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Case Report
Open Access Peer-reviewed

Non-Compaction Cardiomyopathy Presented with Atrial Fibrillation: A Case Report and Literature Review

Tian Li, Leonel Mendoza, Wesley Chan, Isabel M. McFarlane
American Journal of Medical Case Reports. 2020, 8(9), 281-283. DOI: 10.12691/ajmcr-8-9-7
Received April 20, 2020; Revised May 22, 2020; Accepted May 29, 2020

Abstract

Background: Left ventricular non-compaction cardiomyopathy (LVNC) is a rare congenital cardiomyopathy characterized by increased trabeculation in one or more segments of the ventricle. LVNC presented with non-specific symptoms and highly variable clinical presentation ranging from asymptomatic to progressive heart failure and recurrent or life-threatening arrhythmias. Case presentation: 54-year-old Black man with a history of hypertension, diabetes and end-stage renal disease presented with one day palpitations and lightheadedness following a dialysis session. He denied any dyspnea or syncope. On examination, blood pressure was 175/91 mmHg with irregular pulse. No murmur, rubs or gallops were appreciated. Laboratory were unremarkable except increased creatinine and mild anemia with normal thyroid function test. Electrocardiogram (ECG) revealed atrial fibrillation with normal ventricular rate. Transthoracic echocardiogram revealed mildly increased left ventricular (LV) wall thickness with prominent trabeculation and ejection fraction of 55-60 percent, a pseudo-normal LV filling pattern, with concomitant abnormal relaxation and increased filling pressure, suggestive of LVNC. The patient was switched to apixaban. Genetic testing was recommended for family members. Conclusions: LVNC is rare congenital cardiomyopathy with non-specific symptoms and should be considered among the possible diagnosis in patients presenting with arrythmia patients. Echocardiographic and cardiac magnetic resonance imaging can be utilized to establish diagnosis.

1. Introduction

LVNC, a rare congenital cardiomyopathy, is characterized by prominent trabeculae, deep intertrabecular recesses, and thickened myocardium with two distinct layers (compacted and noncompacted) 1. LVNC is encountered in 0.045% to 0.26% of adult patients referred for echocardiographic examinations and 0.01% to 1.3% in the general population with a male predominance 2. The rate of familial involvement appears to vary from 18 to 33% 3. Mutations in several genes with different inheritance patterns has been found related to LVNC, with MYH7 and MYBPC 3 genes estimated to cause up to 30 percent of cases. Most of the genes are involved in sarcomeric or cytoskeletal protein productions. The following vignette highlights a case of LVNC initially presented with atrial fibrillation.

2. Case Report

A 54-year-old Black Male with a history of hypertension, diabetes and end-stage renal disease presented with one day history of palpitations and lightheadedness following a dialysis session. Patient has never had palpations in the past, denied chest pain, lightheadedness, shortness of breath, syncope. Family history was negative for arrythmias or sudden cardiac death. No significant social history was appreciated. On physical exam, BP was 175/91 mmHg with irregular heart rate 65-72 bpm. Cardiovascular exam showed irregular pulse with no murmur, rubs or gallops appreciated. Laboratory was unremarkable except creatinine 9.2 mg/dL(normal range 0.7-1.3 mg/dL), hemoglobin 11g/dL with normal thyroid function test. [Table 1] Electrocardiogram showed atrial fibrilization with a ventricle rate of 76 bpm [Figure 1]. Heparin drip was initiated initially. Later, 2D-transthoracic echocardiogram revealed mildly increased left ventricular (LV) wall thickness with prominent trabeculation and ejection fraction of 55-60 percent, a pseudo-normal LV filling pattern, with concomitant abnormal relaxation and increased filling pressure [Figure 2]. The spongiform appearance of LV was suggestive for non-compaction cardiomyopathy and considered as the possible etiology for arrythmia. The patient was switched to apixaban for outpatient treatment. Genetic testing and echocardiogram was recommended for first-degree relatives to rule out a familial variant. Further follow-ups are scheduled.

