A case report of autosomal recessive polycystic kidney disease with noncompaction of ventricular myocardium: coincidence or different manifestations of ciliopathy?

BACKGROUND: Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited cystic disease characterized by bilateral renal cyst formation and congenital liver fibrosis. Cardiovascular disorders such as noncompaction of ventricular myocardium (NVM) have not been reported with ARPKD. CASE PRESENTATION: A 5-month-old girl was examined after presenting with a fever and turbid urine for one day and was diagnosed as urinary tract infection. Urinary ultrasound showed multiple round, small cysts varying in size in both kidneys. Genetic testing revealed two heterozygous mutations and one exon deletion in the polycystic kidney and hepatic disease 1 gene, indicating a diagnosis of ARPKD. During hospitalization, she was found to have chronic heart failure after respiratory tract infection, with an ejection fraction of 29% and fraction shortening of 13%. When the patient was 15 months old, it was found that she had prominent trabeculations and deep intertrabecular recesses with the appearance of blood flow from the ventricular cavity into the intertrabecular recesses by echocardiography. The noncompaction myocardium was 0.716 cm and compaction myocardium was 0.221 cm (N/C = 3.27), indicating a diagnosis of NVM. Liver and kidney function remained normal during four-year follow-up. CONCLUSIONS: This is the first report of NVM in a patient with ARPKD. It is unsure if the coexistence of NVM and ARPKD is a coincidence or they are different manifestations of ciliary dysfunction in the heart and kidneys.

A novel mutation in the TTN gene resulted in left ventricular noncompaction: a case report and literature review.

BACKGROUND: Left ventricular noncompaction (LVNC) is a specific type of cardiomyopathy characterized by coarse trabeculae and interspersed trabecular crypts within the ventricles. Clinical presentation varies widely and may be nonsignificant or may present with progressive heart failure, malignant arrhythmias, and multiorgan embolism. The mode of inheritance is highly heterogeneous but is most commonly autosomal dominant. The TTN gene encodes titin, which is not only an elastic component of muscle contraction but also mediates multiple signalling pathways in striated muscle cells. In recent years, mutations in the TTN gene have been found to be associated with LVNC, but the exact pathogenesis is still not fully clarified. CASE PRESENTATION: In this article, we report a case of an adult LVNC patient with a TTN gene variant, c.87857G > A (p. Trp29286*), that has not been reported previously. This 43-year-old adult male was hospitalized repeatedly for heart failure. Echocardiography showed reduced myocardial contractility, dilated left ventricle with many prominent trabeculae, and a loose texture of the left ventricular layer of myocardium with crypt-like changes. During the out-of-hospital follow-up, the patient had no significant signs or symptoms of discomfort. CONCLUSION: This case report enriches the mutational spectrum of the TTN gene in LVNC and provides a basis for genetic counselling and treatment of this patient. Clinicians should improve their understanding of LVNC, focusing on exploring its pathogenesis and genetic characteristics to provide new directions for future diagnosis and treatment.

Informe de caso de miocardiopatía no compactada en una mujer de 34 años / Case report of left ventricular noncompaction cardiomyopathy in a 34-year-old woman

Introducción: la miocardiopatía no compactada (MCNC) es una miocardiopatía no clasificada por la Organización Mundial de la Salud. Se describe como una enfermedad congénita muy rara, donde se observan trabeculaciones endomiocárdicas que aumentan en número y prominencia. Esta miocardiopatía conlleva un alto riesgo de arritmias malignas, fenómeno tromboembólico y disfunción ventricular izquierda. Objetivo: reportar el caso de una mujer de 34 años, diagnosticada previamente con obesidad mórbida, que acudió a consulta externa para una evaluación cardiovascular prequirúrgica. El electrocardiograma mostró el ventrículo izquierdo (VI) ligeramente dilatado y llamativa trabeculación del mismo. Resultados: se confirma el diagnóstico de MCNC a través de una imagen de resonancia magnética. Se autoriza su cirugía y se recomiendan cambios en su estilo de vida y cambio de medicación para riesgos de fallo cardíaco. En el último ecocardiograma, los diámetros del VI muestran mejoría con respecto al primero. Conclusiones: la presencia de trabeculaciones en el VI debe considerarse un dato clínico de sospecha de MCNC. Se deben realizar más investigaciones sobre las causas de esta miocardiopatía no clasificada para desarrollar mejores formas terapéuticas, sin embargo, ha sido probada la eficacia de los bloqueadores de los receptores de la angiotensina II en el manejo farmacoterapéutico de esta condición

