to difficulty in differentiating the normal RV trabeculations from the pathological trabeculations [9]. However, dilatation of the right ventricle in addition to the hypertrabeculation can be considered for the diagnosis [10]. ...
Unusual presentations of ‘‘left ventricular non compaction’’- A rare form of cardiomyopathy
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Left ventricular non-compaction is an overall rare form of non-ischemic cardiomyopathy. The true prevalence of left ventricular non compaction (LVNC) is unclear, but it has been reported in 0.014–0.05% of adults and even less in paediatric population [1]. We present the case series of the patients who presented with varied clinical presentation and diagnosed to have left ventricular non-compaction on imaging. We have reviewed the literature regarding diagnostic imaging criteria and imaging pitfalls of this condition.
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... La MCNC, también denominada no compactación del ventrículo izquierdo (VI) o hipertrabeculación del VI es una forma infrecuente y heterogénea de MCP en niños que compromete principalmente al VI, pero que en ocasiones puede afectar ambos ventrículos e incluso sólo al ventrículo derecho (VD) 2,8 . ...
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Background Left ventricular noncompaction (LVNC) is a hereditary type of cardiomyopathy characterized by prominent trabeculations. Detailed characteristics of biventricular noncompaction (BiVNC) remain unknown. This study aimed to elucidate the clinical characteristics and genetic landscape of BiVNC. Methods and Results We recruited children with left ventricular noncompaction from Japanese multi‐institutional centers from 2013 to 2021. Left ventricular noncompaction was classified as BiVNC, congenital heart disease, arrhythmia, dilated cardiomyopathy, or normal function. In these patients, cardiomyopathy‐associated genes were screened. A total of 234 patients (127 male; mean age, 4 months [range, 0–6.6 years]) were enrolled in this study, of whom 25 had BiVNC; 55, normal function; 84, dilated cardiomyopathy; 38, congenital heart disease; and 32, arrhythmia. BiVNC was diagnosed during the perinatal period in 10 patients, in whom the prevalence was higher than that in other patients. A total of 14 patients in the group with BiVNC had congenital heart disease, but not necessarily right heart lesions. Left ventricular dyskinesis was frequently observed in the lateral wall (24%) and apex (28%). Eleven pathogenic variants were found in 11 patients with BiVNC (44.0%). The group with BiVNC had a higher ratio of mitochondrial and developmental gene variants than the other groups. Among all groups, the group with BiVNC had the worst survival rate ( P =0.0009). Conclusions Pediatric patients with BiVNC had a high rate of ventricular dyskinesis and poor outcome. A comprehensive and careful screening for disease‐causing genes and phenotype may help identify specific patients with left ventricular noncompaction and mortality‐related cardiac phenotypes.
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Prenatal Diagnosis of Isolated Right Ventricular Non-Compaction Cardiomyopathy with an MYH7 Likely Pathogenic Variant
Article
  • Jan 2023
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Background: Noncompaction of ventricular myocardium is a cardiomyopathy that typically involves the left ventricle or both ventricles; it has often been associated with mutations in genes encoding sarcomere proteins. Little is known about isolated right ventricular noncompaction, as only a few cases have been reported. Case Report: A 30 year old G2P1 woman experienced a spontaneous fetal loss at 19 weeks and 4 days. An ultrasound examination at 19 weeks showed right ventricular and tricuspid valve abnormalities, ascites, and early hydrops. At autopsy, the right ventricular chamber was dilated with numerous prominent trabeculations and deep intrabecular recesses as well as a dysplastic tricuspid valve. Histologic examination confirmed isolated right ventricular noncompaction. Whole exome sequencing showed a likely pathogenic variant in the MYH7 gene. Conclusions: This appears to be the first report of isolated right ventricular noncompaction associated with a gene mutation as well as the first diagnosis in a fetus.
