Dataset Information

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

ABSTRACT: 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.

SUBMITTER: Balla C

PROVIDER: S-EPMC8468736 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature

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

Balla Cristina C De Raffele Martina M Deserio Maria Angela MA Sanchini Mariabeatrice M Farnè Marianna M Trabanelli Cecilia C Ragni Luca L Biffi Mauro M Ferlini Alessandra A Rapezzi Claudio C Gualandi Francesca F Bertini Matteo M

Journal of cardiovascular development and disease 20210909 9

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 a ...[more]

PMID: 34564127

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Project description:BackgroundLeft 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 presentationA 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.ConclusionsLeft 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.

Project description:BackgroundCoronary venous ethanol ablation (VEA) can be used as a strategy to treat ventricular arrhythmias arising from the left ventricular summit, but collateral flow and technical challenges cannulating intramural veins in complex venous anatomies can limit its use. Advanced techniques for VEA can capitalize on collateral vessels between target and nontarget sites to improve success.MethodsOf 55 patients with left ventricular summit ventricular arrhythmia, advanced techniques were used in 15 after initial left ventricular summit intramural vein mapping failed to show suitable targets for single vein, single-balloon VEA. All patients had previous radiofrequency ablation attempts. Techniques included: double-balloon for distal protection to block distal flow and target the proximal portion of a large intramural vein where best signal was proximal (n=6); balloons in 2 different left ventricular summit veins for a cross-fire multivein VEA (n=4); intramural collateral vein-to-vein cannulation to reach of targeted vein via collateral with antegrade ethanol and proximal balloon block (n=2); prolonged ethanol dwell time for vein sclerosis of large intramural vein and subsequent VEA (n=3); and intramural collateral VEA (n=1).ResultsFifteen (8 females) patients (age 60.6±17.6 years) required advanced techniques. Procedure time was 210±49.9 minutes, fluoroscopy time was 25.3±14.1 minutes, and 113±17.9 cc of contrast was utilized. A median of 7 cc of ethanol was delivered (range, 4-15 cc). Intraprocedural radiofrequency ablation was delivered before ethanol in 9 out of 15 patients but failed. Ethanol achieved acute success in all 15 patients. Ethanol was used as the sole treatment in two patients. At a median follow-up of 194 days, one patient experienced recurrence.ConclusionsAdvanced techniques capitalizing on venous anatomy can enable successful VEA and selective targeting of arrhythmogenic sites, by blocking distal flow, utilization of collaterals between nontarget and target veins and multivein VEA. Understanding individual anatomy is critical for VEA success.

Dataset Information

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

Publications

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

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