Introduction: Left ventricular non-compaction cardiomyopathy (LVNC) is a cardiomyopathy not classified by the World Health Organization. It is described as a very rare congenital disease where endomyocardial trabeculations that increase in number and prominence are observed. This cardiomyopathy carries a high risk of malignant arrhythmias, thromboembolic events and left ventricular dysfunction. Objective: To report the case of a 34-year-old woman, previously diagnosed with morbid obesity, who came to the outpatient clinic for a preoperative cardiovascular evaluation. The electrocardiogram showed a slightly dilated left ventricle (LV) and striking trabeculation. Results: The diagnosis of LVNC was confirmed by magnetic resonance imaging. Surgery was authorized and lifestyle changes and change of medication for heart failure risks were recommended. On the last echocardiogram, LV diameters show improvement from the first. Conclusions: The presence of trabeculations in the LV should be considered as clinical data of suspected LVNC. Further investigations on the causes of this unclassified cardiomyopathy should be performed to develop better therapeutic ways, however, the efficacy of angiotensin II receptor blockers in the pharmacotherapeutic management of this condition has been proven

Association of Myocardial Muscle Non-Compaction and Multiple Ventricular Septal Defects by Echocardiography.

The aim of this study is to examine the possible high association between multiple ventricular septal defect (mVSDs) and noncompaction cardiomyopathy (NCM) as same embryological origin, and the effect of depressed ventricular function in NCM cases during the follow-up, using echocardiography. A total of 150 patients with mVSDs were diagnosed in a single center in Saudi Arabia; 40 cases with isolated or associated with minor congenital heart disease were recruited. Three specialist echocardiography consultants confirmed the NCM diagnosis separately using Jenni, Chin and Patrick criteria, and myocardial function was estimated by ejection fraction at admission and at follow-up after surgery. Stata-14 to analyze the data was used. In our cohort of 40 cases with mVSD (median age at diagnosis = 0.5 years; mean follow-up = 4.84 years), 13(33%) had criteria of non-compaction confirmed by the three specialist consultants. All were operated by surgery and 11 hybrid approach (interventional & surgery). A significant relationship between abnormal trabeculations and mVSD with or without non-compaction was observed, 34% vs 66% respectively (p < 0.03, Fisher's exact test). A repeated-measures t-test found the difference between follow-up and preoperative ejection-fractions to be statistically significant (t (39) = 2.07, p < 0.04). Further, the myocardial function in the mVSD non-compaction group normalized substantially postoperatively compared with preoperative assessment (mean difference (MD) 11.77, 95% CI: 4.40-19.14), whilst the mVSD group with normal myocardium had no significant change in the myocardium function (MD 0.74, 95% CI: -4.10-5.58). Thus, treatment outcome appears better in the mVSD non-compaction group than their peers with normal myocardium. Acknowledging the lack of genetic data, it is evident the high incidence of non-compaction in this cohort of patients with mVSD and supports our hypothesis of embryonic/genetic link, unlikely to be explained by acquired cardiomyopathy.

Miocardiopatia não compactada em crianças e adolescentes: do desafio do diagnóstico ecocardiográfico ao acompanhamento clínico / Non-compacted cardiomyopathy in children and adolescents: from the challenge of echocardiographic diagnosis to clinical follow-up

