Genetic and Developmental Disorders: Genetic Disorders |

A Rare Case of Left Ventricular Non-Compaction Cardiomyopathy FREE TO VIEW

Jeffrey Le, BA; Shelly Brejt, MD; Sameer Chadha, MBBS; Nadine Montemarano, MD; Joshua Kerstein, MD; Jacob Shani, MD
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Maimonides Medical Center, New York, NY

Copyright 2016, American College of Chest Physicians. All Rights Reserved.

Chest. 2016;149(4_S):A244. doi:10.1016/j.chest.2016.02.254
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SESSION TITLE: Genetic Disorders

SESSION TYPE: Case Report Slide

PRESENTED ON: Saturday, April 16, 2016 at 02:15 PM - 03:45 PM

INTRODUCTION: Left Ventricular Non-Compaction Cardiomyopathy (LVNCC) is a rare myocardial disorder which results from failure of left ventricle to compact in embryogenesis. It is characterized by a two-layered ventricular wall, an outer compacted epicardial layer and an inner non-compacted layer composed of prominent trabeculations and deep inter-trabecular recesses which communicate with LV cavity.

CASE PRESENTATION: A 44 year old male with history of dilated cardiomyopathy s/p AICD presented to our ER with complaints of SOB, dry cough, and leg edema. Patient reportedly stopped taking his Lasix two weeks ago. Exam was significant for elevated JVD, mild crackles and pedal edema. Labs showed elevated troponin (0.41 ng/ml) and BNP (1771 pg/ml). Echocardiogram revealed severely decreased LV systolic function (EF <10%) with severely dilated LV cavity, severe diastolic dysfunction, prominent LV trabeculations, and deep inter-trabecular recesses communicating with the LV cavity, consistent with LVNCC (Fig. 1). Patient was initiated on diuretics and an aldosterone antagonist, added to his regimen of beta blocker and ACE inhibitor, started on IV heparin, and subsequently bridged to Coumadin for anti-coagulation for low EF. He was discharged in stable condition to follow up with advanced heart failure for Cardiac Transplant and LVAD evaluation.

DISCUSSION: LVNCC was first reported in 1932 in association with other congenital cardiac abnormalities (1). It is a genetically heterogeneous disorder with familial and sporadic forms and can be linked to mutations in mitochondrial, cytoskeletal, Z-line, and sarcomeric proteins. Reported prevalence of LVNCC varies considerably and is estimated to be between 0.014 and 1.3%, however, the true prevalence is unknown as it is often unrecognized. Patients usually present with heart failure, ventricular arrhythmias or systemic embolic events. Echocardiography is the first line imaging modality and diagnostic criteria include end-systolic ratio of non-compacted layer/compacted layer >2 and evidence of blood flow in intertrabecular recesses from the LV cavity on Color Doppler Imaging, in the absence of other cardiac abnormalities. The Cardiac MRI may be used for confirmation of the diagnosis. Treatment consists of standard heart failure therapy, management of arrhythmias and consideration of oral anti-coagulation in high risk patients to prevent systemic embolic complications. Due to high familial recurrence, genetic testing of affected individuals and screening of first-degree family members is also recommended.

CONCLUSIONS: Still considered a novel entity, LVNCC is getting increasingly recognized because of heightened awareness and improved cardiac imaging modalities and physicians should be aware of this rare cardiomyopathy.

Reference #1: Bellet S, Gouley BA. Congenital heart disease with multiple cardiac anomalies: report of a case showing aortic atresia, fibrous scar in myocardium and embryonal sinusoidal remains, Am J Med Sci. 1932, 183:458-65.

DISCLOSURE: The following authors have nothing to disclose: Jeffrey Le, Shelly Brejt, Sameer Chadha, Nadine Montemarano, Joshua Kerstein, Jacob Shani

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