Left Ventricular Hypertrabeculation/noncompaction Research Articles

Age-Dependency of Cardiac and Neuromuscular Findings in Adults With Left Ventricular Hypertrabeculation/Noncompaction

Left ventricular hypertrabeculation/noncompaction (LVHT) is diagnosed in all ages and is frequently associated with neuromuscular disorders (NMDs). The aim of the study was to compare patients with LVHT depending on age at diagnosis. Included were 232 patients with LVHT (72 women, mean age 52±17 years) diagnosed from 1995 to 2014 at 1 echocardiographic laboratory. In 2014, their survival was assessed. Seventy-six percent of the patients were neurologically investigated, revealing specific NMDs in 18%, unspecific NMDs in 60%, and normal findings in 22%. Forty-five patients (19%) received electronic devices: implantable cardioverter-defibrillators in 26 patients, combined with cardiac resynchronization systems (n=14) or an antibradycardic pacemaker (n=1); antibradycardic pacemakers (n=8); cardiac resynchronization systems (n=4); implantable loop recorders (n=4); life vests (n=2); and a left ventricular assist device as a bridge to transplantation (n=1). During 72-month follow-up, mortality was 4.9% per year. In younger age groups, more patients were referred for syncope or palpitations, whereas in older age groups, more patients were referred for heart failure. Classic cardiovascular risk factors such as hypertension and diabetes, as well as coronary artery stenosis, were rare in the young age groups but were more prevalent in older age groups. Differences between age groups were found regarding cardiac symptoms, NMDs, electrocardiographic findings, rate of device implantation, and mortality but not in location and extension of LVHT. None of the neurologically investigated patients≥70 years of age was neurologically normal. Prevalence of heart failure, electrocardiographic abnormalities, and mortality were highest in the oldest age group. In conclusion, LVHT must be considered as an echocardiographic diagnosis in all age groups. The morphologic pattern of LVHT is similar, whereas clinical manifestations and prognosis are variable among age groups.

Is left ventricular hypertrabeculation/noncompaction in athletes benign?

With interest we read the article by Poscolieri et al. about 22 athletes with left ventricular hypertrabeculation/non-compaction (LVHT) discriminated into a benign and cardiomyopathic variant by multi-parametric evaluation of left ventricular end-diastolic diameter (LVEDD), ejection fraction (EF), residual compacted layer (RCL), and the presence of arrhythmias and conduction defects [1]. We have the following comments and concerns.

Ischemic stroke in left ventricular noncompaction and celiac disease

Left ventricular hypertrabeculation/noncompaction (LVHT) is a cardiac abnormality characterized by a hypertrabeculated left ventricular wall with a sponge-like appearance and a two-layered structure with an outer, subepicardially located compacted zone and an inner, subendocardially located noncompacted zone. Cardiac manifestations of LVHT comprise heart failure, thromboembolism and arrhythmias. LVHT is frequently associated with extracardiac diseases and neuromuscular disorders [1,2]. LVHT associated with digestive disorders, so far, has been only reported in a boy with glycogen storage disease type Ib [3].

Evolution of electrocardiographic abnormalities in association with neuromuscular disorders and survival in left ventricular hypertrabeculation/noncompaction.

Left ventricular hypertrabeculation/noncompaction (LVHT) is frequently associated with neuromuscular disorders (NMDs) and electrocardiographic (ECG) abnormalities. The prognostic relevance of newly developed ECG abnormalities in LVHT and its dependency on NMD is largely unknown. Aim of the following retrospective cohort study in LVHT patients was thus to assess the development of new ECG abnormalities and its dependency on NMD and survival. Included were patients in whom (a) LVHT was diagnosed between 1995 and 2011, (b) baseline ECG recordings (bECG), and (c) follow-up ECG recordings (fECG) were available. Survival status was assessed in June 2013. Included were 105 patients (mean age 55 years, 36 females, 67 with NMD). The interval between bECG and fECG was 3.6 years. ECG abnormalities increased in 46%, were unchanged in 44% and decreased in 11%. Increase was associated with age (59 years vs 49 years, P = 0.0169), exertional dyspnea (79% vs 53%, P = 0.013), heart failure (81% vs 47%, P = 0.0149), a left ventricular end-diastolic diameter >57 mm (76% vs 43%, P = 0.004) and a left ventricular fractional shortening <25% (68% vs 42%, P = 0.0429). New ECG abnormalities were ST-T wave abnormalities (n = 35), left anterior hemiblock (n = 6) and Q waves (n = 6). During 71 months, 40 patients died. Multivariate analysis identified age, male gender, "constant" (in bECG as well as fECG) atrial fibrillation, disappearance of atrial fibrillation, development as well as disappearance of low voltage ECG, increase of QRS width, constant QRS width >120 ms and constant tall QRS complexes as predictors for mortality. LVHT-patients develop frequently new ECG abnormalities of prognostic relevance.