3. Discussion

LVNC describes a LV wall anatomy characterized by the presence of three key morphologic elements- prominent trabeculae, a thin compacted layer, and intertrabecular recesses that are continuous with the LV cavity and separated from the epicardial coronary arteries 4. Noncompaction can affect both ventricles or the right ventricle only. LVNC can be regarded as an isolated entity or as some of the traits that may recur in cardiac and noncardiac disease 5.

The clinical presentations are highly variable, ranging from asymptomatic to progressive heart failure and recurrent or life-threatening arrhythmias. Ventricular and supraventricular arrhythmias are prominent clinical components of LVNC, including atrial fibrillation (adult), atrioventricular accessory pathways/ Wolff-Parkinson- White syndrome(children) and ventricular tachycardia 6.

No ECG findings were thought to be specific for LVNC. Diagnosis is usually established by identifying morphologic diagnostic criteria on echocardiography with Jenni criteria 7, 8, 9, 10 being the most commonly used criteria with the aid of cardiovascular magnetic resonance imaging 11, 12, 13 measuring ratios between noncompacted (NC) and compacted(C) layers of the LV wall(NC/ C ratio usually ≥ 2) when echocardiography findings are inconclusive 10. [Table 2]

A serial clinical evaluation and symptom monitor were recommended for LVNC patients. For patient develop heart failure symptoms or asymptomatic LV systolic dysfunction, treatment should adhere the standard treatment. However, some managements are unique to LVNC patients, including anticoagulation due to increased risk of thromboembolism and primary prevention of sudden cardiac death (SCA). Patient with atrial fibrillation should be on anticoagulation if they meet standard criteria for anticoagulation. The risk of sudden death are associated with LV size, systolic function and presence of arrhythmias 6. Implantable cardioverter-defibrillator was warranted for LVNC patients with ejection fraction less than 35 percent and New York Heart Association class II to III heart failure as primary prevention and patients who survive an episode of sustained ventricular tachycardia or SCA as secondary prevention 14.

LVNC is associated with high rates of morbidity and mortality with adverse prognostic factors being low ejection fraction, severe disease at presentation and other comorbidities. Genetic evaluation, including both counseling and genetic testing, is recommended for patients with LVNC and first-degree relatives.

Acknowledgements

This work is supported in part by Dr. Moro O. Salifu’s efforts through NIH Grant # S21MD012474.

References

[1]  Stanton C, Bruce C, Connolly H, Brady P, Syed I, Hodge D, Asirvatham S, Friedman P: Isolated left ventricular noncompaction syndrome. Am J Cardiol 2009, 104(8): 1135-1138.
In article      View Article  PubMed
 
[2]  Kubik M, Dabrowska-Kugacka A, Lewicka E, Danilowicz-Szymanowicz L, Raczak G: Predictors of poor outcome in patients with left ventricular noncompaction: Review of the literature. Adv Clin Exp Med 2018, 27(3): 415-422.
In article      View Article  PubMed
 
[3]  Sarma RJ, Chana A, Elkayam U: Left ventricular noncompaction. Prog Cardiovasc Dis 2010, 52(4): 264-273.
In article      View Article  PubMed
 
[4]  Jenni R, Oechslin EN, van der Loo B: Isolated ventricular non-compaction of the myocardium in adults. Heart 2007, 93(1): 11-15.
In article      View Article  PubMed
 
[5]  Arbustini E, Favalli V, Narula N, Serio A, Grasso M: Left Ventricular Noncompaction: A Distinct Genetic Cardiomyopathy? J Am Coll Cardiol 2016, 68(9): 949-966.
In article      View Article  PubMed
 
[6]  Miyake CY, Kim JJ: Arrhythmias in left ventricular noncompaction. Card Electrophysiol Clin 2015, 7(2): 319-330.
In article      View Article  PubMed
 
[7]  Jenni R, Oechslin E, Schneider J, Jost CA, Kaufmann PA: Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy. Heart 2001, 86(6): 666-671.
In article      View Article  PubMed
 
