Left Ventricular Hypertrabeculation/noncompaction Patients Research Articles

NT-pro-BNP in patients with left ventricular hypertrabeculation/non-compaction.

AimsLeft ventricular hypertrabeculation/non‐compaction (LVHT) is a cardiac abnormality of unknown pathogenesis and frequently associated with neuromuscular disorders. The N‐terminal fragment of the pro brain natriuretic peptide (NT‐pro‐BNP) is a prognostic marker in heart failure whose relevance in LVHT patients is largely unknown. The aim of the study was to assess the role of NT‐pro‐BNP levels as prognostic markers in LVHT.Methods and resultsData of LVHT patients were collected in a database from one echocardiographic laboratory since 1996. The hospital information system was screened for measurements of NT‐pro‐BNP levels, and their association with clinical and echocardiographic baseline parameters was retrospectively assessed. During follow‐up, the endpoints were death and heart transplantation. In 113 patients (median age 57 years, 24% women), data about NT‐pro‐BNP measurements were found, ranging from 8 to 121 152 (median 2029) ng/L. High NT‐pro‐BNP levels were associated with heart failure, valvular abnormalities, diabetes mellitus, hypertension, angina pectoris, number of LVHT‐affected segments, end‐diastolic diameter, and systolic dysfunction. During a follow‐up of 73 (±64; 0–237) months, 35% of the patients reached an endpoint. High NT‐pro‐BNP levels were associated with the occurrence of an endpoint (P < 0.001). By multivariate analysis, predictors for endpoints were increased age (P = 0.0025), atrial fibrillation (P = 0.0023), natural logarithm of NT‐pro‐BNP levels (P = 0.0073), diabetes mellitus (P = 0.014), and thromboembolic events before diagnosis (P = 0.0347).ConclusionsAlso in LVHT patients, high NT‐pro‐BNP levels are indicators for death and heart transplantation.

Usefulness of Neuromuscular Co-morbidity, Left Bundle Branch Block, and Atrial Fibrillation to Predict the Long-Term Prognosis of Left Ventricular Hypertrabeculation/Noncompaction

The prognosis of patients with left ventricular hypertrabeculation/noncompaction (LVHT) is assessed controversially. LVHT is associated with other cardiac abnormalities and with neuromuscular disorders (NMD). Aim of the study was to assess cardiac and neurological findings as predictors of mortality rate in adult LVHT-patients. Included were patients with LVHT diagnosed between 1995 and 2019 in 1 echocardiographic laboratory. Patients underwent a baseline cardiologic examination and were invited for a neurological investigation. In January 2020, their survival status was assessed. End points were death or heart transplantation. LVHT was diagnosed by echocardiography in 310 patients (93 female, aged 53 ± 18 years) with a prevalence of 0.4%/year. A neurologic investigation was performed in 205 patients (67%). A specific NMD was found in 33 (16%), NMD of unknown etiology in 123 (60%) and the neurological investigation was normal in 49 (24%) patients. During follow-up of 84 ± 71 months, 59 patients received electronic devices, 105 patients died, and 6 underwent heart transplantation. The mortality was 4.7%/year, the rate of heart transplantation/death 5%/year. By multivariate analysis, the following parameters were identified to elevate the risk of mortality/heart transplantation: increased age (p = 0.005), inpatient (p = 0.001), presence of a specific NMD (p = 0.0312) or NMD of unknown etiology (p = 0.0365), atrial fibrillation (p = 0.0000), ventricular premature complexes (p = 0.0053), exertional dyspnea (p = 0.0023), left bundle branch block (p = 0.0201), and LVHT of the posterior wall (p = 0.0158). In conclusion, LVHT patients should be systematically investigated neurologically since neurological co-morbidity has a prognostic impact.

Left ventricular hypertrabeculation/noncompaction, cardiac phenotype, and neuromuscular disorders.

The prognosis of patients with left ventricular hypertrabeculation/noncompaction (LVHT) and its association with neuromuscular disorders (NMDs) is acontroversial topic. The aim of this study was to assess whether the prognosis of LVHT patients is dependent on cardiac phenotype and the presence of NMDs. Consecutive patients who were diagnosed with LVHT between 1995 and 2016 were included in the study. Cardiac phenotype was classified according to the recommendations of the European Society of Cardiology as: "dilated" if the left ventricular end-diastolic diameter (LVEDD) was >57 mm and left ventricular fractional shortening (FS) was ≤25%; "hypertrophic" if LVEDD was ≤57 mm, FS > 25%, and left ventricular posterior wall (LVPWT) and interventricular septal thickness (IVST) were both >13 mm; "intermediate" if LVEDD was >57 mm and FS > 25% or if LVEDD was ≤57 mm and FS ≤ 25%; and "normal" if LVEDD was ≤57 mm, FS > 25%, and IVST and LVPWT ≤ 13 mm. Therapy was carried out by the treating physicians. LVHT was diagnosed in 273 patients (80females, 53 ± 16years). The phenotype was assessed as dilated in 46%, hypertrophic in 8%, intermediate in 17%, and normal in 29% of the patients. Of these patients, 72% underwent neurological examinations, and anNMD was found in 76%. Over aperiod of 7.4years (±5.7), 84patients died and sixunderwent cardiac transplantation. The highest mortality rate was observed in the dilated and the lowest in the hypertrophic cardiac phenotype groups. Among the dilated phenotype, mortality was higher in patients with than without NMDs. Patients with LVHT and dilated cardiac phenotype have aworse prognosis than patients with ahypertrophic or intermediate/normal cardiac phenotype, especially if they suffer from NMDs.

