Ventricular Noncompaction Cardiomyopathy Research Articles

Whole-exome sequencing revealed a novel Troponin T2 in a pediatric patient with severe isolated left ventricular noncompaction cardiomyopathy.

Whole-exome sequencing revealed a novel Troponin T2 in a pediatric patient with severe isolated left ventricular noncompaction cardiomyopathy.

(783) LVAD as a Bridge to Candidacy in a Patient with Left Ventricular Noncompaction Cardiomyopathy Complicated by RHF

(783) LVAD as a Bridge to Candidacy in a Patient with Left Ventricular Noncompaction Cardiomyopathy Complicated by RHF

Value of cardiac magnetic resonance feature tracking technology in the differential diagnosis of isolated left ventricular noncompaction and dilated cardiomyopathy.

This study explored the value of myocardial strain in the differential diagnosis of isolated left ventricular myocardial noncompaction (ILVNC) and dilated cardiomyopathy (DCM) using cardiac magnetic resonance (CMR) feature tracking technology. This retrospective analysis was performed on consecutive patients (25 with ILVNC, 30 with DCM, and 30 healthy controls) presenting to Shanxi Cardiovascular Hospital. All ILVNC patients met echocardiographic and CMR criteria for ventricular non-compaction. All patients with DCM met the 2016 American Heart Association and 2018 Chinese Medical Association Cardiovascular Branch diagnostic criteria. cvi42 software (Circle Cardiovascular Imaging) was used to measure radial, circumferential, and longitudinal strain (LS) globally and in segments of the left ventricle. Analysis of variance was used to compare strains among groups and among different segments within the same group. Receiver operating characteristic (ROC) curves were used to evaluate the diagnostic efficacy of different parameters in ILVNC and DCM. Basal circumferential strain was lower in the DCM than in the ILVNC group (P=0.05). Both median and apical LS were lower in the ILVNC than in DCM group (P=0.02 and P=0.01, respectively). ROC curves showed that apical LS was the most effective in distinguishing ILVNC from DCM [area under the curve (AUC) =0.883; P<0.001; 95% CI: 0.850-0.977]. Comparing strains among different segments within the same group revealed that in DCM, the circumferential and LS of the apex were higher than those of the basal segment, which is consistent with the pattern in healthy controls; however, has no such regular pattern was seen in ILVNC. Myocardial strain parameters are of considerable value in the differential diagnosis of ILVNC and DCM. Differences in patterns between ILVNC and DCM can be sensitively identified, providing more comprehensive information for early clinical diagnosis.

A novel loss-of-function mutation in NRAP is associated with left ventricular non-compaction cardiomyopathy.

The nebulin-related-anchoring protein (NRAP) gene encodes actin-associated ankyrin. Few studies reported the association of the NRAP gene with cardiomyopathy. Thus, the genetic role of this gene in cardiomyopathy remains to be investigated. The clinical data of the rare case of left ventricular non-compaction (LVNC) were collected and analyzed. Whole-exome sequencing (WES) was performed on related family members. Western blot was used to detect the effect of mutation on the NRAP protein expression. The effect of the c.259delC variant on myocardial development was further evaluated in a zebrafish model. A novel homozygous frameshift mutation c.259delC of NRAP was found in the proband with LVNC. It was found that c.259delC decreased the expression of NRAP by Western blot. In the zebrafish model, the heart development was affected while knocking out the NRAP gene, which showed pericardial edema. The pathological manifestations were uneven hypertrophy, disordered arrangement of cardiomyocytes, enlarged intercellular space, and loose muscle fibers. RNA-sequencing (RNA-seq) showed that the expression of genes related to heart development decreased significantly, and the NRAP gene mutation could participate in biological processes (BPs) such as myocardial contraction, cell adhesion, myosin coarse filament assembly of striated muscle, myosin complex composition, and muscle α-actin binding. We identified a rare case of LVNC associated with a novel homozygous NRAP frameshift variant. This study further strengthened the evidence linking mutations in the NRAP gene with LVNC, providing a new clue for further study of LVNC. NRAP may be one of the pathogenic genes of cardiomyopathy.

