Living with Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
A rare genetic syndrome with woolly hair, thick skin on the palms and soles, and a weakened, stretched heart muscle.
Understanding Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Woolly hair is present at birth. Thick skin on the palms and soles (palmoplantar keratoderma) develops in the first year of life. Dilated cardiomyopathy, where the heart muscle stretches and thins, mostly on the left side, develops in childhood and can lead to heart failure. It is an ectodermal dysplasia.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Woolly (kinked) hair from birth
- Patchy thick skin on the palms and soles
- Stretched, thinned heart muscle (dilated cardiomyopathy)
- Heart failure in some people
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists, gum, teeth and mouth specialists, heart and blood vessel specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in DSP are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Children's Cardiomyopathy Foundation and National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Gum, teeth and mouth specialists (odontologists); Heart and blood vessel specialists (cardiologists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Children's Cardiomyopathy Foundation, National Foundation for Ectodermal Dysplasias
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Children's Cardiomyopathy Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the DSP gene cause this condition. It can be inherited in a dominant way (one changed copy of the gene) or a recessive way (a changed copy from each parent).
Also known as: arrhythmogenic cardiomyopathy with woolly hair and keratoderma; carvajal syndrome; dcwhk; dilated cardiomyopathy with woolly hair and keratoderma; dilated cardiomyopathy with wooly hair and keratoderma; keratoderma with woolly hair type ii
Patient organizations
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- Children's Skin Disease FoundationSkin diseases · United States
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