Neuromuscular comorbidity, heart failure, and atrial fibrillation as prognostic factors in left ventricular hypertrabeculation/noncompaction

There is some controversy concerning the prognosis of patients with left ventricular hypertrabeculation/noncompaction (LVHT). LVHT is frequently associated with neuromuscular disorders (NMDs). The aim of this study was to assess cardiac and neurological findings as predictors of mortality in patients with LVHT. The study included patients with LVHT diagnosed between June 1995 and January 2014 in one echocardiographic laboratory. They underwent a baseline cardiologic examination and were invited for a neurological examination. Between January and February 2014, their survival status was assessed. LVHT was diagnosed in 220 patients (68 female, aged 52 ± 17years) with a prevalence of 0.35 %/year. During a follow-up of 72 ± 61months, 65 patients died. The mortality was 5 %/year. A neurological investigation was performed on 173 patients (79 %) and revealed specific NMDs in 31 (14 %), NMD of unknown etiology in 103 (47 %), and normal findings in 39 (18 %) patients. In multivariate analysis, the predictors of mortality were increased age (p = 0.0001), presence of a specific NMD (p = 0.0062) or NMD of unknown etiology (p = 0.0062), heart failure NYHA III (p = 0.0396), atrial fibrillation (p = 0.0022), and sinus tachycardia (p = 0.0395). LVHT patients should undergo systematic neurological examinations. Whether an optimal therapy of heart failure and atrial fibrillation will improve the prognosis of LVHT patients needs to be addressed in further studies.

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.

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.

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].

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.

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.

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.

Arrhythmias and Left Ventricular Hypertrabeculation/Noncompaction

Arrhythmias in left ventricular hypertrabeculation/noncompaction (LVHT) comprise sustained or non-sustained ventricular tachycardia (VT) (n=135), atrial fibrillation (AF) (n=96) AV block (n=55) and QT prolongation (n=47). The prevalence differs between children and adults. In children most frequent are WPW-syndrome (n=24), AV block (n=24), VT (n=17) and bradycardia (n=15). In adults most frequent arrhythmias are VT (n=118), AF (n=95), QT prolongation (n=42) and AV block (n=31). Some arrhythmias are more frequently reported in children than in adults like WPW-syndrome (24 vs. 17 patients), second-degree AV block (4 vs. 0 patients), bradycardia (15 vs. 3 patients) and ventricular fibrillation (VF) (9 vs. 5 patients). There are nearly no pediatric cases with AF (1 vs. 95 patients). In 120 patients implantable cardioverters/defibrillators have been implanted for primary or secondary prevention of sudden cardiac death. The pathomechanisms of arrhythmias in LVHT are largely unknown, especially if patients with LVHT and neuromuscular disorders are more prone to arrhythmias than patients without. There is a need to clarify risk factors for VT or VF because 19% of LVHT patients with VT or VF have a normal systolic function and demonstration of systolic dysfunction is no reliable risk marker. Data about long-term follow-up of LVHT patients with implanted cardioverters/defibrillators are necessary since the indication for prophylactic implantation is still unclear. AF in LVHT increases the embolic risk, thus it would be useful to know which LVHT patients who have sinusrhythm at baseline are prone to develop AF in order to start early with anticoagulant therapy.

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.

Neuromuscular and cardiac comorbidity determines survival in 140 patients with left ventricular hypertrabeculation/noncompaction