[8]  Stollberger C, Gerecke B, Finsterer J, Engberding R: Refinement of echocardiographic criteria for left ventricular noncompaction. Int J Cardiol 2013, 165(3): 463-467.
In article      View Article  PubMed
 
[9]  Gebhard C, Stahli BE, Greutmann M, Biaggi P, Jenni R, Tanner FC: Reduced left ventricular compacta thickness: a novel echocardiographic criterion for non-compaction cardiomyopathy. J Am Soc Echocardiogr 2012, 25(10): 1050-1057.
In article      View Article  PubMed
 
[10]  Zuccarino F, Vollmer I, Sanchez G, Navallas M, Pugliese F, Gayete A: Left ventricular noncompaction: imaging findings and diagnostic criteria. AJR Am J Roentgenol 2015, 204(5): W519-530.
In article      View Article  PubMed
 
[11]  Petersen SE, Selvanayagam JB, Wiesmann F, Robson MD, Francis JM, Anderson RH, Watkins H, Neubauer S: Left ventricular non-compaction: insights from cardiovascular magnetic resonance imaging. J Am Coll Cardiol 2005, 46(1): 101-105.
In article      View Article  PubMed
 
[12]  Jacquier A, Thuny F, Jop B, Giorgi R, Cohen F, Gaubert JY, Vidal V, Bartoli JM, Habib G, Moulin G: Measurement of trabeculated left ventricular mass using cardiac magnetic resonance imaging in the diagnosis of left ventricular non-compaction. Eur Heart J 2010, 31(9): 1098-1104.
In article      View Article  PubMed
 
[13]  Grothoff M, Pachowsky M, Hoffmann J, Posch M, Klaassen S, Lehmkuhl L, Gutberlet M: Value of cardiovascular MR in diagnosing left ventricular non-compaction cardiomyopathy and in discriminating between other cardiomyopathies. Eur Radiol 2012, 22(12): 2699-2709.
In article      View Article  PubMed
 
[14]  Towbin JA, McKenna WJ, Abrams DJ, Ackerman MJ, Calkins H, Darrieux FCC, Daubert JP, de Chillou C, DePasquale EC, Desai MY et al: 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy. Heart Rhythm 2019, 16(11): e301-e372.
In article      View Article  PubMed
 

Published with license by Science and Education Publishing, Copyright © 2020 Tian Li, Leonel Mendoza, Wesley Chan and Isabel M. McFarlane

Creative CommonsThis work is licensed under a Creative Commons Attribution 4.0 International License. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/

Cite this article:

Normal Style
Tian Li, Leonel Mendoza, Wesley Chan, Isabel M. McFarlane. Non-Compaction Cardiomyopathy Presented with Atrial Fibrillation: A Case Report and Literature Review. American Journal of Medical Case Reports. Vol. 8, No. 9, 2020, pp 281-283. http://pubs.sciepub.com/ajmcr/8/9/7
MLA Style
Li, Tian, et al. "Non-Compaction Cardiomyopathy Presented with Atrial Fibrillation: A Case Report and Literature Review." American Journal of Medical Case Reports 8.9 (2020): 281-283.
APA Style
Li, T. , Mendoza, L. , Chan, W. , & McFarlane, I. M. (2020). Non-Compaction Cardiomyopathy Presented with Atrial Fibrillation: A Case Report and Literature Review. American Journal of Medical Case Reports, 8(9), 281-283.
Chicago Style
Li, Tian, Leonel Mendoza, Wesley Chan, and Isabel M. McFarlane. "Non-Compaction Cardiomyopathy Presented with Atrial Fibrillation: A Case Report and Literature Review." American Journal of Medical Case Reports 8, no. 9 (2020): 281-283.
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  • Figure 2. Echocardiogram demonstrated mildly increased left ventricular wall thickness with prominent trabeculation[red arrow], ejection fraction of 55-60% and a pseudo-normal left ventricular filling pattern, with concomitant abnormal relaxation and increased filling pressure
[1]  Stanton C, Bruce C, Connolly H, Brady P, Syed I, Hodge D, Asirvatham S, Friedman P: Isolated left ventricular noncompaction syndrome. Am J Cardiol 2009, 104(8): 1135-1138.
In article      View Article  PubMed
 
