Hellenic J Cardiol. 2026 Apr 3:S1109-9666(26)00077-1. doi: 10.1016/j.hjc.2026.03.007. Online ahead of print.
ABSTRACT
Naxos disease and related cardiocutaneous syndromes are rare inherited desmosomal disorders in which characteristic cutaneous features, most notably woolly hair and palmoplantar keratoderma, precede myocardial involvement, providing a unique opportunity for early cardiac detection. Most caused by pathogenic variants in JUP and DSP, these conditions progress to arrhythmogenic cardiomyopathy with heterogeneous right-, left-, or biventricular phenotypes and a recognised contribution of myocardial inflammation. Accurate phenotypic definition, early identification of cardiac involvement, and longitudinal risk stratification therefore depend on an integrated, multimodality imaging strategy. This review presents a clinically oriented, stepwise imaging pathway for patients and families with Naxos disease and related cardiocutaneous syndromes, developed within the framework of the NAXCARE clinical outcome registry. Transthoracic echocardiography serves as the first-line modality for baseline evaluation and family screening, particularly in heterozygous carriers, but has limited sensitivity for early, left-dominant, or inflammatory disease. Cardiovascular magnetic resonance is central to comprehensive biventricular assessment and tissue characterisation, enabling detection of high-risk late gadolinium enhancement patterns and myocarditis-like inflammatory "hot phases." Cardiac computed tomography and 18F-FDG positron emission tomography provide complementary, problem-solving information in selected clinical scenarios.
PMID:41936932 | DOI:10.1016/j.hjc.2026.03.007