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A Missense Mutation in Human CHD4 Causes Ventricular Noncompaction by Repressing ADAMTS1-mediated Trabeculation Cessation
Preprint
Full-text available
  • Sep 2022
BACKGROUND: Left ventricular noncompaction (LVNC) is a prevalent cardiomyopathy associated with excessive trabeculation and thin compact myocardium. Patients with LVNC are vulnerable to cardiac dysfunction and at high risk of sudden death. Although sporadic and inherited mutations in cardiac genes are implicated in LVNC, understanding of the mechanisms responsible for human LVNC is limited. METHODS: We screened the complete exome sequence database of the Pediatrics Cardiac Genomics Consortium and identified a cohort with a de novo chromodomain helicase DNA-binding protein 4 (CHD4) proband, CHD4M202I, with congenital heart defects. We engineered a patient-specific model of CHD4M202I (mouse CHD4M195I). Histological analysis, immunohistochemistry, flow cytometry, transmission electron microscopy, and echocardiography were used to analyze cardiac anatomy and function. Ex vivo culture, immunopurification coupled with mass spectrometry, transcriptional profiling, and chromatin immunoprecipitation were performed to deduce the mechanism of CHD4M195I-mediated ventricular wall defects. RESULTS: CHD4M195I/M195I mice developed biventricular hypertrabeculaion and noncompaction and died at birth. Proliferation of cardiomyocytes was significantly increased in CHD4M195I hearts, and the excessive trabeculation was associated with accumulation of extracellular matrix (ECM) proteins and a reduction of ADAMTS1, an ECM protease. We rescued the hyperproliferation and hypertrabeculation defects in CHD4M195I hearts by administration of ADAMTS1. Mechanistically, the CHD4M195I protein showed augmented affinity to endocardial BRG1. This enhanced affinity resulted in failure of derepression of Adamts1 transcription such that ADAMTS1-mediated trabeculation termination was impaired. CONCLUSIONS: Our study reveals how a single mutation in the chromatin remodeler CHD4, in mice or humans, modulates ventricular chamber maturation and that cardiac defects associated with the missense mutation CHD4M195I can be attenuated by the administration of ADAMTS1.
View
Left ventricular non-compaction in an infant
Article
Full-text available
  • Feb 2009
This 49-day-old term male baby was born to a healthy mother by normal spontaneous delivery weighing 3260 g. Tachypnoea with subcostal retraction, gasping, general malaise, and poor appetite were noted from the age of 14 days. Echocardiography revealed hypertrophic cardiomyopathy with systolic dysfunction. The left ventricular ejection fraction was 35%. He had no familial history of cardiovascular disease. Contrast enhanced cardiac computed tomography (LightSpeed VCT, General Electric Medical Systems, Milwaukee, Wisconsin, USA) revealed severe thickening of the myocardium with prominent trabeculations and deep intertrabecular recesses throughout the left ventricular walls (panel A). The thickness of the compacted layer was 22% of the left ventricular lateral wall. Virtual cardioscopy (Advantage Windows 4.3; General Electric Medical Systems, Paris, France) along the axis from the mitral inlet through to the LV apex well demonstrated the interlaced myocardial bundles in the septal, apical and lateral walls of the left ventricle (panel B; movies 1 and 2). 2). Panel A Axial image of computed tomography showing prominent trabeculations and deep intertrabecular recesses throughout the left ventricle (LV). The diagram in the left upper corner represents the comparatively typical myocardial compaction of the LV in a 60-day-old ... Panel B Virtual cardioscopic view from left ventricular inlet towards the left ventricular apex demonstrating prominent interlaced myocardial bundles throughout the left ventricle. The comparative diagram in the left upper corner shows the significantly reduced ...