Background The prognosis of patients with left ventricular hypertrabeculation/noncompaction (LVHT) is controversial. We assessed cardiologic and neurologic predictors for mortality in LVHT patients and how many received implantable cardioverters/defibrillators(ICD) or cardiac resynchronization devices (CRT). Methods and results Included were patients with LVHT diagnosed echocardiographically between June 1995 and May 2009 . All patients underwent a baseline cardiologic examination, and were invited for a neurological investigation. During June 2009, the patients were contacted by telephone and their records were screened if they had received ICD or CRT. In 140 patients (29% females, mean age 53 ± 16, range 14–94 years) LVHT was diagnosed. The neurologic investigation, carried out in 76%, disclosed a neuromuscular disorder of definite ( n = 22) or unknown ( n = 68) etiology or was normal ( n = 16). During a follow-up of 4.5 years the mortality was 5.7%/year. Causes of death were heart failure( n = 11), pneumonia ( n = 6), sudden cardiac death ( n = 3), malignancy ( n = 3), pulmonary embolism( n = 2), sepsis ( n = 2), stroke ( n = 2), hepatic failure ( n = 1) or unknown ( n = 6). Sixteen patients received devices (ICD n = 4, CRT n = 3, ICD plus CRT n = 9). Predictors for mortality were increased age ( p = 0.0307), neuromuscular disorder of definite or unknown etiology ( p = 0.0063), exertional dyspnea ( p = 0.0018), edema ( p = 0.0000), heart failure ( p = 0.0002), ventricular ectopic beats ( p = 0.0119), atrial fibrillation ( p = 0.0000), low voltage ( p = 0.0139), presence of one or more ECG abnormalities ( p = 0.0420), left ventricular fractional shortening < 25% ( p = 0.0046), extension of LVHT ( p = 0.0063) and LVHT affecting the lateral wall ( p = 0.0110). Conclusion Mortality in LVHT is high and due to cardiac and neuromuscular comorbidity, why monitoring and therapy, including device therapy, should be improved.

Cardiac and neuromuscular implications of left bundle branch block in left ventricular hypertrabeculation/noncompaction

Left bundle branch block (LBB) is frequently found in left ventricular hypertrabeculation/noncompaction (LVHT). To compare LVHT patients with and without LBB regarding LVHT location and extension, left ventricular function, symptoms, electrocardiographic findings, prevalence of neuromuscular disorders (NMDs) and mortality during follow-up. The charts of patients who underwent transthoracic echocardiographic examination at the Krankenanstalt Rudolfstiftung (Wien, Austria) between June 1995 and November 2006 were examined. LVHT was diagnosed in 102 patients (30 women) with a mean (+/- SD) age of 53+/-16 years (range 14 to 94 years). A specific NMD was diagnosed in 21 patients and an NMD of unknown etiology was diagnosed in 47. The neurological investigation was normal in 14 patients and 20 patients refused the investigation. The 24 patients with LBB were older (61 versus 51 years of age; P<0.01), and suffered from exertional dyspnea (96% versus 59%; P<0.01) and heart failure (79% versus 46%; P<0.01) more often than patients without LBB. LBB patients had less frequent tall QRS complexes (8% versus 47%; P<0.01) and ST-T wave abnormalities (4% versus 50%; P<0.01) than patients without LBB. Patients with LBB had a larger left ventricular end-diastolic diameter (73 mm versus 61 mm; P<0.01), worse left ventricular fractional shortening (15% versus 26%; P<0.01) and more extensive LVHT (1.8 versus 1.5 ventricular segments; P<0.05). The prevalence of NMDs did not differ between patients with and without LBB. Survival did not differ between patients with and without LBB during follow-up. LBB is associated with increased age, decreased systolic function and increased extension of LVHT. Whether LBB is a prognostic factor in LVHT remains speculative.

Thorough search for myopathy increases the prevalence of noncompaction

To test the prevalence of neuromuscular disorders (NMDs) among patients with left ventricular hypertrabeculation/noncompaction (LVHT) it is essential to refer all LVHT patients to the neurologist, to thoroughly take their individual and family history, in particular for NMD, to examine them clinically, to determine creatine-kinase and other muscle enzymes, and to decide if more invasive investigations are necessary. Since NMDs may show up with only mild manifestations, particularly at onset, it is essential that an experienced neurologist, familiar with NMDs, conducts these investigations. It is also important that not only inpatients but also outpatients with LVHT are referred. Not only patients with cardiac symptoms should be referred to the neurologist but generally all LVHT patients and their first degree relatives. If LVHT patients are investigated thoroughly for NMDs its prevalence among LVHT patients will increase, which might contribute to clarifying the etiology of LVHT.

Prevalence of Barth syndrome in adult left ventricular hypertrabeculation / noncompaction

Objectives. Leukopenia, left ventricular hypertrabeculation/noncompaction (LVHT), cardiomyopathy, and myopathy are the clinical characteristics of Barth syndrome (BS). Aim of the present investigation was to determine the prevalence of these characteristics in a large cohort of adult LVHT patients. Material and methods. A retrospective review of the records of all patients in whom LVHT was diagnosed between 1995 and 2006 was carried out for the leukocyte and neutrophil granulocyte count, and the presence of dilated cardiomyopathy (dCMP) and myopathy. Results. Among 86 (50) LVHT patients in whom leukocyte (neutrophil granulocyte) counts were available, the leukocyte count was reduced (n, 4.0–9.0/nl) in three patients and the neutrophil granulocyte count reduced <50% in two patients. dCMP was diagnosed in 58 of the included patients. None of the three patients with a reduced leukocyte count and none of the two patients with reduced neutrophil granulocyte count had dCMP. One of the patients with reduced leukocyte count had Leber's hereditary optic neuropathy and the two others suspected metabolic myopathy. None of the 86 patients presented with all four classical features of BS. Conclusions. The presented data indicate that the prevalence of BS is either low among adult patients with LVHT or that BS cannot be diagnosed upon clinical findings alone.

