A very rare syndrome characterized mainly by heart disease as well as abnormal ovaries.
* Broad nose * Heart disease * Reduced body hair * Delayed puberty * Droopy eyelids
The cause of most cardiomyopathies is unknown. Occasionally, dilated cardiomyopathy results from myocardial destruction by toxic, infectious, or metabolic agents, such as certain viruses, endocrine and electrolyte disorders, and nutritional deficiencies. Other causes include muscle disorders (myasthenia gravis, progressive muscular dystrophy, and myotonic dystrophy), infiltrative disorders (hemochromatosis and amyloidosis), and sarcoidosis. Cardiomyopathy may also be a complication of alcoholism. In such cases, it may improve with abstinence from alcohol but recurs when the patient resumes drinking. How viruses induce cardiomyopathy is unclear, but researchers suspect a link between viral myocarditis and subsequent dilated cardiomyopathy, especially after infection with poliovirus, coxsackievirus B, influenza virus, or human immunodeficiency virus. Metabolic cardiomyopathies are related to endocrine and electrolyte disorders and nutritional deficiencies. Thus, dilated cardiomyopathy may develop in patients with hyperthyroidism, pheochromocytoma, beriberi (thiamine deficiency), or kwashiorkor (protein deficiency). Cardiomyopathy may also result from rheumatic fever, especially among children with myocarditis. Antepartal or postpartal cardiomyopathy may develop during the last trimester or within months after delivery. Its cause is unknown, but it occurs most frequently in multiparous women older than age 30, particularly those with malnutrition or preeclampsia. In these patients, cardiomegaly and heart failure may reverse with treatment, allowing a subsequent normal pregnancy. If cardiomegaly persists despite treatment, the prognosis is poor. Dilated cardiomyopathy occurs in 2 of every 100 people and affects all ages and sexes. It’s most common in adult men.
Therapeutic goals include correcting the underlying causes and improving the heart’s pumping ability with digoxin, diuretics, oxygen, and a sodium-restricted diet. Other options may involve bed rest and steroids. Vasodilators reduce preload and afterload, thereby decreasing congestion and increasing cardiac output. Acute heart failure requires vasodilation with nitroprusside or nitroglycerin I.V. Long-term treatment may include prazosin, hydralazine, isosorbide dinitrate, angiotensin-converting enzyme inhibitors, and anticoagulants. When these treatments fail, therapy may require a heart transplant for carefully selected patients. Cardiomyoplasty, which wraps the latissimus dorsi muscle around the ventricles, assists the ventricle to effectively pump blood. A cardiomyostimulator delivers bursts of electrical impulses during systole to contract the muscle.