Updated Diagnostic Criteria for Tuberous Sclerosis Complex (TSC)

Tuberous sclerosis complex (TSC) is highly variable in clinical presentation and findings. Disease manifestations continue to develop over the lifetime of an affected individual. Accurate diagnosis is fundamental to implementation of appropriate medical surveillance and treatment. Continue reading

Diagnostic Criteria for Vasospastic Angina (VSA)

Vasospastic angina (VSA) is a variant form of angina pectoris, in which angina occurs at rest, with transient electrocardiogram modifications and preserved exercise capacity. VSA can be involved in many clinical scenarios, such as stable angina, sudden cardiac death, acute coronary syndrome, arrhythmia or syncope. Continue reading

Criteria for the Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy that predominantly affects the right ventricle. With a prevalence in the range of 1:5000 to 1:2000 persons, ARVC is one of the leading causes of sudden cardiac death in young people and in athletes. Continue reading

Diagnostic Criteria for Behavioural Variant Frontotemporal Dementia

Frontotemporal dementia (FTD) is a neurodegenerative disorder mainly affecting the frontal and/or temporal lobes, leading to dementia with prominent behavioural and/or language disturbances. Symptom onset is most often between 45 and 65 years. Continue reading

Diagnostic Criteria for Chronic Rhinosinusitis with Nasal Polyps

Nasal polyps are benign inflammatory masses, arising from the mucosa of the nose and paranasal sinuses. They are considered to be a subgroup of chronic rhinosinusitis, and clinical diagnosis is made on the basis of the presence of sinonasal symptoms for more than 3 months and the visualization of polyps in the nasal cavity. Continue reading

Criteria to Initiate Evaluation for Growth Hormone Deficiency (GHD)

Tools for the diagnosis of GHD include auxology, radiographic assessment of bone age, measurement of insulin-like growth factor 1 (IGF-I) and IGF binding protein 3 (IGFBP-3), provocative growth hormone (GH) testing, cranial magnetic resonance imaging (MRI), and, in certain cases, genetic testing. Growth velocity and the degree of short stature are primary considerations in the decision to pursue evaluation for GHD. Continue reading