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Juvenile, 'cryptogenic' stroke from left-ventricular hypertrabeculation/noncompaction (LVHT) missed on transthoracic echocardiography (TTE) but present on transesophageal echocardiography (TEE) has not been reported before. A 31-year-old Caucasian male experienced a small acute embolic ischemic stroke in the anterior territory of the left median-cerebral artery. He had a history of epilepsy until the age of 12 years with rare seizures, headache 6 weeks prior to admission and a speech disturbance lasting 2 h. He smoked 20 cigarettes per day. An intensive diagnostic work-up including TTE did not reveal the cause of the stroke. Upon TEE, however, LVHT was found. Cardiac MRI did not reveal intraventricular thrombi. There were mild indications for a neuromuscular disorder. LVHT may be a risk factor for cardioembolic stroke. Patients with cryptogenic stroke and normal TTE should undergo TEE. Patients with LVHT should undergo neurological investigation to look for neuromuscular disorders. © 2014 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Objectives: Little is known about the ultrastructural abnormalities of left ventricular hypertrabeculation/noncompaction (LVHT). This literature review aimed to summarize and discuss ultrastructural abnormalities described in LVHT so far. Methods: The literature search was conducted via MEDLINE using the search terms 'non-compaction', 'noncompaction', 'left ventricular hypertrabeculation', 'spongy myocardium' in combination with the terms 'ultra-structural', or 'electron microscopy'. Results: Altogether, 11 studies reporting ultrastructural investigations of LVHT were retrieved. In these 11 studies, data on 13 patients with LVHT were presented. Ultrastructural abnormalities found in these study patients were generally nonspecific and included an increase in the number of mitochondria (n = 3), abnormally shaped mitochondria (n = 2), distorted cristae (n = 3), sarcomeric derangement (n = 3), immature cardiomyocytes (n = 1), lipid-like inclusions (n = 1), enlarged interstitial spaces (n = 1), increased interstitial collagen (n = 1), or increased glycogen (n = 1). The morphological abnormalities were most prominent in patients with a neuromuscular disorder like Barth syndrome or mitochondrial myopathy. Conclusions: Only in few patients with LVHT, ultrastructural investigations have been performed so far. Ultrastructural abnormalities in LVHT are nonspecific and most prominent in patients with a neuromuscular disorder. There is a strong need to carry out thorough ultrastructural investigations of LVHT to contribute to the understanding of this still unexplained myocardial abnormality. © 2013 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Objectives: Disappearance of left ventricular hypertrabeculation (LVHT) over time has been occasionally recognized, but absence on echocardiography and autopsy and presence on histological examination after autopsy has not been reported. Methods: Routine investigations such as chocardiography, cardiac MRI and coronary angiography were applied. Autopsy studies included macroscopic inspection and dissection but also histological work-up. Results: In a 64-year-old male, LVHT was diagnosed at age 51 years during diagnostic work-up for hypertrophic cardiomyopathy. He had a history of mitochondrial myopathy which was diagnosed long before the cardiac problem became evident. Thickening of the left ventricular myocardium increased over years, resulting also in thickening of the trabeculations and the disappearance of the intertrabecular recesses. This is why LVHT was no longer visible on echocardiography shortly before death at age 64 years. The autopsy revealed that macroscopically no LVHT was visible but upon histological work-up the preformed recesses were still visible but had become unfolded. Conclusions: This case shows that LVHT may disappear due to thickening of the trabeculations but may remain visible on postmortem histological examination in patients with hypertrophic cardiomyopathy from a mitochondrial myopathy. Copyright © 2013 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

We report a clinical case of a young female with Fabry disease but without left ventricular hypertrophy, which fulfills the diagnostic criteria of left ventricular noncompaction (LVNC). To our knowledge, this is the first report of LVNC in a patient with Fabry disease. The possibility of an overdiagnosis of LVNC is discussed based on the limitations of the current diagnostic criteria. This case was further investigated by genetic analysis, which came to demonstrate the limited usefulness of genetic testing in the diagnosis of LVNC. Assuming a true trabecular pattern of LVNC, the hypothesis that the same patient has two unrelated and rare conditions, although possible, is unlikely. The genetic and clinical heterogeneity of LVNC is discussed and supports, along with this clinical case, the hypothesis that LVNC is a morphological expression of different diseases rather than a distinct cardiomyopathy. Accordingly, LVNC could be a rare cardiac manifestation of Fabry disease. Copyright © 2011 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

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. Copyright © 2011 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Dystrophinopathies are due to mutations in the dystrophin gene on chromosome Xp21.1 and comprise the allelic entities Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and X-linked dilative cardiomyopathy (XLDCM). In all three entities, the heart is affected to various degrees, depending on the stage of the disease and the type of the mutation (cardiac involvement, CI). The pathoanatomic evidence of CI in dystrophinopathies is the replacement of myocardium by connective tissue or fat. In DMD/BMD, the left ventricular posterobasal and lateral walls are most extensively affected, sparing the right ventricle and the atrium. Degree and dynamics of CI vary among the three entities. In DMD/BMD, CI usually remains subclinical in the early stages of the disease. Typical initial manifestations of CI in DMD/BMD are sinus tachycardia, tall R1 in V1, prominent Q in I, aVL, V6 or in II, III, and aVF, increased QT dispersion and possibly autonomic dysfunction. Initially, echocardiography is normal or shows regional wall motion abnormalities in areas of fibrosis. With spreading of fibrosis, left ventricular dysfunction and ventricular arrhythmias additionally occur. In the final stages of the disease, systolic function may lead to heart failure and sudden death. Subclinical or clinical CI is present in about 90% of the DMD/BMD patients but is the cause of death in only 20% of the DMD and 50% of the BMD patients. XLDCM is a rapidly progressive, almost exclusively myocardial disorder, starting in teenage males as heart failure due to dilative cardiomyopathy (CMP), leading to death from intractable heart failure within 1–2 years after diagnosis. Therapy of arrhythmias and CMP in all three disorders follows the established cardiological recommendations. Due to its protective effect, ACE inhibitors are recommended already at the early stages of the disease. β-Blockers may be an additional option if indicated.Copyright © 2003 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Noncompaction of the ventricular myocardium is a rare congenital cardiomyopathy, which appears to represent an arrest in intrauterine endomyocardial morphogenesis. It is diagnosed both in children and adults. Its common presentation involves heart failure symptoms, ventricular tachyarrhythmias and thromboembolic events, but the age of onset varies widely. The diagnosis is made by the combined appearance of numerous, excessively prominent trabeculations and multiple deep intertrabecular recesses perfused from the ventricular cavity, commonly involving the apical and midventricular segments of the left ventricle. Although the peculiar echocardiographic picture may possibly lead to the correct diagnosis, this condition may be often misdiagnosed or unrecognized since it is not widely known.Copyright © 2002 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]