Fundamentos: Miocardiopatia não compactada (MCNC) caracteriza-se por hipertrabeculações e recessos profundos no ventrículo esquerdo, com apresentação clínica heterogênea, desde pacientes assintomáticos a insuficiência cardíaca (IC), eventos tromboembólicos arritmias com risco de morte súbita. Por ser rara e não apresentar critérios diagnósticos bem definidos, sua história natural na pediatria é pouco conhecida. Este estudo descreve a apresentação e evolução clínica de pacientes portadores de MCNC. Metodologia: Estudo observacional, longitudinal, prospectivo, de pacientes pediátricos atendidos em um centro de referência em cardiologia pediátrica provenientes da região metropolitana II do Estado do Rio de Janeiro, com fenótipo de MCNC ao ecocardiograma (ECO) no período de 2 anos de acompanhamento, provenientes do Registro ChARisMa. Resultados: Analisados seis pacientes com MCNC, de 4 a 14 anos de idade, média de idade de 7,5 anos (DP: 3,93), 3 do sexo masculino (50%). Apresentando-se com IC (n=2), sopro cardíaco (n=1), arritmia cardíaca (n=1), assintomático (n=1) ou em investigação de síndrome genética (n=1). Fenótipos ao ECO: MCNC/Miocardiopatia dilatada (n=1) e MCNC/Miocardiopatia restritiva (n=1), fenótipo isolado de MCNC (n=4). A ressonância magnética cardíaca foi realizada, confirmando o diagnóstico (n=4). Os desfechos observados foram tromboembolismo, indicação de transplante cardíaco e taquicardia ventricular sustentada. Conclusões: Esta série de casos proporciona dados relevantes da MCNC pediátrica, mostrando a heterogeneidade da apresentação clínica, bem como a ocorrência de complicações potencialmente fatais. São necessários mais estudos prospectivos para que seu diagnóstico seja corretamente realizado e sua evolução clínica, resposta terapêutica e prognóstico sejam mais bem conhecidos. (AU)

Background: Non-compacted cardiomyopathy (NCCM) is characterized by hypertrabeculations and deep recesses in the left ventricle, with a heterogeneous clinical presentation, ranging from asymptomatic patients to those with heart failure (HF), thromboembolic events and arrhythmias with risk of sudden death. As it is rare and does not have well-defined diagnostic criteria, its natural history in pediatrics is poorly understood. This study describes the clinical presentation and clinical course of patients with NCCM. Methodology: Observational, longitudinal, prospective study of pediatric patients seen at a pediatric cardiology referral center from metropolitan region II in the state of Rio de Janeiro, with NCCM phenotype on echocardiogram (ECHO) during a 2-year follow-up, from the ChARisMa registry. Results: 6 patients aged 4 to 14, with NCCM, were analyzed. Mean age 7.5 years (SD: 3.93), 3 males (50%). The patients presented HF (n=2), cardiac murmur (n=1), cardiac arrhythmia (n=1), were asymptomatic (n=1) or were under investigation for a genetic syndrome (n=1). Phenotypes on ECHO: NCCM/dilated cardiomyopathy (n=1) and NCCM/restrictive cardiomyopathy (n=1), isolated phenotype of NCCM (n=4). Cardiac magnetic resonance imaging was performed and confirmed the diagnosis (n=4). The outcomes observed were thromboembolism, indication for heart transplantation, and sustained ventricular tachycardia. Conclusions:This case series provides relevant data for pediatric NCCM as it shows its heterogeneous clinical presentation and potentially fatal complications. More prospective studies are needed for an accurate diagnosis and to allow its clinical course, therapeutic response and prognosis to be better known. (AU)

Cardiovascular Magnetic Resonance and Sport Cardiology: a Growing Role in Clinical Dilemmas.

Exercise training induces morphological and functional cardiovascular adaptation known as the "athlete's heart" with changes including dilatation, hypertrophy, and increased stroke volume. These changes may overlap with pathological appearances. Distinguishing athletic cardiac remodelling from cardiomyopathy is important and is a frequent medical dilemma. Cardiac magnetic resonance (CMR) has a role in clinical care as it can refine discrimination of health from a disease where ECG and echocardiography alone have left or generated uncertainty. CMR can more precisely assess cardiac structure and function as well as characterise the myocardium detecting key changes including myocardial scar and diffuse fibrosis. In this review, we will review the role of CMR in sports cardiology.

Effect of Noncompacted Myocardial Resection on Isolated Left Ventricular Noncompaction.