Acrofacial dysostosis with microtia-anotia: Nager syndrome in reconstructive plastic surgery

<br>Microtia-anotia is a congenital anomaly of the ear encountered commonly by a plastic and reconstructive surgeon. Although it may be seen as an isolated condition, microtia-anotia may be part of a syndrome such as mandibulofacial synostosis. A very rare condition however is the preaxial acrofacial synostosis, or Nager syndrome (NS), with which the plastic and reconstructive surgeon may not be familiar. Less than 100 NS cases have been reported to date, mostly including major mandibulofacial anomalies. We hereby report the first case from the Mediterranean region of a late microtia-anotia exhibiting specific anomalies resembling a mild form of NS. Through systemic examination, we also identified in combination a cardiac anomaly (ventricular noncompaction cardiomyopathy) that has not been previously linked to this syndrome in the literature, hence the first report of this cardiac anomaly in NS.<br><b>Level of Evidence:</b> Level IV, case report.<br>

The Year in Hungarian Cardiology 2022: Heart failure and cardiomyopathies

In the year 2022 a large number of remarkable scientific papers were published in the field of heart failure and heart muscle disease, to which the Hungarian Heart Failure community contributed with influential scientific activity. Results of landmark randomized clinical trials were published, and in recognition of the clinical and scientific activity of the Hungarian centers, notable activity was also demonstrated publishing these studies. In the field of cardiomyopathies several novel results were published in 2022. In connection with hypertrophic cardiomyopathy (HCM) a landmark paper described the genetic architecture of the affected Hungarian population. An editorial comment was published in a highly ranked journal describing the myosin motor inhibition concept. An interesting paper about a retrospective analysis of cardiac amyloidosis patients, and MR specific differences between left ventricular noncompaction and dilated cardiomyopathy was published. Severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2) was an ongoing pandemic in 2022 resulting in millions of deaths worldwide, affecting the heart of as much as 20–25% of those infected and causing several cardiac complications. Studies were published about the screening for myocardial injury and about the immunological response on disease itself and the vaccination against the virus. A joint scientific statement by the ESC also dealt with this topic. An impressive study was published about the prognostic value of anemia in patients with preserved, and mildly reduced and recovered ejection fraction and about the feasibility of baroreflex sensitivity measurements in heart failure subjects. In relation to drug therapy, a study is also worth mentioning about the cardiac efficacy and overall safety of SGLT2 inhibitors in patients treated with anthracyclines, and a network meta-analysis of randomized trials, analyzing the cardiovascular outcomes in patients treated with gliflozins. Finally, a focused issue of Cardiologia Hungarica on heart failure and myocardial diseases should be highlighted.

P180: Biallelic loss-of function variants in LDB3 deleting the long form of the protein lead to neonatal left ventricular noncompaction cardiomyopathy

P180: Biallelic loss-of function variants in LDB3 deleting the long form of the protein lead to neonatal left ventricular noncompaction cardiomyopathy

770 LONG-TERM PROGNOSIS IN LVNC CARDIOMYOPATHY: A SINGLE-CENTRE EXPERIENCE

Abstract Background left ventricular non-compaction (LVNC) cardiomyopathy is an often underdiagnosed and under-classified disease deriving from the incomplete development of ventricular myocardium. Clinical presentations may be variable and uncommon, ranging from an apparent lack of functional anomalies to heart failure, ventricular arrhythmias and, in some cases, even ischemic stroke. Despite great improvements in diagnostic performance there is still a widespread lack of evidence regarding the prognosis and management of affected patients. Methods all consecutive patients admitted to our Cardiology Institution from October 2009 to August 2022 fulfilling LVNC criteria by echocardiography or cardiovascular magnetic resonance (CMR) or both, were consecutively enrolled. CMR has been performed wherever possible. All patients underwent a complete cardiological visit, a 12-lead ECG and echocardiography at baseline, whereas at follow-up, if a complete visit was not possible, information regarding patients’ endpoints was acquired through telephonic contact. Additional diagnostic exams or implantation of a cardiac device were also performed if indicated. The primary endpoint was a composite of at least one between: sustained ventricular arrhythmias, an appropriate ICD intervention and sudden cardiac death. Secondary endpoints included supraventricular arrhythmias, unplanned cardiac hospitalizations, acute decompensated, chronic heart failure and ischemic stroke. Risk predictor analyses were not performed as the overall event rates were low and the risk for type II error was high. Results forty patients (26 males; age 45±17) were prospectively enrolled and followed up for a median of five years. CMR and echocardiography were overall agreeing on the majority of the diagnoses, with 62.5% of patients meeting the echo criteria and 70% of patients meeting the CMR criteria for LVNC. The incidence of the primary endpoint was 1.8% per years. Male gender and late gadolinium enhancement (LGE) were correlated with an increased incidence of the primary endpoint, while LVEF, NC/C or functional status were not associated with a significantly increased risk of the composite endpoint. HF diagnosis was the most common endpoint (6.1% annual incidence). The annual incidence of supraventricular arrhythmias was 3.0% and the annual incidence of stroke was 0.7%. Twenty-four patients (60%) experienced at least one hospitalization during follow-up. Unplanned hospitalizations represented 20% of all hospitalizations and were mainly HF-related. Planned hospitalizations were performed for elective procedures such as atrial fibrillation cardioversion, ablation, coronary angiography or diagnostic check-ups. Discussion in patients with LVNC, there is an increased incidence of cardiac-related outcomes than in the general population; furthermore, male gender and myocardial fibrosis are associated with increased risk of events. This trend highlights the importance of a prompt diagnosis and, obviously, of a correct knowledge of such disease.

