|Year : 2018 | Volume
| Issue : 1 | Page : 37-41
Clinical and echocardiography features of diagnosed in adulthood isolated left ventricular noncompaction: A case series study
Wen-Hung Huang1, Kuo-Tzu Sung1, Jui-Peng Tsai2, Chi-In Lo1, Chih-Chung Hsiao1, Jen-Yuan Kuo3, Cheng-Huang Su3, Ming-Ren Chen4, Chung-Lieh Hung3
1 Department of Internal Medicine, Division of Cardiology, Mackay Memorial Hospital, Taipei, Taiwan
2 Department of Internal Medicine, Division of Cardiology, Mackay Memorial Hospital; Mackay Medicine Nursing and Management College; Department of Biomedical Imaging and Radiological Science, National Yang Ming University; Department of Medicine, Mackay Medical College, Taipei, Taiwan
3 Department of Internal Medicine, Division of Cardiology, Mackay Memorial Hospital; Department of Medicine, Mackay Medical College, Taipei, Taiwan
4 Department of Pediatrics, Division of Pediatric Cardiology, MacKay Children Hospital, Taipei, Taiwan
|Date of Submission||23-May-2017|
|Date of Acceptance||06-Jul-2017|
|Date of Web Publication||28-Mar-2018|
Dr. Ming-Ren Chen
Department of Pediatrics, Division of Pediatric Cardiology, MacKay Children Hospital, No. 92, Sec. 2, Zhongshan N. Road, Taipei
Source of Support: None, Conflict of Interest: None
Background: Left ventricular noncompaction cardiomyopathy (LVNC) is a primary genetic cardiomyopathy with morphologically unique characteristics, including loose “spongy” meshwork. Subjects carrying these disorders were typically presented with triad of heart failure, cardiac arrhythmias, and consequences of mural thrombi formation. The clinical and echocardiographic features regarding LVNC, however, are not widely known. Methods: A retrospective survey involving 11 patients who fulfilled echocardiographic criteria for LVNC defined by Jenni et al. was conducted at MacKay Memorial Hospital from January 2009 to March 2017. Parameters assessed by echocardiography and clinical data were further analyzed. Results: Significantly depressed left ventricular systolic function assessed by echocardiography was noticed in a majority of our adult study cases. Conclusion: Considering the fatal complications LVNC may lead to, it is essential for clinical cardiologists to early identify suspicious individuals, and the establishment of definitive criteria and early treatment is essential.
Keywords: Cardiomyopathy, echocardiography, heart failure, isolated left ventricular noncompaction
|How to cite this article:|
Huang WH, Sung KT, Tsai JP, Lo CI, Hsiao CC, Kuo JY, Su CH, Chen MR, Hung CL. Clinical and echocardiography features of diagnosed in adulthood isolated left ventricular noncompaction: A case series study. J Med Ultrasound 2018;26:37-41
|How to cite this URL:|
Huang WH, Sung KT, Tsai JP, Lo CI, Hsiao CC, Kuo JY, Su CH, Chen MR, Hung CL. Clinical and echocardiography features of diagnosed in adulthood isolated left ventricular noncompaction: A case series study. J Med Ultrasound [serial online] 2018 [cited 2020 May 28];26:37-41. Available from: http://www.jmuonline.org/text.asp?2018/26/1/37/228846
| Introduction|| |
Left ventricular noncompaction cardiomyopathy (LVNC) is a rare congenital disorder involving the arrest of myocardial compaction during the phase of fetal development. LVNC is typically featured by thickened and prominent trabeculations of myocardium, which is structurally comprised by a thin compacted layer and a noncompacted layer with deep intertrabecular recesses that communicate between ventricular cavity, forming a unique morphological trait as a distinct disease entity. LVNC can be familial, and several genes have been found to be related to the development of LVNC. As primarily genetic cardiomyopathy with heterogeneous traits, its diagnosis may be as early as in childhood in which population the outcomes may be better  or is associated with other coexisted congenital heart diseases. The term isolated left ventricular noncompaction (iLVNC) describes a specific clinical entity of isolated persistence of “sinusoids” and “spongy” form of myocardium without other concomitant structural anomalies.