Cardiac resynchronization therapy in left ventricular hypertrabeculation/non-compaction and myopathy

Little is known how patients with left ventricular hypertrabeculation/non-compaction (LVHT) and heart failure respond to cardiac resynchronization therapy (CRT). Included in this retrospective study were 8/102 patients (3 female, age range 43-78 years), in whom LVHT was diagnosed and in whom a CRT system was implanted. All eight patients were investigated neurologically and in seven of them a myopathy was found. The mean follow-up after CRT implantation was 39 (4-68) months. All patients improved by one or more New York Heart Association (NYHA) classes, and two by two NYHA classes. The left ventricular end-diastolic diameter decreased by < or =5% in 2 patients, by 6-10% in 3 patients, by 12% in 1 patient, and by >30% in 2 patients. The left ventricular systolic function, as assessed by the fractional shortening, did not change in 2 patients, increased by 10% in 2 patients, by 59% in 1 patient, doubled in 2 patients, and showed a five-fold increase in 1 patient. Two patients died during follow-up. CRT by biventricular pacing in LVHT, heart failure, and myopathy leads to improvement in functional capacity in all patients and improvement of systolic function in half of the patients. The weak response of LVHT patients to CRT may be due to inappropriate selection or comorbidities, in particular, neuromuscular disorders.

AB0 system and D(Rh o) antigen frequencies in left ventricular hypertrabeculation/noncompaction in relation to cardiac and neuromuscular findings

Background Left ventricular hypertrabeculation/noncompaction (LVHT) is a cardiac abnormality with suspected genetic background, characterized by trabeculations and intertrabecular recesses. Aim of the study in LVHT patients was to assess the AB0 system and D(Rh o) antigen frequencies, to look for an association between the prevalence of cardiac and neuromuscular abnormalities and to compare distribution of the AB0 system and D(Rh o) antigen frequencies with the Austrian general population. Methods and results In 77/102 LVHT patients (75%) information about blood group could be obtained. There were no differences in the prevalence of clinical, electrocardiographic and echocardiographic findings and neuromuscular disorders between the AB0 blood groups. When comparing 67 LVHT patients who were D(Rh o) antigen positive with 10 patients who were D(Rh o) antigen negative, no differences could be found. Among LVHT patients, 0 D(Rh o) antigen positive was the most frequent (39%) followed by A D(Rh o) antigen positive (34%). In the Austrian general population A D(Rh o) antigen positive was the most frequent (33%) followed by 0 D(Rh o) antigen positive (30%). Conclusion This study shows that LVHT patients do not differ according the blood groups, and that the distribution of blood groups is only minimally different between LVHT patients and the general Austrian population.

Cardiologic and neuromuscular co-morbidity influences mortality of patients with left ventricular hypertrabeculation/noncompaction: Comparison with the Austrian general population

Objective — Left ventricular hypertrabeculation/noncompaction (LVHT) is characterized by prominent trabeculations and intertrabecular recesses. LVHT patients suffer from heart failure, arrhythmias, chest pain and neuromuscular disorders (NMD). Data about long-term prognosis of LVHT are controversial.The aim of the study was to compare the mortality of LVHT patients with that of the Austrian general population and to assess which clinical and echocardiographic parameters influence mortality, and if mortality differs between patients with and without NMD.Methods and results — In 86patients LVHT was diagnosed echocardiographically between June 1995 and December 2004 (21 women, mean age 52±14, range 14 - 94years).A specific NMD was diagnosed in 21, a NMD of unknown aetiology in 33, the neurologic investigation was normal in 13 and 19patients refused examination. During a mean follow-up of 51months (range 3 – 106months) the mortality rate was 5.3%/year. Compared with the lifetable from the Austrian general population and considering the sex, the standardized mortality ratio (SMR) of LVHT patients was 5.584 (95% CI 3.562–8.754, p=0.000). The SMR was high in LVHT patients with NMD of unknown aetiology, who refused the neurologic investigation, with heart failure, diabetes mellitus, syncope, ventricular ectopic beats, pathologic Q waves, left anterior hemiblock, atrial fibrillation and low-voltage ECG. Patients with more extensive LVHT had a high SMR.Conclusions — Mortality in LVHT patients is higher than in the general population and cardiac and neurologic morbidity is the presumed cause for the increased mortality.