Isolated left ventricular noncompaction, where broad trabeculae and deep intertrabecular recesses are observed in the left ventricular myocardium resulting from an arrest in normal embryogenesis, is a rare cardiomyopathy. We present a report on isolated trabeculectomy and postoperative echocardiographic follow-up showing recovery of cardiac function for isolated left ventricular noncompaction.

Left Ventricular Noncompaction: Cause or Consequence of Myocardial Disease? A Case Report and Literature Review.

A 57-year-old woman presented to the Emergency Department with symptoms of worsening heart failure (HF). She had a past medical history of breast cancer treated with surgery and chemotherapy with anthracyclines and no family history of cardiomyopathy (CMP). In the last year, she received a diagnosis of HF with normal coronary arteries, during hospitalization for acute onset of dyspnea and was treated with medical therapy. After several months, few days before admission to our hospital, an echocardiography (ECHO) showed features of left ventricular noncompaction (LVNC), not described in previous ECHO and further confirmed by cardiac magnetic resonance. This case highlights the current uncertainties regarding the pathogenesis of LVNC and the clinical challenge of cardiologists facing LVNC morphology to decide if they are observing a genetic CMP, a phenotype overlapping with dilated or hypertrophic CMP, or a variant of the left ventricular (LV) wall anatomy. No consensus exists among scientific communities regarding diagnostic criteria of LVNC and in most cases; the key element in the diagnostic decision is not the LVNC by itself, but the associated LV dilation and/or dysfunction, hypertrophy, arrhythmias, and embolic events.

The effect of contrast agents on left ventricular parameters calculated by a threshold-based software module: does it truly matter?

The acquisition of short-axis (SA) cine magnetic resonance (MR) images after the administration of contrast agent (CA) is a common, time-saving technique, but a decreased difference in the blood-myocardium contrast on these steady-state free precession (SSFP) cine scans could change the calculated parameters when using threshold-based papillary and trabecular muscle (PTM) quantification. We studied the effect of CA on the parameters calculated from pre- and post-CA SA cine images in noncompaction cardiomyopathy (NC-CMP) and healthy (H) participants using a threshold-based module. A total of 39 individuals (20 patients and 19 healthy) were included prospectively in this study. After the pre-CA SA images were acquired, i.v. gadobutrol (GA) or gadobenate dimeglumine (GD) (GA vs. GD: NC-CMP = 12 vs. 8; C = 12 vs. 7) was administered, and SA scans were repeated after two minutes. A threshold-based PTM software was used for postprocessing. Pre-CA and post-CA SA images were analyzed, and the parameters were compared in both the NC-CMP and H groups. The left ventricular volumes were significantly larger, while the left ventricular myocardial (LVmass) and trabecular mass (LVtrab) values were significantly smaller on the post-CA scans (NC-CMP: pre-CA vs. post-CA, EDV: 74.0 ± 13.6 vs. 81.1 ± 16.3 ml/m2, ESV: 25.3 ± 7.3 vs. 30.1 ± 11.2 ml/m2, LVmass-ED: 82.5 ± 17.5 vs. 75.7 ± 15.9 g/m2, LVtrab-ED: 25.0 ± 6.6 vs. 18.9 ± 4.7 g/m2; Healthy: preCA vs. post-CA, EDV: 69.7 ± 11.9 vs. 72.2 ± 10.7 ml/m2, ESV: 22.6 ± 5.7 vs. 23.9 ± 6.3 ml/m2, LVmass-ED: 71.3 ± 13.6 vs. 68.7 ± 13.9 g/m2, LVtrab-ED: 19.4 ± 2.6 vs. 16.2 ± 3.0 g/m2; p < 0.05). The decreased blood-myocardium contrast difference on post-CA SSFP SA cine images leads to altered cardiac parameters when using threshold-based software for evaluation.

