Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants

Nagel, Bert; Gruber-Sedlmayr, U; Uhrig, Sabine; Stöllberger, Claudia; Klopocki, Eva; Finsterer, Josef

doi:10.1186/1471-2350-13-60

Cited by 3 publications

(2 citation statements)

References 24 publications

(27 reference statements)

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“…The presence of ostium secundum ASD in our patient is possibly coincidental. However, seizures have been associated with ASD in patients with left ventricular hypertrabeculation [9], no evidence of which was found in echocardiography of the patient.…”

Section: Discussionmentioning

confidence: 88%

Seizures and lost pulses: an atypical case of Takayasu’s arteritis

Mukherjee¹,

Naskar²,

Chatterjee³

2014

IOSRJDMS

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Seizure is a rare neurological manifestation of Takayasu's arteritis (TA). This report is about a 15year old female patient, admitted with loss of consciousness, generalised seizures and hypertension. The patient had asymmetric peripheral pulses and unequal blood pressure in the arms. Doppler study showed diminished blood flow predominantly in left upper limb, while fluorescent aortogram revealed left subclavian artery stenosis. MRI was suggestive of posterior reversible encephalopathy syndrome (PRES). Electroencephalogram (EEG) report was consistent with cerebral dysrhythmia. The patient had coexistent ostium secundum atrial septal defect. Previous case reports attribute seizures to ischemia (caused by involvement of the carotid and vertebral arteries) and PRES in patients of TA. The presence of cerebral dysrhythmia after clinical improvement made the cause of seizure difficult to ascertain in our patient. The presence of atrial septal defect (ASD) was possibly coincidental.

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Section: Discussionmentioning

confidence: 88%

Seizures and lost pulses: an atypical case of Takayasu’s arteritis

Mukherjee¹,

Naskar²,

Chatterjee³

2014

IOSRJDMS

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“…For these reasons the diagnosis of a MND was switched to myopathy and neuropathy. There were no indications for a chromosomal defect which is also frequently associated with LVHT [6][7][8][9]. Indications for myopathy were muscle wasting, absent tendon reflexes, exercise-induced muscle aching, muscle cramping, facial dysmorphism, and LVHT.…”

mentioning

confidence: 94%

Noncompaction in alleged motor neuron disease suggests myopathy

Finsterer

Stöllberger

2014

International Journal of Cardiology

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Left ventricular noncompaction cardiomyopathy: cardiac, neuromuscular, and genetic factors

2017

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Left ventricular hypertrabeculation (LVHT) or noncompaction is a myocardial abnormality of unknown aetiology, frequently associated with monogenic disorders, particularly neuromuscular disorders, or with chromosomal defects. LVHT is diagnosed usually by echocardiography by the presence of a bilayered myocardium consisting of a thick, spongy, noncompacted endocardial layer and a thin, compacted, epicardial layer. The pathogenesis of LVHT is unsolved, and the diagnostic criteria, prognosis, and optimal treatment of patients with LVHT are under debate. LVHT is categorized as distinct primary genetic cardiomyopathy by the AHA and as unclassified cardiomyopathy by the ESC. LVHT is usually asymptomatic, but can be complicated by heart failure, thromboembolism, or ventricular arrhythmias, including sudden cardiac death. Mortality of patients with LVHT ranges from 5% to 47%. Anticoagulation is indicated if atrial fibrillation, severe heart failure, previous embolism, or intracardiac thrombus formation are present. In patients with LVHT with late gadolinium enhancement, an implantable cardioverter-defibrillator might be considered if systolic dysfunction, a family history of sudden cardiac death, nonsustained ventricular tachycardia, or previous syncope is additionally present. In this Review, we discuss the current findings on the aetiology and pathophysiology of LVHT, and provide an overview of the diagnosis, available treatment, and prognosis of this cardiomyopathy.

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Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants

Cited by 3 publications

References 24 publications

Seizures and lost pulses: an atypical case of Takayasu’s arteritis

Seizures and lost pulses: an atypical case of Takayasu’s arteritis

Noncompaction in alleged motor neuron disease suggests myopathy

Left ventricular noncompaction cardiomyopathy: cardiac, neuromuscular, and genetic factors

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