Letter by Stöllberger and Finsterer Regarding Article, “Mortality and Sudden Death in Pediatric Left Ventricular Noncompaction in a Tertiary Referral Center”

With interest we read the article by Brescia et al1 about mortality and sudden death in 242 children with left ventricular hypertrabeculation/noncompaction (LVHT). During a median follow-up period of 4 years cardiac dysfunction, repolarization abnormalities, arrhythmias, and presentation within the first year of life (infantile LVHT) were identified as risk factors for death or transplantation. Whereas some of these risk factors are similar to adult LVHT-patients,2,3 several issues should be clarified. Why were patients with congenital heart disease excluded? LVHT has been frequently reported in association with congenital heart disease, even in the first description of LVHT by Grant in …

Epilepsy and noncompaction

Dear Sir, With interest we read the article by Dello et al. about a patient with left ventricular hypertrabeculation/noncompaction (LVHT) and syncope being attributed to ventricular tachycardia [1]. We have the following comments and concerns. Work-up for syncope not only requires cardiological but also neurological investigations. It is important not only to rule out epilepsy but also ischaemic stroke or cerebral bleeding. In this respect it is important to carry out multimodal cerebral MRI to receive not only parenchymatous but also vascular information. Stroke is particularly prevalent in LVHT patients because of embolism from thrombus formation within the intertrabecular spaces [2]. Single patients with LVHT may also develop atrial fibrillation, the most common risk factor for embolic stroke. A number of patients with LVHT also develop systolic dysfunction, another risk factor for stroke or embolism [3]. Did the described patient undergo cerebral MRI and what was the result? Where any old ischaemic lesions seen on TIRM sequences? Syncope may also derive from stenosis of the extra-cranial cerebral arteries. Did the patient undergo carotid ultrasound or contrast-enhanced MR angiography to rule out high-grade stenosis of the internal carotid arteries or dissection of the carotid or vertebral arteries? A further neurological cause of syncope may be affection of the peripheral nerves [4]. Were there any indications for vegetative polyneuropathy in the described patient? Did he present with weakness, wasting, reduced tendon reflexes, or sensory disturbances? Was the patient seen by a neurologist to rule out or confirm acute or chronic polyneuropathy? A fourth reason why the neurologist should see LVHT patients is the frequent association of LVHT with neuromuscular disorders [5]. Particularly muscle disease is highly prevalent among LVHT patients, although a causative relation between neuromuscular disorders and LVHT has not been proven yet. It would be also interesting to receive a more detailed description of the paroxysmal activity on EEG? How often did the patient experience seizures? What type of seizures did he experience? Only focal or also generalised seizures? Did he also present with non-convulsive seizures? When was the onset of epilepsy, what was the seizure frequency, what were the most frequent triggers for seizures in this particular patient? Did he have a family history positive for epilepsy, did he have a history of birth trauma, cerebral hypoxia, fever cramps, traumatic brain injury, meningitis, or a history of neurosurgery? What was the cause of epilepsy and did he ever take antiepileptic drugs other than levetiracetam? How do the authors know that paroxysmal activity on EEG was secondary to arrhythmias and not primary due to a double trouble? It is not unusual that EEG is normal after a seizure, particularly after initiation of antiepileptic treatment. EEGs may be also abnormal in patients without epilepsy, such as in patients with migraine or other types of headache. Did the patient report a history of headache? Did he experience further seizures after discharge? How frequently did he attend the follow-ups? How were the follow-up EEGs? Was the family history positive for epilepsy? Overall, there is a strong need to investigate LVHT patients with a history of syncope or epilepsy more thoroughly, particularly by referral to the neurologist. The neurologist must rule out stroke, epilepsy, carotid artery stenosis, polyneuropathy, or myopathy. Seizures in LVHT patients may not only be due to ischaemia during ventricular arrhythmias but also an independent second trouble in these patients.

