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Ainars Rudzitis, MD, PhD

Dr. Ainars Rudzitis is cardiologist at the Latvian Centre of Cardiology, Pauls Stradins Clincal University Hospital (Riga, LATVIA). His main field of interest is related to the diagnostics and treatment of pulmonary arterial hypertension, echocardiography, congenital and structural heart disease in adults and rare diseases in cardiology (Fabry disease, amyloidosis, myocarditis).
Ainars Rudzitis is author and co-author of several international publications in echocardiography, congenital heart disease and structural heart disease interventions.
His involvement in research currrently is associated with percutaneous transcatheter atrial septal defect closure, pulmonary hypertension, left atrial appendage closure in patients with atrial fibrillation for stroke prevention.

Intro to presentation

Rare causes of cardiac hypertrophy

Explained causes of cardiac hypertrophy are due to chronic afterload of the left ventricle (e.g., arterial hypertension, aortic stenosis, athlete’s heart, aortic coarctation) or right ventricle (e.g., pulmonic valve stenosis, pulmonary hypertension).
In the absence of obvious conditions leading to cardiac hypertrophy, hypertrophic cardiomyopathy (HCM) is considered. The prevalence of HCM  in population is 1:500 and in the majority of cases (up to 60%) in adolescents and adults it is caused by mutations in sarcomere protein genes.
In 5-10 % percent of adult cases HCM is caused by other genetic disorders including inherited metabolic and neuromuscular diseases,chromosome abnormalities and genetic syndromes. Some patients have non-genetic disorders that mimic genetic forms of the disease, for example, wild-type (wt-TTR) and (AL) amyloidosis.
In general rare causes of cardiac hypertrophy can be classified as:
1) storage diseases  (Fabry – Anderson disease (alfa-galaktozidase A deficiency), glicogen stoarage disease (Pompe), Danon disease (LAMP2 deficiency)
2) infiltrative diseases (amyloidosis, sarcoidosis, Hurler’s syndrome (mucopolysacharidosis, MPS I), fetty infiltration
3) neuromuscular diseases (Friedreichs’s ataxia)
4) mitochondrial diseases (MELAS, MERFF)
5) malformation syndromes (LEOPARD, Noonan, Costello etc.)
It is important to perform comprehensive clinical evaluation of patients with hypertrophic cardiomyopathy (including family history, imaging, genetic testing and histology) as it carries different prognosis and disease specific treatment options are available.