Left ventricular noncompaction in a Para athlete / Miocárdio não compactado em paratleta

ABSTRACT The left ventricular noncompaction is a congenital cardiomyopathy characterized by the presence of abnormal trabeculations in the left ventricle. The present study describes the case of a 14-year-old female Para athlete, who plays goalball. She was asymptomatic, with history of congenital nystagmus and mild visual impairment, who presented nonspecific electrocardiographic abnormalities during pre-competition screening. Cardiac magnetic resonance imaging showed left ventricular non-compaction (non-compacted to compacted layer ratio equal to 2.5) and mild biventricular systolic dysfunction. Initially, the patient was excluded from sports participation and clinical follow-up was performed every three months. Patient remained asymptomatic during the one-year follow-up, with no history of unexplained syncope, marked impairment of systolic function or significant ventricular arrhythmias at the exercise stress test. Finally, she was released for competitive goalball participation and clinical follow-up was continued every 6 months. There is no consensus regarding the eligibility criteria for sports participation in cases of left ventricular non-compaction. Thus, it is prudent to individualize the decision regarding practice of sports, as well as to consider participation in competitive sports for asymptomatic individuals and with no disease repercussions.

RESUMO O miocárdio não compactado é uma cardiomiopatia congênita caracterizada pela presença de trabeculações anormais no ventrículo esquerdo. O presente estudo descreve o caso de uma paratleta de goalball, 14 anos, sexo feminino, assintomática, com história pessoal de nistagmo congênito e leve deficiência visual, que apresentou alterações eletrocardiográficas inespecíficas durante avaliação pré-participação. A ressonância magnética cardíaca evidenciou presença de não compactação miocárdica (relação entre camada não compactada/camada compactada igual a 2,5) e disfunção sistólica biventricular leve. Inicialmente, a paciente foi afastada da prática de esportes, e o seguimento clínico foi realizado a cada 3 meses. A paciente permaneceu assintomática durante o período de 1 ano de seguimento, sem história de síncope inexplicada, comprometimento significativo da função sistólica ou taquiarritmias ventriculares importantes ao teste de esforço. Por fim, ela foi liberada para prática competitiva de goalball, e o seguimento clínico foi mantido a cada 6 meses. Não há consenso quanto aos critérios de elegibilidade para a prática esportiva nos casos de miocárdio não-compactado. Assim, é prudente individualizar a decisão quanto a prática esportiva, bem como considerar a participação em esportes competitivos para indivíduos assintomáticos e sem repercussões da doença.

Fetal noncompaction cardiomyopathy and histologic diagnosis of spongy myocardium: case report and review of the literature

Abstract Noncompaction cardiomyopathy (NCCM) and left ventricular noncompaction (LVNC), in their isolated form, are rare cardiomyopathies. They are characterized by a thickened myocardium due to the presence of deep trabeculae recesses, and to thick trabeculae. This condition is associated with a variable clinical phenotype including heart failure, thromboembolism, and sudden death. We report a case of LVNC at 26 weeks and 4 days of gestation revised on the basis of what is currently reported in the literature. A review of the literature was performed to better describe this rare condition. Left ventricular noncompaction is a rare fetal condition and it should be suspected in case of cardiomyopathy.

Semi-automatic detection of myocardial trabeculation using cardiovascular magnetic resonance: correlation with histology and reproducibility in a mouse model of non-compaction.

