Left Ventricular Myocardial Noncompaction with Advanced Atrioventricular Conduction Disorder and Ventricular Arrhythmias in a Young Patient: Role of MIB1 Gene

Left ventricular noncompaction (LVNC) is a structural abnormality of the left ventricle, usually described as an isolated condition, or sometimes associated with other structural cardiac diseases. LVNC is generally asymptomatic, although it may present conduction disorders, arrhythmias, and heart failure. Here, we present the case of a patient who came to our attention with a severe LVNC phenotype associated with advanced AV conduction disorder, and supraventricular and ventricular arrhythmias at young age, in which a novel MIB1, likely pathogenic, variation has been identified.

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Myocardial Noncompaction

Revista de Chimie ◽

10.37358/rc.18.8.6500 ◽

2018 ◽

Vol 69 (8) ◽

pp. 2209-2212

Author(s):

Alexandru Radu Mihailovici ◽

Vlad Padureanu ◽

Carmen Valeria Albu ◽

Venera Cristina Dinescu ◽

Mihai Cristian Pirlog ◽

...

Keyword(s):

Ventricular Arrhythmias ◽

Specific Treatment ◽

Left Ventricular ◽

Left Ventricular Noncompaction ◽

Ventricular Noncompaction ◽

Genetic Transmission ◽

Asymptomatic Patients ◽

Increased Risk ◽

Patients With Heart Failure

Left ventricular noncompaction is a primary cardiomyopathy with genetic transmission in the vast majority of autosomal dominant cases. It is characterized by the presence of excessive myocardial trabecularities that generally affect the left ventricle. In diagnosing this condition, echocardiography is the gold standard, although this method involves an increased risk of overdiagnosis and underdiagnosis. There are also uncertain cases where echocardiography is inconclusive, a multimodal approach is needed, correlating echocardiographic results with those obtained by magnetic resonance imaging. The clinical picture may range from asymptomatic patients to patients with heart failure, supraventricular or ventricular arrhythmias, thromboembolic events and even sudden cardiac death. There is no specific treatment of left ventricular noncompaction, but the treatment is aimed at preventing and treating the complications of the disease. We will present the case of a young patient with left ventricular noncompactioncardiomyopathy and highlight the essential role of transthoracic echocardiography in diagnosing this rare heart disease.

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Diagnostic and prognostic impact of cardiac magnetic resonance, including scar quantification and strain imaging in patients with malignant ventricular arrhythmias and nonobstructed coronary arteries

European Heart Journal - Cardiovascular Imaging ◽

10.1093/ehjci/jeaa356.369 ◽

2021 ◽

Vol 22 (Supplement_1) ◽

Author(s):

L Szabo ◽

V Bodi ◽

CS Czimbalmos ◽

ZS Dohy ◽

V Horvath ◽

...

Keyword(s):

