Thorac Cardiovasc Surg 2017; 65(S 02): S111-S142
DOI: 10.1055/s-0037-1598994
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Predictive Genotype Testing in Pediatric Healthy Phenotypes with Family History of ARVC-5: Initiation of Early Detection, Future Therapeutic Strategies, or Just Scaring?

K.T. Laser
1   Center for Congenital Heart Defects, Ruhr University Bochum, Bad Oeynhausen, Germany
,
D. Kececioglu
1   Center for Congenital Heart Defects, Ruhr University Bochum, Bad Oeynhausen, Germany
,
H. Milting
2   Erich und Hanna Klessmann-Stiftung für Kardiovaskuläre Forschung und Entwicklung, Ruhr University Bochum, Bad Oeynhausen, Germany
› Author Affiliations
Further Information

Publication History

Publication Date:
02 February 2017 (online)

Objectives: Autosomal dominant TMEM43-p.S358L mutation encoding for the ER-protein LUMA is a highly malignant fully penetrant missense mutation with a deleterious clinical phenotype causing ARVC5 and unpredictable sudden cardiac death especially in males. Syncopes were reported even in underaged males. To understand the disease course and the impact of imaging methods for the identification of the disease onset a close follow up of underaged carriers is of major relevance.

Methods: Three underaged mutation carriers were predictively tested for the Newfoundland mutation TMEM43 p.S358L (12 and 15 years old male, 18 years old female) but are currently without clinical phenotype. We repeatedly examined these carriers by ECG, Holter-ECG, echocardiography including deformation imaging, tissue Doppler, 3D-echo and cardiac MRI including volumetric data and vitality scan for 6 years of follow-up.

Results: Predictive testing of the underaged in combination with the family history had psychosocial impact for the kids. Of note, at present there were no significant early changes in morphologic, functional or electric alterations in all 3 adolescents. Task force criteria for ARVC were not fulfilled yet. Patients could be reassured concerning normal physical activities apart from competitive sports. Neither Beta blockade has been established nor ICDs have been implanted.

Conclusion: The advantage of predictive testing in these upcoming patient groups is the possibility of early detection of disease to redefine the role of different established new imaging technologies as well as the reassurance of actual healthiness. On the other hand these adolescents have to cope with the problem of upcoming cardiac disease and the timing of medical as well as ICD-therapy has to be redefined. We recommend predictive testing of ARVC5 not before the age of ten years.