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Fibromuscular Dysplasia Signs and symptoms Renal – Hypertension,ischemic
nephropathy , Kidney Failure Neurological –1. Blurred vision or vision loss 2. Dizziness (vertigo) 3. Headache 4. Neck pain 5. Ringing in the ears (tinnitus)
Monckeberg medial calcific sclerosis Older than 50 yrs Mostly in Radial / Ulnar arteries Pipe stem arteries May have association with Osteoporosis Mostly not clinically significant
Homocystinemia Vascular abnormalities • Ischemic stroke and transient ischemic attack • Myocardial infarction • Peripheral vascular disease • Deep venous thrombosis • Pulmonary embolism • Cerebral venous thrombosis Neurologic abnormalities • Ischemic stroke and transient ischemic attack • Cerebral venous thrombosis • Mental retardation • Psychiatric disorders • Seizures Ocular abnormalities • Dislocation of lens • Myopia • Retinal Detachment • Glaucoma • Cataracts • Corneal abnormalities Skeletal abnormalities • Osteoporosis • Scoliosis • Increased length of long bones • Pes cavus • Arachnodactyly Other abnormalities • Fatty infiltration of liver • Endocrine abnormalities • Myopathy
11 beta hydroxylase deficiency Form of Congenital Adrenal Hyperplasia 11β-OH CAH results in hypertension due
to excessive mineralocorticoid effects. It also causes excessive androgen production both before and after birth and can virilize a genetically female fetus or a child of either sex.
Liddle Syndrome Pseudoaldosteronism AD early, and frequently severe, hypertension associated with
low plasma renin activity, metabolic alkalosis due to hypokalemia, and hypoaldosteronism (low secretion of aldosterone).[2] It is one of several conditions with this unusual set of characteristics known collectively as pseudohyperaldosteronism
abnormal kidney function, with excess reabsorption of sodium and loss of potassium from the renal tubule,
Muir Torre Syndrome inherited cancer syndrome subtype of HNPCC. cancers of the colon, breast and
genitourinary tract, and skin lesions, such as keratoacanthomas and sebaceous tumours. The genes affected are MLH1 & MSH2, and involved in DNA mismatch repair.