1011 HETEROGENEOUS ARRHYTHMIC PHENOTYPE IN A CASE OF LEFT VENTRICULAR NON COMPACTION CARDIOMYOPATHY

Abstract A young 47 years old female patient was hospitalized in our department for recurrent traumatic syncopal episodes in order to undergo Head Up Tilt Test and Electrophysiology Study (EPS). Her ECG was normal and also transthoracic echocardiography didn't show pathological findings. 24 hour Holter ECG recording showed a short run of polymorphic ventricular tachycardia. Regarding familiar history her mother had died at a young age of sudden death. Head-up tilt test resulted negative for induced-syncope. During hospitalization the patient complained onset of malaise rapidly exiting in syncope: telemetry showed two pauses of 3.8 and 5.1 sec respectively, due to paroxysmal III degree atrio-ventricular block. The day after, the patient underwent electrophysiological study. During programmed ventricular stimulation from RV apex with train and V extrastimolous S1 300 S2 220 induction of syncopal ventricular fibrillation was observed, promptly treated with external DC shock. Cardiac MRI was performed showing diagnostic signs of Left Ventricular non-Compaction Cardiomyopathy. Considering the history of traumatic syncope the patient underwent dual chamber ICD implantation and was discharged. No clinical events in a 6 month follow-up. Genetical analysis was performed and we are waiting for the results. The term left ventricular non-compaction (LVNC) identifies a cardiomyopathy, characterized by intrauterine arrest of the compaction process of the ventricular myocardium during the end of the fourth week, thus leading to the development of prominent trabeculae of the left ventricle, deep intertrabecular recesses and a ventricular wall divider into two different layers of myocardium, the first compact, the other not. This nosological entity is difficult to classify (the European Society of Cardiology considers it as not classifiable among other cardiomyopathies, unlike the American Heart Association) mostly from the point of view of clinical implications, often unpredictable. In fact, we may have completely asymptomatic forms, which, according to some authors, should be considered as normal and completely benign variants, and various manifestations, in which the lack of compaction represents a morphological trait shared by phenotypically distinct forms of cardiomyopathy, such as hypertrophic, dilated and restrictive. LVNC carries an increased risk of ventricular dysfunction resulting in chronic heart failure, thromboembolic events and especially arrhythmic, often ventricular and life-threatening manifestations. A large spectrum of arrhythmias has been observed in patients with non-compact ventricles: in particular, supraventricular and ventricular tachycardias, Wolff-Parkinson-White (WPW) syndrome, but also bradyarrhythmias, which include sinus bradycardia, Sick Sinus Syndrome and various degrees of atrioventricular block, up to complete block. Ventricular tachycardias, including those that progress to ventricular fibrillation, occur in 38–47% of adult patients with LVNC, hence sudden death is often the cause of clinical presentation. Seen the features of the pathology, early diagnosis and family clinical evaluation are necessary aspects in patient management.

Hypertrophic cardiomyopathy and left ventricular non-compaction cardiomyopathy: two in one.

A 22-year-old asymptomatic Caucasian woman was referred because of an elevated NT-pro-BNP level (1225 ng/L, normal <125 ng/L) and a positive family history of unclear cardiomyopathy. Her electrocardiogram showed sinus rhythm, left axis deviation with signs of left ventricular (LV) hypertrophy, and repolarization abnormalities (Panel A). The transthoracic echocardiography revealed an asymmetrical LV hypertrophy without signs of left ventricular outflow tract obstruction at rest or under provocative Valsalva manoeuvre (Supplementary material online, Video S1). Imaging with cardiovascular magnetic resonance (CMR) confirmed asymmetrical LV hypertrophy with a maximum wall thickness of 18 mm. CMR also showed biventricular prominent trabeculation with multiple anterior, septal and inferior deep recesses (Panel B, Supplementary material online, Video S2) and a maximum ratio of non-compacted to compacted myocardium of 2.6 (Supplementary material online, Image). Biventricular volumes and global ejection fraction were normal with a mild hypokinesia of the hypertrophied LV segments. Late Gadolinium Enhancement and post-contrast T1 mapping demonstrated focal patchy fibrosis in the hypertrophied segments and at both right ventricular insertion points (Panel C, D).