While a series of research proposed that participants with iLVNC may experience poor prognosis with high clinical morbidity and mortality including heart failure, ventricular arrhythmia and thromboembolic events, early recognition of such disease entity, and possible therapeutic management may be helpful and evolving. Thus, high clinical index of suspicion for this disease is necessary, especially in patients with early-onset heart failure when diagnosed in early adult life. Echocardiography is the key tool for diagnosis, while three-dimensional echocardiography and cardiac magnetic resonance (CMR) have been reported to be helpful to identify LVNC. Herein, we reported clinical characters and echocardiographic features in 11 adult patients with iLVNC.
| Patients and Methods|| |
A retrospective survey was conducted at MacKay Memorial Hospital, currently a tertiary medical center located in Northern Taiwan, Taipei, during the observational study interval from January 2009 to March 2017. The study population comprised 11 adults diagnosed with fulfilled criteria of IVNC during the study observation period in their adult life. The definition employed in this study was based on echocardiographic criteria proposed by Jenni et al.: in the absence of co-existing congenital cardiac abnormality, the ratio of noncompacted myocardial layer to compacted layer at the end of systole is over 2, in addition to the blood in intertrabecular communicating with intraventricular cavity to be shown on color Doppler imaging.
The echocardiography equipment used in this study was the GE system (Vivid i, Vingmed, Horten, Norway) equipped with 2–4-MHz transducer. Standard echocardiography imaging protocol included M-mode based measurement of LA diameter, LV end-diastolic and systolic diameter, wall thickness, and LV mass calculation (the American Society of Echocardiography criteria). Clinical data, including age distribution, gender, clinical symptoms, electrocardiograms (ECGs) findings, and echocardiography parameters were collected (IRB number: 17MMHIS145).
| Results|| |
The clinical information and echocardiographic parameters are summarized in [Table 1] and [Table 2]. The age of study population mainly ranges from 40 to 60 years old (82%), and over 36% (4 out of 11) are in the New York Heart Association function Class III and higher. Eight reported patients (73%) were appearing symptoms of acute decompensated heart failure (exertional dyspnea) when being diagnosed with noncompaction cardiomyopathy. One patient (9%) presented with atypical chest tightness while the rest 2 (18%) were accidentally findings without specific cardiovascular-related symptoms. Except for two cases (case 4 and case 7) whose ECGs were normal, the remaining 9 cases' ECGs demonstrated abnormal findings: 2 cases (18%) showed sinus tachycardia; atrial fibrillation accounted for 2 study patients (18%); 2 cases (18%) had left bundle branch block; ST-T segment change was noticed in 3 cases; and premature ventricular contraction (PVC) was manifest in one case. Among the 11 study cases, 8 (73%) have undergone continuous ambulatory electrocardiography, all demonstrated PVC with one (9%) had recorded nonsustained ventricular tachycardia.
|Table 1: Baseline characteristics of 11 study participants in current case series|
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|Table 2: Echocardiography features of 11 study participants in current case series|
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The echocardiography demonstrated a dilated left ventricular internal diameter at end diastole in the majority of cases (all range: 52–73 mm), accompanied by impaired systolic function in terms of ejection fraction (all range: 16.1%–52.1%, 91% <50%) with only one patient within normal range. Among them, 5 patients (45%) were noticed to present with enlarged left atrium (range: 19–40 mm). Thickened interventricular septum (all range: 7–11 mm) and posterior wall (all range: 9–11 mm) were manifested in 55% (n = 6) and 64% (n = 7) of patients, respectively. Impaired diastolic dysfunction developed among all study patients with over a half (55%) who had Grade III or more severe diastolic dysfunctions and all cases presented with markedly lower myocardial relaxation velocity e'septal(normal range: 6.1–11.4 cm/s) and substantially elevated LV filling E/e'septum(normal range: 5.5–14.3). No ventricular thrombus was detected by transthoracic echocardiography in all cases. Of note, we observed a slightly higher prevalence of significant (defined as moderate-to-severe degree) valvular disorders (mainly aortic regurgitation), and higher averaged estimated systolic pulmonary artery pressure (mean 44.9 mmHg), possibly reflecting chronicity of elevated LA pressure.
| Discussion|| |
The clinical manifestations of isolated left ventricular noncompaction
According to our data, although LVNC seems to be male predominant, there is a trend that female patients tend to become symptomatic in younger age. Patients with LVNC can have a variety of clinical manifestations. At the time of diagnosis, the majority of cases (73%) presented with overt symptoms of acute decompensated heart failure, while atypical or silent presentation also existed in our study. Meanwhile, 36% of study patients had heart failure of function Class III and Class IV. Our results are consistent with a 34-case research conducted by Oechslin et al. with 27 patients (79%) presenting dyspnea and 12 (35%) in the New York Heart Association (NYHA) function Class III and worse. ECG findings are mostly abnormal with frequency of 73% in our cases, a bit lower than other similar study ranging from 88% to 94% to be found with abnormal ECG. Clinical characteristics of adult patients with LVNC from our data and another three studies are presented in [Table 3]. There were no specific ECG findings associated with LVNC except for PVC in the current case series, which appeared in all continuous ambulatory electrocardiography results.