[2]  Kubik M, Dabrowska-Kugacka A, Lewicka E, Danilowicz-Szymanowicz L, Raczak G: Predictors of poor outcome in patients with left ventricular noncompaction: Review of the literature. Adv Clin Exp Med 2018, 27(3): 415-422.
In article      View Article  PubMed
 
[3]  Sarma RJ, Chana A, Elkayam U: Left ventricular noncompaction. Prog Cardiovasc Dis 2010, 52(4): 264-273.
In article      View Article  PubMed
 
[4]  Jenni R, Oechslin EN, van der Loo B: Isolated ventricular non-compaction of the myocardium in adults. Heart 2007, 93(1): 11-15.
In article      View Article  PubMed
 
[5]  Arbustini E, Favalli V, Narula N, Serio A, Grasso M: Left Ventricular Noncompaction: A Distinct Genetic Cardiomyopathy? J Am Coll Cardiol 2016, 68(9): 949-966.
In article      View Article  PubMed
 
[6]  Miyake CY, Kim JJ: Arrhythmias in left ventricular noncompaction. Card Electrophysiol Clin 2015, 7(2): 319-330.
In article      View Article  PubMed
 
[7]  Jenni R, Oechslin E, Schneider J, Jost CA, Kaufmann PA: Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy. Heart 2001, 86(6): 666-671.
In article      View Article  PubMed
 
[8]  Stollberger C, Gerecke B, Finsterer J, Engberding R: Refinement of echocardiographic criteria for left ventricular noncompaction. Int J Cardiol 2013, 165(3): 463-467.
In article      View Article  PubMed
 
[9]  Gebhard C, Stahli BE, Greutmann M, Biaggi P, Jenni R, Tanner FC: Reduced left ventricular compacta thickness: a novel echocardiographic criterion for non-compaction cardiomyopathy. J Am Soc Echocardiogr 2012, 25(10): 1050-1057.
In article      View Article  PubMed
 
[10]  Zuccarino F, Vollmer I, Sanchez G, Navallas M, Pugliese F, Gayete A: Left ventricular noncompaction: imaging findings and diagnostic criteria. AJR Am J Roentgenol 2015, 204(5): W519-530.
In article      View Article  PubMed
 
[11]  Petersen SE, Selvanayagam JB, Wiesmann F, Robson MD, Francis JM, Anderson RH, Watkins H, Neubauer S: Left ventricular non-compaction: insights from cardiovascular magnetic resonance imaging. J Am Coll Cardiol 2005, 46(1): 101-105.
In article      View Article  PubMed
 
[12]  Jacquier A, Thuny F, Jop B, Giorgi R, Cohen F, Gaubert JY, Vidal V, Bartoli JM, Habib G, Moulin G: Measurement of trabeculated left ventricular mass using cardiac magnetic resonance imaging in the diagnosis of left ventricular non-compaction. Eur Heart J 2010, 31(9): 1098-1104.
In article      View Article  PubMed
 
[13]  Grothoff M, Pachowsky M, Hoffmann J, Posch M, Klaassen S, Lehmkuhl L, Gutberlet M: Value of cardiovascular MR in diagnosing left ventricular non-compaction cardiomyopathy and in discriminating between other cardiomyopathies. Eur Radiol 2012, 22(12): 2699-2709.
In article      View Article  PubMed
 
[14]  Towbin JA, McKenna WJ, Abrams DJ, Ackerman MJ, Calkins H, Darrieux FCC, Daubert JP, de Chillou C, DePasquale EC, Desai MY et al: 2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy. Heart Rhythm 2019, 16(11): e301-e372.
In article      View Article  PubMed