F amilial hypertrophic cardiomyopathy (FHC) is typically characterised by left ventricular hypertrophy, diastolic dysfunction, and hypercontractility, and is often associated with disabling symptoms, arrhythmias, and sudden death. FHC shows both non-allelic and allelic genetic heterogeneity, and results from any one of more than 100 mutations in genes encoding sarcomeric proteins. Identified ge...

New developments in diagnosis aid in the treatment and have improved the outlook for those patients with sensorineural hearing loss. Not all such hearing loss is untreatable and it should be approached systematically and enthusiastically. Thorough evaluation should be performed in all patients.

INTRODUCTION Sudden sensorineural hearing loss is an unusual presenting clinical feature of systemic lupus erythematosus. CASE REPORT We report the case of a young woman who was admitted to hospital for sudden sensorineural hearing loss and hemophagocytic syndrome which was attributed to systemic lupus erythematosus on the basis of specific renal involvement, thrombocytopenia, and consistent ...

Sjögren's syndrome (SS) is a cell-mediated immune disorder primarily affecting the exocrine glands and hearing loss may be the first otological manifestation of this autoimmune disease. In order to assess the degree of sensorineural hearing loss in SS, 22 female patients were examined by means of standard audiometric tests (pure-tone audiometry, acoustic reflexes and impedance testing) and usin...

We describe a 7-month-old male with atypical features of autosomal recessive distal renal tubular acidosis (dRTA) with sensorineural hearing loss. Uncharacteristically, he presented with mild acidosis, hypokalaemia and hypocalciuria as well as unilateral sensorineural hearing loss. Subsequent investigations led to the discovery of both hyperoxaluria and beta2-microglobulinuria, thereby expandin...

Five adult siblings presented with autosomal recessive sensorineural hearing loss: two had high-frequency loss, whereas the other three had severe-to-profound loss affecting all frequencies. Genetic evaluation revealed that a homozygous mutation in CDH23 (which encodes cadherin 23) caused the hearing loss in all five siblings and that a heterozygous, hypofunctional variant (V586M) in plasma-mem...

1. Review the patterns of hearing loss in hereditary hearing impairment. AL First, we must understand that genetic hearing loss seems to breach all categories of hearing loss, including the following: congenital, progressive, and adult onset; conductive, sensory, and neural; syndromic and nonsyndromic; high-frequency, low-frequency, or mixed frequency; and mild or profound. Genetic hearing loss...

The antiphospholipid syndrome is the association between the presence of antiphospholipid antibodies, thrombosis and/or pregnancy morbidity and mortality. This report presents two cases of antiphospholipid antibodies and sensorineural hearing loss and discusses the probable causative link. We recommend that patients presenting with sudden sensorineural hearing loss are investigated for evidence...

A 48-year-old Chinese woman presented with progressive right-sided sensorineural hearing loss. Computerised tomography showed asymmetrical widening of the right internal acoustic canal. Post-gadolinium magnetic resonance images demonstrated marked enhancement of an intracanalicular tumour. The diagnosis of acoustic neuroma was confirmed surgically. The approach to imaging of deafness, particula...

Acute sensorineural hearing loss may appear in some autoimmune diseases. Authors presented a case of 31 years old pregnant woman with Leśniowski-Crohn disease, in who acute total deafness of one ear and sensorineural hearing loss in the second ear appeared after she got pregnant. Immunological etiology was confirmed by presence of antinuclear and anti-type II collagen antibodies. Hearing level ...