|Table 3: Adult patients with left ventricular noncompaction cardiomyopathy|
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Diagnostic imaging for isolated left ventricular noncompaction
The echocardiography findings were characterized by dilated diastolic diameter of LV, reduced ejection fraction, and diastolic dysfunction. Compromised LV systolic function appeared in all our study cases as initial presentation with 73% developed overt heart failure. With similar age group, a retrospective study involving 62 patients diagnosed with LVNC conducted by Stöllberger et al. demonstrated similar results with 73% of study cases having congestive heart failure. Compared to the relatively lower proportion of heart failure in pediatric group, these results indicate a progressive nature and impact of LVNC on cardiac function: with morphological presentation of LVNC at birth, manifested as systolic and diastolic dysfunctions with increasing age, and eventually heart failure as a more prevalent phenotype in adult life.
Despite the fact that the gold standard for diagnostic criteria has not been established, echocardiography still plays a major role in diagnosis for LVNC. Several echocardiographic criteria have been proposed [Table 4]. In general, it requires two modes of echocardiographic images to make the diagnosis: two-dimensional echocardiography to detect the morphologic characteristics of “spongy”, and prominent “non-compacted” myocardium [Figure 1], and color Doppler to prove the connection between ventricular cavity and deep recesses [Figure 2]. However, there are various limitations regarding morphological interpretation using echocardiography, including improper visualization of apex, which is where the most prominent trabecula are, and more importantly, difficulty in differentiating “hypertrabeculation” from trabeculae of aberrant bands, false tendons, abnormal insertion of papillary muscles, given their phenotypic overlapping. Therefore, supplemental use of cardiac MRI for those suspected diagnoses made by echocardiography is occasionally recommended. The criteria for diagnosis by CMR are shown in table [Table 5]. Furthermore, despite the advanced quality of echocardiography equipment with more clear and better visualization of ventricular trabecula than before, the differentiation between normal and pathologic hypertrabeculation remain technically difficult. The current diagnostic criteria, no matter made by echocardiography or CMR, are simply morphological descriptions without functional assessment, making establishment of the diagnosis more uncertain and challenging, leading to potential misdiagnosis. Thus, installation of an integrated clinical criterion for diagnosis is a critical mission in the future.
|Figure 1: Echocardiography of a patient with isolated left ventricular noncompaction illustrating prominent trabeculations of myocardium involving apical and mid ventricular region on apical two chamber view|
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|Figure 2: Color Doppler demonstrating blood flow directly connecting ventricular cavity and deep recesses in a patient with isolated left ventricular noncompaction|
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Clinical outcomes of isolated left ventricular noncompaction
The major complications of advanced LVNC include heart failure, ventricular arrhythmias and thromboembolic events. The mortality ranges from 7% to 47% among various research, which overall, was shown without significantly different compared with nonischemic dilated cardiomyopathy. Previous studies have discovered that, in adult group, poor prognosis is associated with more enlarged diastolic diameter of LV, decreased global ventricular ejection fraction, advanced heart failure (NYHA III–IV) at initial presentation, existence of persistent/permanent atrial fibrillation, and bundle branch block. In spite of that, the consensus regarding the timing of the initiation of primary prevention (e.g., implantable cardioverter–defibrillator implantation) or assessment for transplant has yet to be determined. In our current series, all our patients who undergone continuous ambulatory electrocardiography examination appeared to have PVCs, while none of them had previous ventricular arrhythmia history. It has been known that LVNC is associated with increasing incidence of ventricular arrhythmia and resulting sudden death; thus, annual check of atrial and ventricular arrhythmias by continuous ambulatory electrocardiography is essential. The application of anti-arrhythmia agents and prevention devises regarding lethal arrhythmias based on international guidelines is advised.
Systemic embolic events developed in around a quarter to one-third patients with LVNC. It is believed to be related to reduced systolic function of LV and the thrombogenic feature of deep intertrabecular recesses. Whether anticoagulants should be administered to every LVNC patients is, however, still debated. Our patients have not yet been found with any thromboembolic complications during follow-up period, and only 2 patients, who concurrently have persistent or permanent atrial fibrillation, are undergoing anticoagulation therapy. A long-term follow-up is needed to disclose the necessity of anticoagulation therapy.
| Conclusion|| |
LVNC is a distinct cardiomyopathy related to heart failure, ventricular arrhythmia, and thromboembolic events. Although various diagnostic tools, including echocardiography, three-dimensional echo, and CMR, have been utilized to identify LVNC, the definitive diagnostic criteria have yet to established. With poor prognosis, it is essential for clinical cardiologist to early detect this disease.
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Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2]
[Table 1], [Table 2], [Table 3], [Table 4], [Table 5]