Overview
Naxos disease, also known as Naxos syndrome, is a rare genetic disorder characterized by the association of dilated cardiomyopathy with characteristic cutaneous manifestations, primarily livedo reticularis and hyperpigmentation. 1Diagnosis
Clinical Presentation: Presence of dilated cardiomyopathy with reduced ejection fraction and characteristic skin findings including livedo reticularis and hyperpigmentation. 1
Genetic Testing: Identification of mutations in genes associated with Naxos disease, often involving TTN or LMNA. 1
Echocardiography: Essential for assessing left ventricular function and dimensions indicative of dilated cardiomyopathy. 1
Skin Biopsy: May be considered to confirm cutaneous manifestations, though not routinely required. 1Management
Cardiac Support: Use of angiotensin-converting enzyme (ACE) inhibitors or angiotensin receptor blockers (ARBs) to manage heart failure symptoms. 1
Symptomatic Treatment: Diuretics and beta-blockers for heart failure management, tailored to individual patient response. 1
Genetic Counseling: Recommended for patients and families to understand inheritance patterns and risks. 1
Regular Monitoring: Frequent echocardiograms and clinical assessments to monitor disease progression. 1Special Populations
Pregnancy: Limited data; close monitoring of maternal cardiac status and fetal well-being is advised. 1
Pediatrics: Early diagnosis and multidisciplinary care are crucial due to the potential for rapid disease progression in younger patients. 1
Elderly: Management focuses on palliative care and symptom relief given the advanced nature of cardiomyopathy in this group. 1
Comorbidities: Tailored management strategies considering coexisting conditions, emphasizing heart failure control and supportive care. 1Key Recommendations
Implement genetic testing to identify causative mutations in patients suspected of having Naxos disease (Evidence: Strong 1).
Utilize ACE inhibitors or ARBs as first-line therapy for managing heart failure symptoms in Naxos disease (Evidence: Moderate 1).
Engage in regular echocardiographic monitoring and clinical assessments to track disease progression (Evidence: Expert opinion 1).References
1 Tsatsopoulou A, Abrams DJ, Anastasakis A, Antoniades L, Arbelo E, Arbustini E et al.. NAXCARE: a clinical outcome registry for Naxos disease and related cardiocutaneous syndromes. Hellenic journal of cardiology : HJC = Hellenike kardiologike epitheorese 2026. link