Left Ventricular Non-compaction Cardiomyopathy and Polycystic Kidney Disease Revealed by Inappropriate Polycythemia: A Fortuitous Association? Case Report

Abstract We present the case of a patient with heart failure with reduced left ventricular (LV) ejection fraction, diagnosed in the first instance by echocardiography and further on by more accurate cardiac magnetic resonance imaging with LV non-compaction (LVNC). Blood tests showed high erythrocyte and hematocrit levels, inappropriate in this setting, whilst Janus Kinase 2V617F mutation was absent, erythropoietin level was slightly increased, and arterial O2 pressure level was normal. At the time of diagnosis, the patient had mild renal impairment, and abdominal echography revealed bilateral polycystic kidney disease (PKD). The patient had one son who fulfilled the echocardiographic criteria for LVNC and had bilateral renal cysts revealed by abdominal ultrasound. The genes responsible for autosomal dominant PKD (ADPKD) development are PKD1, on chromosome 16, coding for polycystin 1 and PKD2, on chromosome 4, coding for polycystin 2. There are some experimental data which suggest that polycystins might play an important role in cardiac development and hence PKD1 and PKD2 mutations may be involved in primary cardiomyopathies. These data could explain this particular association between LVNC and ADPKD. To date, there are only a few isolated cases reported, and only one shows this association in more than one member of the same family. Further genetic testing in the few reported cases would presumably elucidate whether this finding is the result of complex genetic synergy or just a simple coincidence.

A Review of Left Ventricular Non-compaction Cardiomyopathy (LVNC).

Left ventricular non-compaction (LVNC) is a rare congenital phenotype defined by the presence of prominent left ventricular trabeculae, deep intertrabecular recesses (continuous with the ventricular cavity), and a thin compacted layer. The most common presentation of LVNC is dyspnea (60%), followed by palpitations (18%), chest pain (15%), syncope (9%), and prior stroke (3%). LVNC presenting with acute myocardial infarction (MI) has rarely been reported in the literature. A forty-one-years old female presented with substernal chest pain and exertional dyspnea. On physical examination, she was alert without any distress, her lungs and heart examination were within normal limits. Peripheral pulses were palpable and regular, and +1 peripheral pitting edema was noted. EKG showed normal sinus rhythm with premature atrial contractions (PACs), left axis deviation, and ST-segment and T wave changes suggestive of inferior wall ischemia. Troponin I level was found to be elevated, which peaked within 24 hours, Troponinmax 110.08 ng/ml. Transthoracic echocardiography showed moderate LV dilatation with severely reduced EF (15-20%), and diffuse LV hypokinesis with a grade III restrictive pattern. There was heavy trabeculation of LV involving 2/3rd LV endocardium and wall thickness with sinusoidal tunnels perpendicular to LV wall. These morphological findings met the diagnostic criteria of LVNC/NCM. LVNC presenting with acute myocardial infarction (MI) can be related to poor outcomes, however, more data is needed to establish the clinical implication of this presentation. Asymptomatic LVNC can be observed while symptomatic LVNC should be treated with standard guidelines of HF.

Dilated Cardiomyopathy in Children: Early Detection and Treatment.

