What causes Naxos disease?

Mutations in the genes encoding the desmosomal proteins plakoglobin and desmoplakin have been identified as the cause of Naxos disease.

What are symptoms of ARVC?

What are the symptoms of ARVC?

• Fainting.
• Heart palpitations with unpleasant awareness of the heartbeat.
• Dizziness.
• Shortness of breath with exertion or when lying down.
• Chest pain.
• Fatigue.
• Swelling in the legs and other areas.
• Persistent cough.

What is Carvajal syndrome?

Carvajal syndrome is characterized by woolly hair, striate palmoplantar keratoderma and left-sided ventricular cardiomyopathy leading to sudden cardiac death. It is inherited as autosomal recessive disorder due to defect in desmoplakin gene.

What is Epsilon wave?

The epsilon wave is a small deflection buried in the end of the QRS complex and represent a delay in the depolarisation of the right ventricular free wall.

What is woolly hair syndrome?

Woolly Hair is an uncommon congenital anomaly of the scalp hair presenting with strongly coiled hair involving a localized area of the scalp or covering the entire side and occurring in non-black people. Isolated or localized wooly hair is usually benign and is not related to other disorders and/or complications.

Is ARVC inherited?

ARVC is inherited as an autosomal dominant trait, meaning that the risk of a family member inheriting an abnormal gene is 50\% for all offspring of the genetically affected proband, whether male or female.

How do you test for ARVC?

Diagnosing ARVC is challenging and requires a combination of diagnostic tests. Non-invasive testing testing may include an electrocardiogram to measure the heart’s electrical patterns and echocardiogram or cardiac magnetic resonance imaging (MRI) to visualize changes in the heart structure.

What is Howel Evans syndrome?

Howel-Evans syndrome, also known as Clarke-Howel-Evans-McConnell syndrome, is a rare genetic disorder characterized by nonepidermolytic palmoplantar keratoderma (NEPPK), oral leukoplakia, and an increased risk of squamous cell carcinoma of the esophagus.

What is an Osborn?

A J wave — also known as Osborn wave, camel-hump sign, late delta wave, hathook junction, hypothermic wave, K wave, H wave or current of injury — is an abnormal electrocardiogram finding.

What causes J waves on ECG?

There are four principal causes of J waves, namely hypothermia, Brugada syndrome, early repolarization and hypercalcemia. Figure 1. Osborn wave (J wave). These waves occur due to hypothermia, hypercalcemia, early repolarization and Brugada syndrome.

What is loose anagen syndrome?

Loose anagen syndrome was first described in 1984. It is a hair disorder characterized by anagen hairs of abnormal morphology that are easily and painlessly pulled or plucked from the scalp. Hair is thinned in appearance and typically does not grow beyond the nape of the neck.

What is the history of Naxos disease?

Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma. The disease was first described in families originating from the Greek island of Naxos.

What is Naxos disease (Carvajal syndrome)?

A variety of Naxos disease, reported as Carvajal syndrome [ 6 ], has been described in families from India and Ecuador [ 10, 11 ]. It clinically presents at younger age with predominantly left ventricular involvement leading to early heart failure and exhibits a clinical phenotype similar to that of dilated cardiomyopathy [ 11, 12 ].

What is the cutaneous phenotype of Naxos disease?

Cutaneous phenotype of Naxos disease: woolly hair (A), palmar (B) and plantar (C) keratoses. This article may be too technical for most readers to understand.