Acquired non-compaction in integrin-myopathy

Letter to the Editor With interest we read the article by Esposito et al. about a female child with myopathy and left ventricular hypertrabeculation / noncompaction (LVHT) carrying a mutation in two different genes, the integrin-α7 gene and the myosin heavy chain 7B gene (MYH7B) [1]. We have the following comments and concerns. The authors mention in the discussion that MYL2 and MYL3 mutations were found in patients with LVHT [1]. Among the 5 papers cited to corroborate this statement Budde et al. [2] did not look for MYL2 or MYL3 mutations and Klaassen et al. [3] and Probst et al. [4] definitively state that no mutations in MYL2 or MYL3 were found. Hoedemaekers et al. 2010 [5] tested for MYL2 and MYL3 but do not mention a mutation in these genes in their results either. Walsh et al. 2010 [6] is not an original paper but a review about MYH7 mutations. LVHT has not only been found in association with mutations in the TAZ, DTNA, ZASP, lamin A/C, MYH7, ACTC1, TNNT2, TNNI3, MYBPC3, and TPM1 genes but also in association with mutations in the dystrophin, DMPK, ZNF9, LAMP2, GAA, mtDNA, AMPD1, GBE1, RYR1, COL7A1, PMP22, MMACHC, beta-globin, and DNAJC19 genes [Finsterer et al., submitted]. The index patient underwent echocardiography at age 1 month but LVHT was diagnosed not before the next echocardiographic examination at age 17 months. Which is the reason why LVHT was not detected at the initial examination? Was LVHT missed because of poor image quality, absent awareness of the pathology, ignoring the abnormality, left ventricular hypertrophy at the initial investigation, severe dilation of the left ventricle, or did LVHT truly develop during the period between the two examinations (acquired LVHT)? Did the authors review the initial echocardiographic examination? Did the presence of a patent arterial duct and patent foramen ovale prevent LVHT from being diagnosed at the initial examination?

Grant et al. 1926 did not provide the first description of left ventricular hypertrabeculation/noncompaction