Cardiac Magnetic Resonance ◽

Magnetic Resonance ◽

Coronary Arteries ◽

Ventricular Arrhythmias ◽

Left Ventricular ◽

Myocardial Scar ◽

Scar Formation ◽

Structural Abnormality ◽

Icd Therapy ◽

All Cause Mortality

Abstract Funding Acknowledgements Type of funding sources: Public grant(s) – National budget only. Main funding source(s): Development and Innovation Fund of Hungary, National Research, Development and Innovation Office Background In case of malignant ventricular arrhythmias (VA) and nonobstructed coronary arteries, the differential diagnosis of the underlying diseases is still challenging, due to the board spectrum of possible causes. Cardiac magnetic resonance (CMR) provides functional, morphological and tissue specific information, including necrotic and scar-tissue. Aims We aimed to assess the diagnostic and prognostic implications of CMR parameters including global strain values and myocardial scar in patients after ventricular fibrillation (VF) or sustained ventricular tachycardia (SVT) and nonobstructed coronary arteries. Methods Between 2011 and 2019, 99 patients (42 ±17 years, 54 male) presenting with VF or SVT and nonobstructed coronary arteries, who underwent CMR examination before secondary prevention implantable cardioverter defibrillator (ICD) implantation were included in our study. Post-processing included feature-tracking strain analysis and left ventricular (LV) scar quantification. Patients were followed for the combined endpoint of all-cause-mortality and appropriate ICD therapy. Results CMR examination proved structural myocardial disease in 72%: dilated (n = 21), arrhythmogenic (n = 11), hypertrophic cardiomyopathy (n = 7) and other cardiomyopathies (n = 3). We found LGE patterns showing chronic myocardial infarction (n = 4), suggesting chronic myocarditis (n = 4) and aspecific nonischemic scar formation (n = 14). In 7 cases aspecific structural alterations without scar formation were detected. Overall, myocardial scar was found in 52%, with an average extent of 12 ± 8% of the LV myocardium. The CMR examination changed the clinical diagnosis in 55% of the patients. During a median follow-up at 2 years, 6 patients died and 42 experienced appropriate ICD therapy. We found an association between cardiac events and the presence of structural abnormality and myocardial scar (logrank: 4,553, p < 0.05 and 8.375, p <0.01). On Cox proportional-hazards modell LV ejection fraction, LV stroke volume index, the presence of structural abnormality, the presence and extent of myocardial scar, global LV strain parameters including longitudinal and circumferential strain, and a global left ventricular dssynchrony parameter (mechanical dispersion) were univariate predictors of the combined endpoint of all-cause-mortality and appropriate ICD therapy(p < 0.05). Conclusion CMR performed in patients after malignant VA and nonobstructed coronary arteries not only establishes the diagnosis in a high proportion of patients, but may also provide additional prognostic factors. This may indicate that CMR could play a complementary role in the risk stratification in this patient population. Abstract Figure.

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The role of cardiac computed tomography in diagnosing left ventricular noncompaction in patients with sinus node dysfunction

International Journal of Cardiology ◽

10.1016/j.ijcard.2016.03.104 ◽

2016 ◽

Vol 214 ◽

pp. 77-78 ◽

Cited By ~ 1

Author(s):

Aleksandra Sustar ◽

Davorka Zagar ◽

Dragan Javoran ◽

Viktor Persic ◽

Karlo Stanic

Keyword(s):

Computed Tomography ◽

Cardiac Computed Tomography ◽

Sinus Node ◽

Left Ventricular ◽

Sinus Node Dysfunction ◽

Left Ventricular Noncompaction ◽

Ventricular Noncompaction

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Ventricular arrhythmias associated with left ventricular noncompaction: Electrophysiologic characteristics, mapping, and ablation

Heart Rhythm ◽

10.1016/j.hrthm.2016.11.014 ◽

2017 ◽

Vol 14 (2) ◽

pp. 166-175 ◽

Cited By ~ 15

Author(s):

Daniele Muser ◽

Jackson J. Liang ◽

Walter RT Witschey ◽

Rajeev K. Pathak ◽

Simon Castro ◽

...

Keyword(s):

Ventricular Arrhythmias ◽

Left Ventricular ◽

Left Ventricular Noncompaction ◽

Ventricular Noncompaction

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Left ventricular noncompaction—a rare cause of triad: heart failure, ventricular arrhythmias, and systemic embolic events: a case report

Journal of Medical Case Reports ◽

10.1186/s13256-021-02862-x ◽

2021 ◽

Vol 15 (1) ◽

Author(s):

Despina Toader ◽

Alina Paraschiv ◽

Petrișor Tudorașcu ◽

Diana Tudorașcu ◽

Constantin Bataiosu ◽

...

Keyword(s):