BACKGROUND: The definition of left ventricular (LV) non-compaction is controversial, and discriminating between normal and excessive LV trabeculation remains challenging. Our goal was to quantify LV trabeculation on cardiovascular magnetic resonance (CMR) images in a genetic mouse model of non-compaction using a dedicated semi-automatic software package and to compare our results to the histology used as a gold standard. METHODS: Adult mice with ventricular non-compaction were generated by conditional trabecular deletion of Nkx2-5. Thirteen mice (5 controls, 8 Nkx2-5 mutants) were included in the study. Cine CMR series were acquired in the mid LV short axis plane (resolution 0.086 × 0.086x1mm3) (11.75 T). In a sub set of 6 mice, 5 to 7 cine CMR were acquired in LV short axis to cover the whole LV with a lower resolution (0.172 × 0.172x1mm3). We used semi-automatic software to quantify the compacted mass (Mc), the trabeculated mass (Mt) and the percentage of trabeculation (Mt/Mc) on all cine acquisitions. After CMR all hearts were sliced along the short axis and stained with eosin, and histological LV contouring was performed manually, blinded from the CMR results, and Mt, Mc and Mt/Mc were quantified. Intra and interobserver reproducibility was evaluated by computing the intra class correlation coefficient (ICC). RESULTS: Whole heart acquisition showed no statistical significant difference between trabeculation measured at the basal, midventricular and apical parts of the LV. On the mid-LV cine CMR slice, the median Mt was 0.92 mg (range 0.07-2.56 mg), Mc was 12.24 mg (9.58-17.51 mg), Mt/Mc was 6.74% (0.66-17.33%). There was a strong correlation between CMR and the histology for Mt, Mc and Mt/ Mc with respectively: r2 = 0.94 (p < 0.001), r2 = 0.91 (p < 0.001), r2 = 0.83 (p < 0.001). Intra- and interobserver reproducibility was 0.97 and 0.8 for Mt; 0.98 and 0.97 for Mc; 0.96 and 0.72 for Mt/Mc, respectively and significantly more trabeculation was observed in the Mc Mutant mice than the controls. CONCLUSION: The proposed semi-automatic quantification software is accurate in comparison to the histology and reproducible in evaluating Mc, Mt and Mt/ Mc on cine CMR.

A Rare Case of Non-compaction Cardiomyopathy in an Indo-Caribbean Patient / Un raro caso de cardiomiopatía no compactada en un paciente indo-caribeño

ABSTRACT Non-compaction cardiomyopathy is a rare form of cardiac disease that presents with symptoms of congestive heart failure, ventricular arrhythmias or thromboembolism. Within the Caribbean setting, there are limited data regarding its existence. We present a case of non-compaction cardiomyopathy, diagnosed by transthoracic echocardiogram and cardiac magnetic resonance imaging, with the use of established criteria. It is interesting to highlight such a condition within the small Caribbean population, especially given its link to heritability and the ease with which it can be mistaken for a dilated cardiomyopathy.

RESUMEN La miocardiopatía no compactada o espongiforme es una forma rara de enfermedad cardíaca que se presenta con síntomas de insuficiencia cardíaca congestiva, arritmias ventriculares o tromboembolismos. En el entorno caribeño, hay datos limitados sobre su existencia. Presentamos un caso de cardiomiopatía no compactada, diagnosticada mediante ecocardiograma transtorácico y resonancia magnética cardíaca, con el uso de criterios establecidos. Es interesante destacar tal condición dentro de la pequeña población caribeña, especialmente dada su relación con la heredabilidad y la facilidad con la que se le puede confundir con una miocardiopatía dilatada.

Novel α-Actin Gene Mutation p.(Ala21Val) Causing Familial Hypertrophic Cardiomyopathy, Myocardial Noncompaction, and Transmural Crypts. Clinical-Pathologic Correlation.

BACKGROUND: Mutations of α-actin gene (ACTC1) have been phenotypically related to various cardiac anomalies, including hypertrophic cardiomyopathy and dilated cardiomyopathy and left ventricular (LV) myocardial noncompaction. A novel ACTC mutation is reported as cosegregating for familial hypertrophic cardiomyopathy and LV myocardial noncompaction with transmural crypts. METHODS AND RESULTS: In an Italian family of 7 subjects, 4 aged 10 (II-1), 14 (II-2), 43 (I-4) and 46 years (I-5), presenting abnormal ECG changes, dyspnea and palpitation (II-2, I-4, and I-5), and recurrent cerebral ischemic attack (I-5), underwent 2-dimensional echo, cardiac magnetic resonance, Holter monitoring, and next-generation sequencing gene analysis. Patients II-2 and I-5 with ventricular tachycardia underwent a cardiac invasive study, including coronary with LV angiography and endomyocardial biopsy. In all the affected members, ECG showed right bundle branch block and left anterior hemiblock with age-related prolongation of QRS duration. Two-dimensional echo and cardiac magnetic resonance documented LV myocardial noncompaction in all and in I-4, I-5, and II-2 a progressive LV hypertrophy up to 22-mm maximal wall thickness. Coronary arteries were normal. LV angiography showed transmural crypts progressing to spongeous myocardial transformation with LV dilatation and dysfunction in the oldest subject. At histology and electron microscopy detachment of myocardiocytes were associated with cell and myofibrillar disarray and degradation of intercalated discs causing disanchorage of myofilaments to cell membrane. Next-generation sequencing showed in affected members an unreported p.(Ala21Val) mutation of ACTC. CONCLUSIONS: Novel p.(Ala21Val) mutation of ACTC1 causes myofibrillar and intercalated disc alteration leading to familial hypertrophic cardiomyopathy and LV myocardial noncompaction with transmural crypts.

