JACC. Case reports · 2025
Epidermolysis Bullosa Related to the KLHL24 Gene: A Rare Pediatric Manifestation of Arrhythmogenic Cardiomyopathy.
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Cantarutti Nicoletta, Di Marzio Sara, El Hachem May, Diociaiuti Andrea, Ingrasciotta Gessica, Cicenia Marianna, Battipaglia Irma, Secinaro Aurelio, Drago Fabrizio, Adorisio Rachele
Аннотация
BACKGROUND: Epidermolysis bullosa simplex (EBS) is a rare inherited skin disorder. Mutations in the KLHL24 gene have been reported in a unique EBS subtype that is associated with dilated cardiomyopathy and sudden cardiac death, usually in early adulthood.
CASES SUMMARY: We describe 2 pediatric patients affected by EBS-KLHL24 who developed arrhythmogenic cardiomyopathies. Electrocardiogram and exercise stress test documented polymorphic ectopic beats. Cardiac magnetic resonance showed diffuse biventricular late gadolinium enhancement. Both patients required medical treatment, and one of the patients received an implantable cardioverter-defibrillator for primary prevention owing to nonsustained ventricular tachycardia.
DISCUSSION: The emerging picture is that KLHL24 mutation causes a desminopathy characterized by a cardiocutaneous syndrome, with onset in pediatric age, in which cardiomyopathy and arrhythmias are dominant.
TAKE-HOME MESSAGE: Given the potential early onset and the rapid progression of EBS-KHLH24 cardiomyopathy, with the high risk of life-threatening arrhythmias and sudden cardiac death, routine cardiac screening at an early age is recommended.
CASES SUMMARY: We describe 2 pediatric patients affected by EBS-KLHL24 who developed arrhythmogenic cardiomyopathies. Electrocardiogram and exercise stress test documented polymorphic ectopic beats. Cardiac magnetic resonance showed diffuse biventricular late gadolinium enhancement. Both patients required medical treatment, and one of the patients received an implantable cardioverter-defibrillator for primary prevention owing to nonsustained ventricular tachycardia.
DISCUSSION: The emerging picture is that KLHL24 mutation causes a desminopathy characterized by a cardiocutaneous syndrome, with onset in pediatric age, in which cardiomyopathy and arrhythmias are dominant.
TAKE-HOME MESSAGE: Given the potential early onset and the rapid progression of EBS-KHLH24 cardiomyopathy, with the high risk of life-threatening arrhythmias and sudden cardiac death, routine cardiac screening at an early age is recommended.