Heart Failure ◽

Cardiac Magnetic Resonance ◽

Magnetic Resonance ◽

Left Ventricle ◽

Ventricular Arrhythmias ◽

Left Ventricular ◽

Left Ventricular Ejection ◽

Left Ventricular Noncompaction ◽

Ventricular Noncompaction ◽

The Right

Abstract Background Left ventricular noncompaction is a rare cardiomyopathy characterized by a thin, compacted epicardial layer and a noncompacted endocardial layer, with trabeculations and recesses that communicate with the left ventricular cavity. In the advanced stage of the disease, the classical triad of heart failure, ventricular arrhythmia, and systemic embolization is common. Segments involved are the apex and mid inferior and lateral walls. The right ventricular apex may be affected as well. Case presentation A 29-year-old Caucasian male was hospitalized with dyspnea and fatigue at minimal exertion during the last months before admission. He also described a history of edema of the legs and abdominal pain in the last weeks. Physical examination revealed dyspnea, pulmonary rales, cardiomegaly, hepatomegaly, and splenomegaly. Electrocardiography showed sinus rhythm with nonspecific repolarization changes. Twenty-four-hour Holter monitoring identified ventricular tachycardia episodes with right bundle branch block morphology. Transthoracic echocardiography at admission revealed dilated left ventricle with trabeculations located predominantly at the apex but also in the apical and mid portion of lateral and inferior wall; end-systolic ratio of noncompacted to compacted layers > 2; moderate mitral regurgitation; and reduced left ventricular ejection fraction. Between apical trabeculations, multiple thrombi were found. The right ventricle had normal morphology and function. Speckle-tracking echocardiography also revealed systolic left ventricle dysfunction and solid body rotation. Abdominal echocardiography showed hepatomegaly and splenomegaly. Abdominal computed tomography was suggestive for hepatic and renal infarctions. Laboratory tests revealed high levels of N-terminal pro-brain natriuretic peptide and liver enzymes. Cardiac magnetic resonance evaluation at 1 month after discharge confirmed the diagnosis. The patient received anticoagulants, antiarrhythmics, and heart failure treatment. After 2 months, before device implantation, he presented clinical improvement, and echocardiographic evaluation did not detect thrombi in the left ventricle. Coronary angiography was within normal range. A cardioverter defibrillator was implanted for prevention of sudden cardiac death. Conclusions Left ventricular noncompaction is rare cardiomyopathy, but it should always be considered as a possible diagnosis in a patient hospitalized with heart failure, ventricular arrhythmias, and systemic embolic events. Echocardiography and cardiac magnetic resonance are essential imaging tools for diagnosis and follow-up.

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Abstract 15632: Phenotypic Overlap Between Left Ventricular Noncompaction and Hypertrophic Cardiomyopathy: A Case Report

Circulation ◽

10.1161/circ.142.suppl_3.15632 ◽

2020 ◽

Vol 142 (Suppl_3) ◽

Author(s):

Ethan Senser ◽

Madison Hawkins ◽

Eric M Williams ◽

Lauren Gilstrap

Keyword(s):

Hypertrophic Cardiomyopathy ◽

Cardiac Mri ◽

Genetic Diagnosis ◽

Lateral Wall ◽

Anterior Wall ◽

Left Ventricular ◽

Ventricular Noncompaction ◽

History Of ◽

Clinically Significant

Introduction: Left ventricular non-compaction (LVNC) is characterized by extensively trabeculaed myocardium adjacent to normal compacted myocardium of the left ventricle (LV). Hypertrophic cardiomyopathy (HCM) typically appears as diffuse or segmental LV hypertrophy, with or without outflow tract obstruction. Cardiac sarcomere mutations are present in most HCM cases and have also been identified in LVNC. Whether or not there is clinically significant phenotypic overlap between the two diseases is less well understood. We present a case of known HCM that met criteria for both LVNC and HCM by cardiac MRI. Case: A 49-year old man with HCM due to a c.3742_3759dup variant in MYBPC3 presented to clinic after an episode of syncope and ICD firing. In clinic, the device was interrogated and he was found to have had ventricular flutter which was successfully treated with one shock and a new, high (>20%) burden of premature ventricular beats. An echocardiogram showed a stable ejection fraction at 42%, mild concentric LV hypertrophy without obstruction and a newly dilated LV with an end diastolic diameter of 7.1cm (previously 6.2cm). A cardiac MRI was performed ( Figure ) and showed LV noncompaction and diffuse transmural and mid myocardial hyperenhancement/fibrosis of the septum, basilar lateral wall, anterior wall, and distal right ventricle consistent with patient's long-standing history of hypertrophic cardiomyopathy. Discussion: This case highlights the phenotypic overlap between HCM and LVNC by cardiac MRI. Had this patient not already carried a genetic diagnosis of HCM, he would likely have been diagnosed with LVNC based on this cardiac MRI. The phenotypic overlap in these diseases raises questions about ICD guidelines, the role of anticoagulation and prognosis.

