What is the diagnosis for a patient with cardiomyopathy and keratoderma (keratinization of the skin)?

From the Guidelines

The condition described as cardiomyopathy with keratoderma is likely Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) with associated keratoderma, also known as Naxos disease or Carvajal syndrome 1.

Key Characteristics

• Autosomal recessive inheritance: This condition can be inherited in an autosomal recessive pattern, emphasizing the importance of genetic counseling 1.
• Keratoderma symptoms: Topical treatments, such as urea or salicylic acid creams, may be used to manage keratoderma symptoms, and in severe cases, oral retinoids (e.g., acitretin 10-25 mg daily) may be prescribed under close supervision due to potential side effects.

Management and Treatment

• Avoid strenuous exercise: Patients with this condition should avoid strenuous exercise and competitive sports to reduce the risk of sudden cardiac death.
• Medications: Medications such as beta blockers (e.g., metoprolol 25-50 mg twice daily) may be prescribed to control heart rhythm and reduce symptoms.
• Implantable cardioverter-defibrillator (ICD): In some cases, an ICD may be recommended to prevent sudden cardiac death.
• Regular cardiac monitoring: Regular cardiac monitoring, including electrocardiograms (ECGs) and echocardiograms, is essential to assess disease progression and guide treatment. Some key points to consider in the management of this condition include:
• The importance of genetic counseling due to the autosomal recessive inheritance pattern 1.
• The need for regular cardiac monitoring to assess disease progression and guide treatment.
• The potential use of oral retinoids for severe keratoderma symptoms, under close supervision due to potential side effects.

From the Research

Diagnosis of Cardiomyopathy and Keratoderma

The diagnosis for a patient with cardiomyopathy and keratoderma (keratinization of the skin) can be attributed to several rare genetic disorders.

• Carvajal syndrome is a rare autosomal recessive cardiocutaneous disorder caused by a desmosomal mutation in exon 24 of the desmoplakin gene, characterized by woolly hair, epidermolytic palmoplantar keratoderma, and arrhythmogenic right ventricular cardiomyopathy or dilated cardiomyopathy 2.
• Naxos disease is another autosomal recessive, inherited, cardiocutaneous disorder, characterized by arrhythmogenic right ventricular cardiomyopathy, woolly hair, and palmoplantar keratoderma 3, 4.
• Both Carvajal syndrome and Naxos disease are caused by mutations in the genes encoding the desmosomal proteins plakoglobin and desmoplakin, leading to cell death, progressive loss of myocardium, and fibro-fatty replacement 4.

Clinical Presentation

The clinical presentation of these disorders includes:

• Cutaneous manifestations such as woolly hair and palmoplantar keratoderma 2, 3, 5, 4
• Cardiac manifestations such as arrhythmogenic right ventricular cardiomyopathy, dilated cardiomyopathy, and heart failure 2, 3, 5, 4
• Symptoms such as syncope, sustained ventricular tachycardia, and sudden death 3, 4

Diagnosis and Treatment

Diagnosis can be made through:

• Clinical evaluation of cutaneous and cardiac findings 2, 3, 5
• Molecular genetic evaluation to identify desmoplakin gene mutations 2
• Electrocardiography and echocardiography to assess cardiac function 2, 3 Treatment options include:
• Lifestyle modification and regular clinical monitoring with pharmacotherapy to prevent sudden cardiac death 5
• Implantation of an automatic cardioverter defibrillator for prevention of sudden cardiac death 4
• Antiarrhythmic drugs and classical pharmacological treatment for congestive heart failure 4
• Heart transplantation at the end stages of the disease 4