The American and European Societies of Cardiology categorise left ventricular hypertrabeculation/noncompaction (LVHT) as unclassified cardiomyopathy [ [1] Elliott P. Andersson B. Arbustini E. et al. Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2008; 29: 270-276 Crossref PubMed Scopus (1866) Google Scholar ]. Though the aetiology of LVHT is unknown, it is frequently associated with hereditary neuromuscular disorders (NMDs), hereditary cardiac disease, or chromosomal abnormalities [ [2] Finsterer J. Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction. Pediatr Cardiol. 2009; 30: 659-681 Crossref PubMed Scopus (189) Google Scholar ]. LVHT refers to a morphological abnormality of the left ventricular myocardium macroscopically characterised by a two-layered structure, of which the epicardial layer is compacted and the endocardial layer non-compacted [ [3] Stöllberger C. Gerecke B. Finsterer J. Engberding R. Refinement of echocardiographic criteria for left ventricular noncompaction. Int J Cardiol. 2013; 165: 463-467 Abstract Full Text Full Text PDF PubMed Scopus (79) Google Scholar ]. The endocardial layer is thicker than the epicardial layer and characterised by a meshwork of interwoven myocardial strings, which are separated by deep intertrabecular recesses and perfused from the ventricular side [ [4] Captur G. Nihoyannopoulos P. Left ventricular non-compaction: genetic heterogeneity, diagnosis and clinical course. Int J Cardiol. 2010; 140: 145-153 Abstract Full Text Full Text PDF PubMed Scopus (98) Google Scholar ]. Histologically, the trabeculations are lined with endocardium and show vacuolisation of cardiomyocytes, abnormal nuclei, increased glycogen storage, and frequently subendocardial fibrosis [ 5 Allenby P.A. Gould N.S. Schwartz M.F. Chiemmongkoltip P. Dysplastic cardiac development presenting as cardiomyopathy. Arch Pathol Lab Med. 1988; 112: 1255-1258 PubMed Google Scholar , 6 Bleyl S.B. Mumford B.R. Brown-Harrison M.C. et al. Xq28-linked noncompaction of the left ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals. Am J Med Genet. 1997; 72: 257-265 Crossref PubMed Scopus (289) Google Scholar ]. In LVHT the intertrabecular spaces do not communicate with myocardial arteries, veins, or capillaries, neither with those of the compacted nor with those of the non-compacted layer [ [7] Engberding R. Yelbuz T.M. Breithardt G. Isolated noncompaction of the left ventricular myocardium — a review of the literature two decades after the initial case description. Clin Res Cardiol. 2007; 96: 481-488 Crossref PubMed Scopus (103) Google Scholar ]. There is also no other communication with the coronary artery system. Contrary to LVHT, there are communications between the coronary arteries and the left ventricle in conditions such as persisting sinusoids [ [8] Jenni R. Goebel N. Tartini R. Schneider J. Arbenz U. Oelz O. Persisting myocardial sinusoids of both ventricles as an isolated anomaly: echocardiographic, angiographic, and pathologic anatomical findings. Cardiovasc Intervent Radiol. 1986; 9: 127-131 Crossref PubMed Scopus (155) Google Scholar ] or the snake heart [ [9] Walia I. Arora H.S. Barker E.A. Delgado III, R.M. Frazier O.H. Snake heart: a case of atavism in a human being. Tex Heart Inst J. 2010; 37: 687-690 PubMed Google Scholar ], which may be also associated with hypertrabeculation of the left ventricle. In a number of publications [ 10 Misra C. Garg V. Compacting the heart with Notch. Nat Med. 2013; 19: 133-134 Crossref PubMed Scopus (8) Google Scholar , 11 Brescia S.T. Rossano J.W. Pignatelli R. et al. Mortality and sudden death in pediatric left ventricular noncompaction in a tertiary referral center. Circulation. 2013; 127: 2202-2208 Crossref PubMed Scopus (164) Google Scholar ], LVHT is reported to have been described for the first time by Grant et al. in 1926 [ [12] Grant R.T. An unusual anomaly of the coronary vessels in the malformed heart of a child. Heart. 1926; 13: 273-283 Google Scholar ]. This, however, needs to be revised since the condition described by Grant et al. does not meet the diagnostic criteria of LVHT outlined above.

Quantitative Electrocardiographic Measures, Neuromuscular Disorders, and Survival in Left Ventricular Hypertrabeculation/Noncompaction

Left ventricular hypertrabeculation/noncompaction (LVHT) is frequently associated with neuromuscular disorders (NMDs) and electrocardiographic (ECG) abnormalities. Quantitative ECG-measures (QEMs) are risk markers for mortality in cardiomyopathies. We measured QEMs in the ECGs in LVHT patients with and without NMDs. Included were patients in whom (a) LVHT was diagnosed between 1995 and 2011 and (b) baseline ECG recordings were available. All underwent a clinical examination and were invited for a neurological investigation. QRS duration, QT, QTc and PR intervals were analyzed. Survival status was assessed in June 2011. In 141patients (mean age 54 years, 49 females) QRS duration ranged from 40 to 200ms, a QRS duration >120ms was found in 19% and was associated with increased age, heart failure, left ventricular dilatation and systolic dysfunction (P< 0.001). QT intervals ranged from 240 to 600ms. The QTc intervals ranged from 302 to 612ms, a QTc interval >440ms was found in 38% and was associated with left ventricular dilatation and systolic dysfunction (P< 0.001). PR intervals ranged from 90 to 360ms, a PR interval >200ms was found in 16% and associated with left ventricular dilatation (P< 0.01). No QEM differences were found in 86patients with and 13 without NMD. During 59 months follow-up 45patients died. QEMs were no mortality predictors, whereas multivariate analysis identified heart failure (P< 0.01), atrial fibrillation (P< 0.01) and diabetes mellitus (P< 0.05) as mortality predictors. Prolonged QRS complexes, PR and QTc intervals in LVHT are associated with heart failure and left ventricular dilatation, but not with NMD. The prognostic role of QEMs in LVHT needs further investigations in larger series.

New oral anticoagulants for stroke prevention in left ventricular hypertrabeculation/noncompaction?