Auxiliary diagnostic potential of ventricle geometry and late gadolinium enhancement in left ventricular non-compaction; non-randomized case control study.

BACKGROUND: There are still ambiguities existing in regard to left ventricular non-compaction (LVNC) diagnostic imaging. The aim of our study was to analyze diagnostic potential of late gadolinium enhancement (LGE) and ventricle geometry in patients with LVNC and controls. METHODS: Data on cardiac magnetic resonance imaging (CMR) studies for LVNC were reassessed from the hospital's database (3.75 years; n=1975 exams). Matching sample of controls included cases with no structural heart disease, hypertrophic or dilative cardiomyopathy, arrhythmogenic right ventricular dysplasia or subacute myocarditis. Eccentricity of the left ventricle was measured at end diastole in the region with pronounced NC and maximal to minimal ratio (MaxMinEDDR) was calculated. RESULTS: Study included 255 patients referred for CMR, 100 (39.2%) with LVNC (prevalence in the studied period 5.01%) and 155 (60.8%) controls. Existing LGE had sensitivity of 52.5% (95%-CI:42.3-62.5), specificity of 80.4% (95%-CI:73.2-86.5) for LVNC, area under curve (AUC) 0.664 (95%-CI:0.603-0.722);p<0.001. MaxMinEDDR>1.10 had sensitivity of 95.0% (95%-CI:88.7-98.4), specificity of 82.6% (95%-CI: 75.7-88.2) for LVNC, AUC 0.917 (95%-CI:0.876-0.948); p<0.001. LGE correlated with Max-Min-EDD-R (Rho=0.130; p=0.038) and there was significant difference in ROC analysis ΔAUC0.244 (95%-CI:0.175-0.314); p<0.001. LGE also correlated negatively with stroke volume and systolic function (both p<0.05, respectively). CONCLUSIONS: LGE was found to be frequently expressed in patients with LVNC, but without sufficient power to be used as a discriminative diagnostic parameter. Both LGE and eccentricity of the left ventricle were found to be relatively solid diagnostic landmarks of complex infrastructural and functional changes within the failing heart.

Variant of myocardial infarction course in the patient with left ventricular non-compaction.

Non-compacted left ventricle in adults is a rare occurrence, though it is diagnosed even more rarely. As a rule in patients with non-compacted left ventricle (LVNC) other pathologic condition is diagnosed, notably hypertrophic or dilated cardiomyopathy. The majority of LVNC cases are diagnosed in early infancy but currently there are asymptomatic cases detected by means of echocardiographic examination. Real prevalence of LVNC is unknown. According to many authors LVNC occurs in 9.2-9.5% of children with diagnosed cardiomyopathies. The majority of such children do not survive till adulthood because of progressive severe heart failure, fatal arrhythmias and thromboembolisms. This value ranges from 0.014 to 0.05% in adult population. The article presents a clinical case illustrating the stages in establishing the diagnosis of non-compacted left ventricle in a young patient with myocardial infarction and congestive heart failure. Common characteristics of non-compacted left ventricle and connective tissue dysplasia syndrome in the patient suggested etiopathogenetic relationship between these two pathologic states. The basic common characteristic feature of both non-compacted left ventricle and connective tissue dysplasia syndrome proved to be multiple abnormal chords of the left ventricle. The patient was supposed to have some coronary circulation abnormality inherited together with non-compacted left ventricle and connective tissue dysplasia syndrome. Adverse prognosis and high mortality in non-compacted left ventricle require its early recognition and differentiated approach to treatment depending on the severity of the disease and using all modern methods of treatment both conservative and surgical.