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Non-compacted cardiomyopathy: Clinical-echocardiographic study
Article
Full-text available
  • Feb 2006
  • Cardiovasc Ultrasound
The aim of the present study was to describe the clinical and echocardiographic findings of ventricular noncompaction in adult patients. Fifty-three patients underwent complete clinical history, electrocardiogram, Holter and transthoracic echocardiogram. Forty patients (75%) were in class I/II of the New York Heart Association, and 13 (25%) in class III/IV. Ventricular and supraventricular escape beats were found in 40% and 26.4%, respectively. Holter showed premature ventricular contractions in 32% and sustained ventricular tachycardia in 7.5%. Ventricular noncompaction was an isolated finding in 74% of cases and was associated with other congenital heart disease in 26%. Noncompacted ventricular myocardium involved only left ventricle in 62% of the patients and both ventricles in 38%. The mean ratio of noncompacted to compacted myocardial layers at the site of maximal wall thickness was 3.4 ± 0.87 mm (range 2.2–7.5). The presence of ventricular noncompaction in more than three segments was associated with a functional class greater than II and ventricular arrhythmia with demonstrable statistical significance by χ2(p < 0.003). Conclusion a) Noncompacted cardiomyopathy is a congenital pathological entity that can occur in isolated form or associated with other heart disease and often involves both ventricles. b) A ratio of noncompacted to compacted myocardium greater than 3 and involvement of three or more segments are indicators of poor prognosis. c) Since the clinical manifestations are not sufficient to establish diagnosis, echocardiography is the diagnostic tool that makes it possible to document ventricular noncompaction and establish prognostic factors.
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Heart failure and cardiomyopathies: A case report
Article
  • Feb 2007
Isolated noncompaction of left ventricular myocardium is a rare congenital heart disease, characterized by an excessive prominence of trabecular meshwork, spaced out by deep intertrabecular recesses, consequent to the arrest of the normal myocardial embryogenesis. Although there are numerous descriptions, the pathophysiological effects of the structural alterations, like the clinical spectrum and the evolution of the disease, are not fully clarified. In this paper we evaluated the natural history of the disease, the family incidence and the alterations of the systolic and diastolic function. An interesting case report is described concerning a patient affected by noncompaction and atrial fibrillation.
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A combination of right ventricular hypertrabeculation/noncompaction and atrial septal defect
Article
  • Mar 2009
The patient was a 39-year-old man admitted with iterative severe chest distress and breathlessness associated with activity without chest complaint for eight years. In past, he was found to have cardiac murmur and was diagnosed congenital ASD at the time of his 25-year-old. Transthoracic two-dimensional echocardiography showed prominent trabeculations of right ventricle (Fig. 1). The right ventricular and atrium was dilated, right ventricular were hypokinetic and right ventricular function was impaired with an right ventricular area changes fraction of 26%. The left ventricular was not markedly dilated and its function was normal with a left ventricular ejection fraction of 63%. Long-term ASD results in right heart volume overload. Neuroendocrine adaptations also occur, with increased sympathetic activity and circulating catecholamines that result in increased contractility and heart rate. Shorter diastolic time due to tachycardia, increased intramyocardial tension from right ventricular dilatation, and increased myocardial oxygen demand, may result in subendocardial ischemia. The present case, therefore, could be regarded as acquired right ventricular HVM/NVM.
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A possible diagnosis of isolated right ventricular hypertrabeculation/noncompaction in an elderly man by three-dimensional echocardiography
Article
  • Feb 2009
A 88 year-old man admitted with iterative severe chest distress and breathlessness associated with activity without chest complaint for 5 years. He underwent an initial 2DE that did not confirm HVM/NVM and 3DE that strengthened the diagnosis of HVM/NVM. In contrast to 2DE, 3DE provides for pyramid-shaped datasets that encompass the entire right ventricular. Specifically, right ventricular can be sectioned in user selected planes and an unlimited number and angles of such planes can be used. The present case should be regarded as isolated right ventricular HVM/NVM because there were no any factors that could explain the arrest of the development of the myocardial structure.