Left ventricular hypertrabeculation/noncompaction (LVHT) is a cardiac abnormality of unknown etiology, associated with neuromuscular disorders, and an increased risk of heart failure, arrhythmias, and stroke or embolism (S/E) [1,2]. We have shown that in 22 of 144 LVHT patients (15%) stroke (n=21) or peripheral embolism (n=1) had occurred. S/E etiology was either cardioembolic (n=14), atherosclerotic (n=5) or undetermined (n=3). Among the patients with cardioembolic S/E, 13/14 had either atrial fibrillation (AF) or systolic dysfunction [3].

Thrombolysis of Ischemic Stroke From Noncompaction in Metabolic Myopathy

Ischemic stroke has not been reported together with left ventricular hypertrabeculation/noncompaction (LVHT) and metabolic myopathy. In a 32-year-old woman with suspected metabolic myopathy, congenital AV-block, pacemaker implantation at the age of 20, and reduced systolic function, LVHT was detected on echocardiography. Shortly afterward, the patient had a left-sided ischemic stroke and underwent systemic thrombolysis with rTPA 3.5 hours after the onset. After the exclusion of potential causes of stroke, cerebral thromboembolism was attributed to LVHT. Oral anticoagulation was initiated and a cardiac resynchronization system was implanted. LVHT patients with systolic dysfunction or atrial fibrillation experiencing an ischemic stroke may benefit from oral anticoagulation.

A Case of Left Ventricular Noncompaction Accompanying Fasciculo-Ventricular Accessory Pathway and Atrial Flutter

Left ventricular hypertrabeculation/noncompaction (LVHT) is an uncommon type of genetic cardiomyopathy characterized by trabeculations and recesses within the ventricular myocardium. LVHT is associated with diastolic or systolic dysfunction, thromboembolic complications, and arrhythmias, including atrial fibrillation, ventricular arrhythmias, atrioventricular block and Wolff-Parkinson-White syndrome. Herein, we describe a patient who presented with heart failure and wide-complex tachycardia. Echocardiography showed LVHT accompanied with severe mitral regurgitation. The electrophysiologic study revealed a fasciculo-ventricular accessory pathway and atrial flutter (AFL). The AFL was successfully treated with catheter ablation.

CHADS2- and CHA2DS2VASc Scores and Embolic Risk in Left Ventricular Hypertrabeculation/Noncompaction

Left ventricular hypertrabeculation/noncompaction (LVHT) is associated with stroke or embolism (S/E). The aim of this study was to assess if the Congestive heart failure, Hypertension, Age >75 years, Diabetes, and Stroke (CHADS2) and CHA2DS2VASc scores are different between LVHT-patients with and without stroke/embolism. Records of LVHT patients were retrospectively screened. For stroke classification, the Trial of Org 10172 in Acute Stroke Treatment (TOAST) criteria were applied, for peripheral embolism angiographic findings. Baseline data were compared between patients with and without S/E. In 26 of 169 patients (15%), stroke (n = 24) or peripheric embolism (n = 2) had occurred. S/E etiology was either cardioembolic (n = 18), atherosclerotic (n = 5), or undetermined (n = 3). S/E occurred before (n = 17) and after (n = 9) diagnosis of LVHT/NC. The prevalence of hypertension (62 vs 35%; P < .05), CHADS2, and CHA2DS2-VASc scores were higher in patients with than without S/E (2.85 vs 1.26 and 3.69 vs 1.93, respectively; P < .001). S/E in LVHT is not always cardioembolic, but may also have an atherosclerotic cause. The CHADS2 score may be useful for clinical decision-making about oral anticoagulation for the prevention of S/E in LVHT patients.

Abstract 9266: Heart Failure, Atrial Fibrillation and Neuromuscular Disorders Determine Mortality in Left Ventricular Noncompaction

