1. Learning from tragedy – The Jessica Barnett story: challenges in the diagnosis of long QT syndrome
- Author
-
Tanya Barnett, Andrew P J Olson, and Mark L. Graber
- Subjects
medicine.medical_specialty ,Adolescent ,Long QT syndrome ,media_common.quotation_subject ,Clinical Biochemistry ,Medicine (miscellaneous) ,01 natural sciences ,Syncope ,Right ventricular cardiomyopathy ,03 medical and health sciences ,0302 clinical medicine ,medicine ,Humans ,030212 general & internal medicine ,Girl ,0101 mathematics ,Psychiatry ,media_common ,biology ,business.industry ,Health Policy ,010102 general mathematics ,Biochemistry (medical) ,Public Health, Environmental and Occupational Health ,Syncope (genus) ,medicine.disease ,biology.organism_classification ,Congenital long QT syndrome ,Long QT Syndrome ,Tragedy (event) ,Female ,business ,Anxiety disorder - Abstract
We describe the case of Jessica Barnett, an adolescent girl whose repeated episodes of syncope and near-syncope were ascribed to a seizure or anxiety disorder. The correct diagnoses (congenital long QT syndrome; arrythmogenic right ventricular cardiomyopathy) were established by autopsy and genetic studies only after her death at age 17. The perspective of the family is presented, along with an analysis of what went right and what went wrong in Jessica’s diagnostic journey. Key lessons in this case include the value of family as engaged members of the diagnostic team, that a ‘hyperventilation test’ should not be used to exclude cardiac origins of syncope or pre-syncope, and the inherent challenges in the diagnosis of the long QT syndrome.
- Published
- 2021