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Isolated noncompaction of left ventricular myocardium. A study of eight cases
Article
  • Sep 1990
Isolated noncompaction of left ventricular myocardium is a rare disorder of endomyocardial morphogenesis characterized by numerous, excessively prominent ventricular trabeculations and deep intertrabecular recesses. This study comprised eight cases, including three at necropsy. Ages ranged from 11 months to 22.5 years, with follow-up as long as 5 years. Gross morphological severity ranged from moderately abnormal ventricular trabeculations to profoundly abnormal, loosely compacted trabeculations. Echocardiographic images were diagnostic and corresponded to the morphological appearances at necropsy. The depths of the intertrabecular recesses were assessed by a quantitative echocardiographic X-to-Y ratio and were significantly greater than in normal control subjects (p less than 0.001). Clinical manifestations of the disorder included depressed left ventricular systolic function in five patients, ventricular arrhythmias in five, systemic embolization in three, distinctive facial dysmorphism in three, and familial recurrence in four patients. We conclude that isolated noncompaction of left ventricular myocardium is a rare if not unique disorder with characteristic morphological features that can be identified by two-dimensional echocardiography. The incidence of cardiovascular complications is high. The disorder may be associated with facial dysmorphism and familial recurrence.
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Isolated left ventricular non-compaction
Article
  • Nov 2005
Isolated left ventricular noncompaction is a genetically heterogeneous congenital disorder characterized by an altered structure of the myocardial wall. This cardiomyopathy is thought to be due to an arrest of intrauterine compaction of the myocardial fibers in the absence of any other structural heart disease. Noncompaction of the left ventricular myocardium is an uncommon finding and remains frequently overlooked even by experienced echocardiographers. However, a correct diagnosis of noncompaction has important implications due to the possible association with other cardiac abnormalities and/or muscle disorders, progressive left ventricular dysfunction, risk of thromboembolism, and life-threatening arrhythmias. Furthermore, because of the familial association described with ventricular noncompaction, screening with echocardiography of first relatives is recommended. Since echocardiography is the diagnostic technique of choice, missed diagnoses may be due to nonoptimal imaging of the lateral and apical myocardium, and/or insufficient disease awareness by echocardiographers. To increase awareness of left ventricular noncompaction, the present paper reviews embryology, genetics, clinical features and pathophysiology, diagnosis, treatment and prognosis of patients affected by isolated left ventricular noncompaction.
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Evaluation of diastolic function by the Tissue doppler in children affected by non-compaction
Article
  • Apr 2007
The Tissue doppler analysis is a new echocardiographic approach to evaluate the diastolic function. In this report we performed a Tissue doppler analysis in a series of 15 children affected by non-compaction. The bidimensional echo-cardiogram showed a systolic function which was reduced only in 8 patients. Alterations of the diastolic function were founded in 7 patients: in 2 cases, a reduction of the E tissue wave was present in all segments. In 3 patients the diastolic dysfunction was limited to apical and lateral segments. In the last 2 children a reduction of the E wave interested only the apical segments. There was a strong correlation between systolic and diastolic dysfunction: in fact all patients with diastolic dysfunction also presented a severe reduction of the systolic function.
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Ventricular Tachycardia in Non-Compaction of Left Ventricle: Is This a Frequent Complication?
Article
  • May 2007
Isolated left ventricular non-compaction is the result of incomplete myocardial morphogenesis, leading to persistence of the embryonic myocardium. The condition is recognized by an excessively prominent trabecular meshwork and deep intertrabecular recesses of the left ventricle. Whether these intertrabecular recesses are a favorable substrate for ventricular arrhythmias is unclear. Some reports have found that the fatal ventricular arrhythmias may occur in approximately half of the patients. In this report we investigated about this association. In total we evaluated a continuous series of 238 patients affected by non-compaction. Periodic Holter monitoring was performed every 6 months for 4 years. Only 11 patients had documented ventricular tachycardia, which was sustained in two cases and non-sustained in nine. In no cases we observed ventricular fibrillation. Non-compaction alone does not seem to be a risk factor for malignant ventricular arrhythmias.
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