Cardiomyopathy is segregated into primary and secondary categories, leading to different phenotypes, including dilated, hypertrophic, and restrictive patterns. Dilated cardiomyopathy (DCM) is a mixed bag of heart diseases with the unique features of cardiac dilatation and subnormal to poor myocardial contractility. Dilated cardiomyopathy in the pediatric age group is generally characterized by unobstructed, dilated, and contracting left ventricular chamber defects and is associated with heart failure. Other causes include genetic juvenile-onset cardiomyopathy, drug-induced cardiomyopathy, stress-induced cardiomyopathy, hemochromatosis, endocrine causes (thyroid disorder and pheochromocytoma), autoimmune diseases, and nutritional deficiencies (selenium and thiamine). It is characterized by thinning of the left ventricle, a dilated left ventricle or biventricular dilatation, left ventricular systolic dysfunction, left ventricular diastolic dysfunction, global hypokinesia, and cardiomegaly (seen on a chest X-ray). Decreased cardiac output leads to fatigue, cachexia, narrow pulse pressure, dicrotic pulse/hypokinetic pulse, dyspnea, cool extremities, decreased blood supply to the brain (cognitive dysfunction), and reduced blood supply to the kidney (renal failure). Left ventricular diastolic dysfunction can result in dyspnea, orthopnea, and paroxysmal nocturnal dyspnea. Cardiomyopathy can also occur with or without left ventricular dysfunction, as in left ventricular non-compaction cardiomyopathy (LVNC), which is a rare heart disease occurring due to two (likely) pathogenic nonsense mutations: DSG2-p.S363X and TBX20-p.D278X. The study of familial forms of LVNC is helpful for risk prediction and genetic counseling of relatives. Right ventricular chamber failure can be identified on the electrocardiogram as sinus tachycardia and non-specific ST/T changes. The complications include arrhythmia (atrial fibrillation) and thromboembolism (left ventricular mural thrombosis). It is of utmost importance in the field of heart transplantation as the definitive treatment of the disease. Heart transplantation is now an acceptable treatment option for patients with dilated cardiomyopathy. This short review highlights different methods for the detection and diagnosis of dilated cardiomyopathy and the treatment modalities available for the same.

A Case of Left Ventricular Non-Compaction Cardiomyopathy with A Different Electrocardiographic Presentation And With Favourable Remodeling

A Case of Left Ventricular Non-Compaction Cardiomyopathy with A Different Electrocardiographic Presentation And With Favourable Remodeling

Left ventricular non-compaction cardiomyopathy associated with the PRKAG2 mutation

Left ventricular non-compaction cardiomyopathy (LVNC) is one of the most common inherited cardiovascular diseases. The genetic backgrounds of most LVNC patients are not fully understood. We collected clinical data, family histories, and blood samples and performed genetic analysis using next-generation sequencing (NGS) from a Chinese family of 15 subjects. Clinically LVNC affected subjects showed marked cardiac phenotype heterogeneity. We found that these subjects with LVNC carried a missense heterozygous genetic mutation c.905G>A (p.R302Q) in γ2 subunit of AMP-activated protein kinase (PRKAG2) gene through NGS. Individuals without this mutation showed no symptoms or cardiac structural abnormalities related to LVNC. One subject was the victim of sudden cardiac death. To sum up, PRKAG2 mutation c.905G>A (p.R302Q) caused familial LVNC. Our results described a potentially pathogenic mutation associated with LVNC, which may further extend the spectrum of LVNC phenotypes related to PRKAG2 gene mutations.

The use of 2-D speckle tracking echocardiography in assessing adolescent athletes with left ventricular hypertrabeculation meeting the criteria for left ventricular non-compaction cardiomyopathy

BackgroundCurrent echocardiographic criteria cannot accurately differentiate exercise induced left ventricular (LV) hypertrabeculation in athletes from LV non-compaction cardiomyopathy (LVNC). This study aims to evaluate the role of speckle tracking echocardiography (STE) in characterising LV myocardial mechanics in healthy adolescent athletes with and without LVNC echocardiographic criteria. MethodsAdolescent athletes evaluated at three sports academies between 2014 and 2019 were considered for this observational study. Those meeting the Jenni criteria for LVNC (end-systolic non-compacted/compacted myocardium ratio > 2 in any short axis segment) were considered LVNC+ and the rest LVNC-. Peak systolic LV longitudinal strain (Sl), circumferential strain (Sc), rotation (Rot), corresponding strain rates (SRl/c) and segmental values were calculated and compared using a non-inferiority approach. ResultsA total of 417 participants were included, mean age 14.5 ± 1.7 years, of which 6.5% were LVNC+ (n = 27). None of the athletes showed any additional LVNC clinical criteria. All average Sl, SRl Sc, SRc and Rot values were no worse in the LVNC+ group compared to LVNC- (p values range 0.0003–0.06), apart from apical SRc (p = 0.2). All 54 segmental measurements (Sl/Sc SRl/SRc and Rot) had numerically comparable means in both LVNC+ and LVNC-, of which 69% were also statistically non-inferior. ConclusionsAmong healthy adolescent athletes, 6.5% met the echocardiographic criteria for LVNC, but showed normal LV STE parameters, in contrast to available data on paediatric LVNC describing abnormal myocardial function. STE could better characterise the myocardial mechanics of athletes with LV hypertrabeculation, thus allowing the transition from structural to functional LVNC diagnosis, especially in suspected physiological remodelling.

