Whenever such a mutation is identified, family-specific genetic testing can be used to identify relatives at-risk for the disease, although clinical severity and age of onset cannot be predicted.An insertion/deletion polymorphism in the gene encoding for angiotensin converting enzyme (ACE) alters the clinical phenotype of the disease. The D/D (deletion/deletion) genotype of ACE is associated with more marked hypertrophy of the left ventricle and may be associated with higher risk of adverse outcomes.Some mutations could have more harmful potential compared to others (β-myosin heavy chain). For example, troponin T mutations were originally associated with a 50% mortality before the age of 40. However, a more recent and larger study found a similar risk to other sarcomeric protein mutations. The age at disease onset of HCM with MYH7 is earlier and leads to more severe symptoms. Moreover, mutations on troponin C can alter Ca+2 sensibility on force development in cardiac muscle, these mutations are named after the amino acid that was changed after the location in which it happened, such as A8V, A31S, C84Y and D145E. Diagnosis
A diagnosis of hypertrophic cardiomyopathy is based upon a number of features of the disease process. While there is use of echocardiography, cardiac catheterization, or cardiac MRI in the diagnosis of the disease, other important considerations include ECG, genetic testing (although not primarily used for diagnosis), and any family history of HCM or unexplained sudden death in otherwise healthy individuals.
Raising the urinary pH to a level higher than 7 (alkalinization) is often difficult to attain, although sodium bicarbonate and/or acetazolamide are sometimes used in an attempt to increase uric acid solubility. Dialysis (preferably hemodialysis) is started if the above measures fail. References
Conger JD (1990). "Acute uric acid nephropathy". Med Clin North Am. 74 (4): 859–71. PMID 2195258. Robinson RR, Yarger WE (1977). "Acute uric acid nephropathy". Arch Intern Med. 137 (7): 839–40. doi:10.1001/archinte.137.7.839. PMID 879920. Yu AS, Brenner BM (2005). "Chapter 266: Tubulointerstitial diseases of the kidney". In Kasper DL, Braunwald E, Fauci A, Hauser S, Longo D, Jameson JL (eds.). Harrisons Principles of Internal Medicine (16th ed.). New York: McGraw-Hill Professional. ISBN 978-0-07-140235-4