Objectives and Background: The long-term prognosis of patients with left ventricular hypertrabeculation/noncompaction (LVHT) is assessed controversially. Aim of the study was to assess parameters influencing mortality and to compare the mortality of LVHT-patients with that of the Austrian general population. Methods: Included were all patients in whom LVHT was diagnosed in the echocardiographic laboratory of the KA Rudolfstiftung between June 1995 and February 2011. They underwent a baseline cardiologic examination and were invited for a neurological investigation. Between January and February 2011, the patients were contacted by telephone and assessed if the patient was alive or not. Results: LVHT was diagnosed in 162 patients (46 female, mean age 53±16 years) with a prevalence of 0.31%/year. Hundred-sixteen patients (72%) underwent a neurological investigation which revealed specific neuromuscular disorders (NMD) in 25, a NMD of unknown etiology in 74, and was normal in 17 patients. During a mean follow-up of 67 months, the mortality was 4.8%/years and the standardized mortality ratio 6.27 compared with the general Austrian population. By multivariate analysis, significant predictors for mortality were heart failure (Hazard-ratios 3.91, 4.48 and 5.37 for NYHA II, III and IV), atrial fibrillation (Hazard-ratios 3.26) and presence of NMD, either specific or of unknown etiology (Hazard-ratio 1.86). Conclusion: Prognostic predictors in LVHT are heart failure, atrial fibrillation and NMD, which stresses the need for a neurologic investigation. Heart failure and atrial fibrillation should be treated consequently in LVHT.

Heart Failure, Atrial Fibrillation and Neuromuscular Disorders Influence Mortality in Left Ventricular Hypertrabeculation/Noncompaction

Objectives: The prognosis of patients with left ventricular hypertrabeculation/noncompaction (LVHT) is controversial. The aim of the study was to assess parameters influencing mortality and to compare the mortality of LVHT patients with that of the general population of Austria. Methods and Results: Included were patients with LVHT diagnosed echocardiographically between June 1995 and February 2011. They underwent a baseline cardiologic examination and were invited for neurological investigation. Between January and February 2011, their survival status was assessed. LVHT was diagnosed in 162 patients (46 females, aged 53 ± 16 years) with a prevalence of 0.31%/year. One hundred and sixteen patients (72%) underwent a neurological investigation which revealed specific neuromuscular disorders (NMD) in 25 and NMD of unknown etiology in 74 patients, and 17 subjects were assessed as normal. During the follow-up of 67 months, mortality was 4.8%/year and the standardized mortality ratio was 6.27, compared with the Austrian population. By multivariate analysis, predictors of mortality were heart failure (hazard ratio 3.91, 4.48 and 5.37 for the New York Heart Association class II, III and IV, respectively), atrial fibrillation (hazard ratio 3.26) and NMD (hazard ratio 1.86). Conclusion: Prognostic predictors in LVHT are heart failure, atrial fibrillation and NMD. Whether optimal therapy of heart failure and atrial fibrillation will improve the prognosis of LVHT patients has to be addressed by further studies.

Frequency of Stroke and Embolism in Left Ventricular Hypertrabeculation/Noncompaction

Left ventricular hypertrabeculation/noncompaction (LVHT/NC) is associated with stroke or embolism (S/E). The aim of this retrospective study was to assess the rate, risk factors, and cause of S/E in patients with LVHT/NC. The medical records of patients with LVHT/NC were retrospectively screened for S/E. For stroke classification, the Trial of ORG 10172 in Acute Stroke Treatment (TOAST) criteria were applied, and for peripheral embolism, angiographic findings were used. Baseline clinical, echocardiographic, and electrocardiographic data were compared between patients with and without S/E. In 22 of 144 patients (15%), stroke (n = 21) or peripheral embolism (n = 1) had occurred. The cause of S/E was cardioembolic (n = 14), atherosclerotic (n = 5), or undetermined (n = 3). S/E occurred before (n = 14) and after (n = 8) the diagnosis of LVHT/NC. Only mean age (60 vs 53 years, p <0.05) and the prevalence of hypertension (32% vs 59%, p <0.05) were higher in patients with S/E than in those without S/E. Among patients with cardioembolic S/E, 13 of 14 had either atrial fibrillation (AF) or systolic dysfunction, and AF as well as systolic dysfunction were found in 4 of 14 patients. In conclusion, S/E in patients with LVHT/NC is not always cardioembolic but may also have an atherosclerotic cause. In the absence of AF or left ventricular systolic dysfunction, cardioembolic S/E is rare in patients with LVHT/NC. These findings suggest that patients with LVHT/NC with systolic dysfunction or AF should receive oral anticoagulation as primary prophylaxis against S/E.