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Ventricular Arrhythmias due to Left Ventricular Noncompaction Cardiomyopathy: A Diagnosis in Hindsight

Heart Lung and Circulation ◽

10.1016/j.hlc.2013.05.645 ◽

2014 ◽

Vol 23 (2) ◽

pp. e67-e68

Author(s):

Jackson J. Liang ◽

Kyle M. McKenzie ◽

Yong-Mei Cha

Keyword(s):

Ventricular Arrhythmias ◽

Left Ventricular ◽

Left Ventricular Noncompaction ◽

Ventricular Noncompaction ◽

Noncompaction Cardiomyopathy ◽

Left Ventricular Noncompaction Cardiomyopathy

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Catheter Ablation of Ventricular Arrhythmias in Left Ventricular NonCompaction Cardiomyopathy

Heart Rhythm ◽

10.1016/j.hrthm.2020.12.014 ◽

2020 ◽

Author(s):

Juan José Sánchez Muñoz ◽

Carmen Muñoz Esparza ◽

Pablo Peñafiel Verdú ◽

Juan Martínez Sánchez ◽

Francisco García Almagro ◽

...

Keyword(s):

Catheter Ablation ◽

Ventricular Arrhythmias ◽

Left Ventricular ◽

Left Ventricular Noncompaction ◽

Ventricular Noncompaction ◽

Noncompaction Cardiomyopathy ◽

Left Ventricular Noncompaction Cardiomyopathy

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Mitral Valve Prolapse, Ventricular Arrhythmias, and Sudden Death

Circulation ◽

10.1161/circulationaha.118.034075 ◽

2019 ◽

Vol 140 (11) ◽

pp. 952-964 ◽

Cited By ~ 19

Author(s):

Cristina Basso ◽

Sabino Iliceto ◽

Gaetano Thiene ◽

Martina Perazzolo Marra

Keyword(s):

Cardiac Magnetic Resonance ◽

Magnetic Resonance ◽

Mitral Valve ◽

Sudden Death ◽

Mitral Valve Prolapse ◽

Ventricular Arrhythmias ◽

Left Ventricular ◽

Premature Ventricular Beats ◽

Electrophysiologic Studies

Despite a 2% to 3% prevalence of echocardiographically defined mitral valve prolapse (MVP) in the general population, the actual burden, risk stratification, and treatment of the so-called arrhythmic MVP are unknown. The clinical profile is characterized by a patient, usually female, with mostly bileaflet myxomatous disease, mid-systolic click, repolarization abnormalities in the inferior leads, and complex ventricular arrhythmias with polymorphic/right bundle branch block morphology, without significant regurgitation. Among the various pathophysiologic mechanisms of electrical instability, left ventricular fibrosis in the papillary muscles and inferobasal wall, mitral annulus disjunction, and systolic curling have been recently described by pathological and cardiac magnetic resonance studies in sudden death victims and patients with arrhythmic MVP. In addition, premature ventricular beats arising from the Purkinje tissue as ventricular fibrillation triggers have been documented by electrophysiologic studies in MVP patients with aborted sudden death. The genesis of malignant ventricular arrhythmias in MVP probably recognizes the combination of the substrate (regional myocardial hypertrophy and fibrosis, Purkinje fibers) and the trigger (mechanical stretch) eliciting premature ventricular beats because of a primary morphofunctional abnormality of the mitral valve annulus. The main clinical challenge is how to identify patients with arrhythmic MVP (which imaging technique and in which patient) and how to treat them to prevent sudden death. Thus, there is a necessity for prospective multicenter studies focusing on the prognostic role of cardiac magnetic resonance and electrophysiologic studies and on the therapeutic efficacy of targeted catheter ablation and mitral valve surgery in reducing the risk of life-threatening arrhythmias, as well as the role of implantable cardioverter defibrillators for primary prevention.

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