Clinical characteristics of patients with heart failure and intracardiac thrombus.

BackgroundHeart failure (HF) patients are in a hypercoagulable state that predisposes them to an intracardiac thrombus. We aim to assess the clinical features of patients with HF and intracardiac thrombus.MethodsPatients diagnosed with HF with intracardiac thrombus were enrolled in this study. Patients' demographics, clinical comorbidities, laboratory tests, and cardiac imaging parameters are recorded. Baseline characteristics are described; the relationship between intracardiac thrombus location and cardiac underlying diseases, New York Heart Association (NYHA) class, and left ventricular ejection fraction (LVEF) are analyzed; and the anticoagulation rate is summarized.ResultsA total of 1,248 patients were included in the study. Most patients were men (72.2%) with a mean age of 54 years. The left ventricle is the most frequently involved (66.8%), and the prevalence of left ventricular thrombus is more in patients complicated with coronary artery diseases, ventricular noncompaction cardiomyopathy, and dilated cardiomyopathy (86.3%, 86.4%, and 78.2%, respectively). When combined with atrial fibrillation, atrial flutter, hypertrophic cardiomyopathy, restrictive cardiomyopathy, or valvular cardiomyopathy, the intracardiac thrombus is mostly likely to occur in the left atrium. The incidence rate of left cardiac thrombosis increased with the decline of LVEF, an increase of NYHA class, and enlargement of a cardiac chamber. Overall, the anticoagulation rate was 56.8%, with warfarin still the mainstay drug (45.1%), while the prescription of non-vitamin K antagonist oral anticoagulants rose year by year. As for imaging modalities for thrombus detection and diagnosis, transthoracic echocardiography was the most widely performed (75.1%).ConclusionThis study summarizes the underlying disease constitution, thrombus location and related factors, imaging modalities, and antithrombotic profile in HF patients with intracardiac thrombus comprehensively.

Necklace Pattern Left Ventricular Noncompaction Cardiomyopathy with Plethora of Paradoxic Septal Premature Ventricular Complexes: A Case Report and Literature Review

We report an extremely rare case of left ventricular noncompaction (LVNC) cardiomyopathy sparing the anterior ventricular wall in an interesting “necklace” pattern in parasternal short axis view in a 76-year-old female with frequent palpitation and shortness of breath for the last 6 months. Interestingly, the patient had a plethora of basal septal premature ventricular complexes (PVCs) both from the anterior and posterior aspects of the paradoxically thinned-out basal septum and they were not from the segment of noncompacted (NC) myocardium. Our case is unique and the first to describe the LVNC in an interesting shape of “necklace” sparing the left ventricular anterior, anteroseptal, and anterolateral wall and paradoxically arising plethora of septal PVCs from the thinned-out basal septum deteriorating the left ventricular function rapidly in an elderly female in her seventh decade of life. Although commonly in LVNC, the PVCs arise from the NC segment, in this unique case plethora of PVCs paradoxically arising from the basal septum were contributing toward rapid deterioration of left ventricular systolic function in an elderly patient in her seventh decade of life without the presence of conventional risk factors.

OCCULT NONCOMPACTION CARDIOMYOPATHY LEADING TO CARDIOGENIC SHOCK: AN INFREQUENT YET DEADLY DIAGNOSIS

OCCULT NONCOMPACTION CARDIOMYOPATHY LEADING TO CARDIOGENIC SHOCK: AN INFREQUENT YET DEADLY DIAGNOSIS

A Unique Association of Left Ventricular Noncompaction With Rheumatic Heart Disease

Left ventricular noncompaction cardiomyopathy (LVNC) is a type of primary genetic cardiomyopathy, which occurs during embryogenesis by the arrest in the ventricular myocardium compaction. LVNC is characterized by prominent wall trabeculations and intertrabecular recesses that communicate with the ventricular cavity. There are 2 types of cardiomyopathy: the first one is associated with other primary cardiac structural abnormalities like malfunctional cardiac valves as mentioned in the case report below and the second type is in which there are no other associated cardiac structural abnormalities also called isolated LV noncompaction cardiomyopathy. We report an association of severe rheumatic mitral valve disease and LV noncompaction with significantly reduced ejection fraction which is rare.