Cardiac devices and neuromuscular disorders in left ventricular noncompaction

Left ventricular hypertrabeculation/noncompaction (LVHT) is associated with arrhythmias (Table 1) and neuromuscular disorders (NMD) [1–4]. Cardiac implantable electronic devices (CIED) like antibradycardic pacemakers (PM), implantable cardioverters/defibrillators (ICD) and biventricular pacemakers for cardiac resynchronization (CRT) are beneficial but have also risks [5–7]. The aim of the study was to analyze the indications, complications and outcome of LVHT-patients with CIED. Included were all patients in whom LVHT was diagnosed since 1995 [2].

A Case of Left Ventricular Noncompaction Accompanying Fasciculo-Ventricular Accessory Pathway and Atrial Flutter

Left ventricular hypertrabeculation/noncompaction (LVHT) is an uncommon type of genetic cardiomyopathy characterized by trabeculations and recesses within the ventricular myocardium. Frequently associated arrhythmias included atrial fibrillation, ventricular arrhythmias, atrioventricular block, and Wolff-Parkinson-White syndrome. A 29-year-old male presented with palpitations and shortness of breath. The ECG showed pre-excitation and anteroseptal accessory pathway was suspected. The echocardiogram revealed prominent trabeculations and deep recesses in the left ventricles. The recesses were perfused by intraventricular flow. During the echocardiographic examination, tachycardia developed spontaneously. The ECG showed wide complex tachycardia and the QRS morphology was similar to that of sinus rhythm. An electrophysiologic study was performed. Decremental atrial pacing caused prolongation of both AH and AV intervals in parallel. The HV interval and the degree of preexcitation remained unchanged from both right atrial and coronary sinus pacing with atrial extrastimuli. The His bundle pacing failed to normalize the QRS width. A diagnosis of fasciculo-ventricular accessory pathway was made. Decremental pacing on the proximal coronary sinus area induced typical atrial flutter, which was identical to the clinical tachycardia. A line of block was made across the cavo-tricuspid isthmus (CTI). A rare presentation of LVHT with fasciculo-ventricular accessory pathway and atrial flutter was successfully treated with conventional CTI block.

Coronary angiography in noncompaction with and without neuromuscular disorders

The prevalence of coronary pathologic findings in patients with left ventricular hypertrabeculation/noncompaction (LVHT) is unknown. The study in a cohort of consecutive LVHT patients aimed to assess how often coronary angiography (CA) had been performed, if clinical findings and prognosis differed between patients with and without CA, how often pathologic findings of the coronary arteries were found, and if there were differences between LVHT patients with and without coronary pathologic findings. Between 1995-2007 LVHT was diagnosed in 113 patients (mean age 53 years, 29% females, 67% neuromuscular disorders). CA had been performed in 52. Patients with CA had more exertional dyspnoea (79 vs. 61%, p < 0.05), angina pectoris (42 vs. 10%, p < 0.001), hypertension (44 vs. 25%, p < 0.05) and larger left ventricles (66 vs. 60 mm, p < 0.001) than patients without. No anomalously originating coronary arteries were found. Patients with coronary arteriosclerosis (n = 8) had more right-bundle-branch block than patients without (25 vs. 0%, p < 0.05). Mortality was 5.8% per year and did neither differ between patients with and without CA nor with and without coronary arteriosclerosis. Coronary arteriosclerosis is rarely associated with LVHT and does not seem to affect prognosis.

Neuromuscular Disorders in Left Ventricular Hypertrabeculation/Noncompaction

Left ventricular hypertrabeculation / noncompaction (LVHT) is in the majority of the cases associated with hereditary cardiac or skeletal muscle disease or with chromosomal abnormalities. Depending on the study more than two thirds of the LVHT patients also present with a neuromuscular disorder (NMD). NMDs most frequently associated with LVHT are the Barth syndrome, mitochondrial disorders, zaspopathy, and myotonic dystrophies. NMDs only occasionally presenting with LVHT are the dystrobrevinopathy, laminopathies, dystrophinopathies, myoadenylat-deaminase deficiency, hereditary inclusion body myositis and the hereditary neuropathy CMT1A. A causal relation between NMDs and LVHT is likely, although the exact relationship and pathomechanic association remains elusive. The close pathogenetic relation is supported by the fact that the phenomenon of acquired LVHT occurs predominantly in NMDs. Consequent referral of LVHT patients to the neurologist, consequent referral of NMD patients to the cardiologist, and family investigations may help and to elucidate unsolved issues concerning the pathogenesis, course and prognosis of LVHT.