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Left ventricular noncompaction: a rare finding
Session:
Sessão Speaker’s Corner - Casos clínicos desafiantes… em Miocardiopatias
Speaker:
Isabel Cruz
Congress:
CPC 2022
Topic:
D. Heart Failure
Theme:
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Subtheme:
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Session Type:
Sessão de Casos Clínicos
FP Number:
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Authors:
Isabel Martins da Cruz; Inês Oliveira; Bruno Bragança; Rafaela Lopes; Rui Santos; Conceição Queirós; Aurora Andrade
Abstract
<p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif">We present the case of a patient with <span style="color:black">left ventricular noncompaction</span> (LVNC), an uncommon entity, particulary in combination with congenital heart defect (CHD).</span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif">A 47 years old man was referred to the Cardiology appointment due to hearth failure (HF) with reduced left ventricular ejection fraction (LVEF). At physical examination he presented <span style="background-color:white"><span style="color:black">good general condition, arterial blood pressure of 100/70mmHg and normal cardiac and pulmonary auscultation. Normal blood analysis. Electrocardiogram showed sinus rhythm (SR) and nonspecific ST-T segment changes. T</span></span>ransthoracic echocardiogram (TTE) revealed biatrial enlargement, severely reduced LVEF, preserved right ventricular systolic function (RVSF) and presence of ostium secundum atrial septal defect (ASD), with left to right shunt. The patient was prescribed with ACE inhibitor, beta-blocker and mineralocorticoid receptor antagonist. <span style="background-color:white"><span style="color:black">A cardiac catheterization showed no epicardial coronary artery disease and a Qp/Qs ratio of 1,8/1. </span></span>He presented<span style="background-color:white"><span style="color:black"> clinical improvement and partial recovery of LVEF after 6 months. He was latter submitted to surgical closure of the interatrial communication with a pericardial patch. Due to the frequent premature ventricular beats in a 24-hour Holter an exercise stress test was performed being interrupted due to episodes of non-sustained ventricular tachycardia (VT). An electrophysiological study revealed premature ventricular contractions located at the right coronary sinus. Successful ablation was not obtained, and the patient was prescribed with sotalol 160mg twice daily without recurrence of VT. A cardiac magnetic resonance imaging for better characterization of myocardium revealed LVEF of 52%, hypokinesia of medial and distal segments of the lateral ventricular wall and prominent ventricular trabeculations (ratio of 2.3 in end-diastole). Due to suspicious of LVNC</span></span> a genetic testing was requested and <span style="background-color:white"><span style="color:black">detected a probable pathogenic heterozygotic variant of titin gene (c.72216_72217delp.Asn24072Lysfs*10). </span></span>Diagnosis of LVNC associated with CHD was made. </span></span></p> <p style="text-align:justify"><span style="font-size:11pt"><span style="font-family:Calibri,sans-serif">LVNC is usually diagnosed at early stages of life. However, a few cases are diagnosed at an older age, <span style="background-color:white"><span style="color:#201f1e">through </span></span><span style="background-color:white"><span style="color:#201f1e">multimodality imaging combined with genetic testing. It </span></span><span style="background-color:white"><span style="color:black">may be an isolated finding or </span></span><span style="background-color:white"><span style="color:#201f1e">part of a more complex cardiac disease </span></span><span style="color:inherit">with overlapping features of other cardiomyopathies or associated with CHD, such as ASD. </span>The purpose of this case is to remind that <span style="color:inherit">although</span> <span style="color:inherit">uncommon, cardiomyopathies may course with CHD and to</span> <span style="color:inherit">highlight the importance of imaging in the diagnosis.</span> </span></span></p>
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