Miscellaneous Disorders
I. Marfan Syndrome
II. Cor Pulmonale
III. Ehlers-Danlos Syndrome
IV. Noonan Syndrome
V. Ebstein’s Anomaly
VI. Turner Syndrome
VII. Fetal Alcohol Syndrome
VIII. Holt-Oram Syndrome
IX. Paget’s Disease
X. Ankylosing Spondylitis
XI. Rubella Syndrome
XII. Pseudoxanthoma Elasticum
XIII. Myotonic Muscular Dystrophy
XIV. Takayasu
XV. Lupus Erythematosus
XVI. Sarcoidosis
XVII. Syphilis
XVIII. Atrial Myxoma
1. Heart and Aorta
Mitral valve prolapse, dilatation of the sinuses of Valsalva, and aortic regurgitation are common findings in Marfan syndrome patients. Dilatation of the aortic root and ascend¬ing aorta leads to aneurysm formation and dissection which accounts for early mortality. The average age of death is in the fourth and fifth decades of life.
2. Eyes
The eyes show a tremulous iris typical of dislocation of the lens (ectopia lentis), myopia, and retinal detachment. Sometimes there is a blue sclera.
3. Skeleton
The skeleton shows joint hypermobility, long extremities and fingers, typical arachnodactyly (spider finger; the thumb protrudes beyond the little finger when the fist is clenched), tall stature, pectus excavatum or pectus carinatum, a high-arched palate, and scoliosis.
- I. MARFAN SYNDROME
Marfan syndrome is an autosomal dominant disorder that occurs in all races and ethnic groups. Marfan syndrome is caused by mutations in the gene that encodes fibrillin-1, the major constituent of microfibrils that forms elastic fibers in tissues of the middle wall of the aorta and arteries. - II. COR PULMONALE
Cor pulmonale describes heart disease secondary to lung diseases (pulmonary heart disease). These conditions cause severe chronic hypoxemia, which increases pulmona artery pressures and right ventricular workload resulting in right heart failure. Hypoxemia is a potent stimulus for vasoconstriction and pulmonary hypertension. Right heart failure is manifested by shortness of breath and easy fatigability at rest or mild activity. Heart failure causes retention of salt and water by the kidneys which leads to swelling of the legs; the legs are brine-logged and not simply waterlogged. - III. EHLERS-DANLOS SYNDROME
Various defects of type III collagen are the cause of the phenotype in all patients with Ehlers-Danlos syndrome. Both skin and joint manifestations are associated with spontaneous rupture of medium and large caliber arteries. The skin is fragile leading to skin abnormalities and the eyes may show a blue coloring of the sclerae, which is also seen with osteogenesis imperfecta. - IV. NOONAN SYNDROME
This it is an autosomal dominant disorder that leads to short stature, cubitus valgus, neck webbing, congenital lymphedema, and congenital heart defects similar to that of Turner syndrome. Both males and females are affected and manifest deformity of the sternum, mental dullness, typical hypertelorism, and drooping of the eyelid (ptosis). Cardiac manifestations include valvular pulmonary stenosis; the valve cusps are thickened and dysplastic and a right-sided flow may be impeded by obstruction because of pulmonary artery hypoplasia. In more than one-third of patients an atrial septal defect occurs often in association with pulmonary valve stenosis. - V. EBSTEIN’S ANOMALY
This disorder is characterized by downward displacement of the tricuspid valve into the right ventricle caused by anomalous attachment of the tricuspid valve leaflets. If the tricuspid valve is severely deformed, heart failure occurs and death may result in utero or soon after birth. With mild deformity individuals may remain symptom-free into adulthood or beyond middle age. Associated malforma¬tions include a patent foramen ovale, an atrial septal defect, and pulmonary stenosis or atresia. An ostium primum atrial septal defect alone or combined with other defects indicates a bad prognosis. This abnormality may be associated with congenital corrected transposition of the great vessels. Adult patients present with shortness of breath and fatigue, palpitations, associated Wolff-Parkinson-White syndrome, cyanosis from a right-to-left shunt, and occasionally paradoxical embolus causing a cerebrovascular accident. Diagnosis is usually made from echocardio-graphic examination. - VI. TURNER SYNDROME
This anomaly is manifested in females who lack an X chromosome (45, X karyotype). Coarctation of the aorta may be seen. A bicuspid aortic valve, aortic stenosis, and dilatation of the ascending aorta with the risk of aortic dissection may occur, even in the absence of a coarctation; thus, endocarditis prophylaxis is necessary. - VII. FETAL ALCOHOL SYNDROME
Children born to alcoholic mothers may be affected with fetal alcohol syndrome. Because of maxillary hypoplasia these individuals have an undeveloped appearing central face along with a small upturned nose (micrognathia) and thin upper lip. Common associated cardiac lesions include atrial and ventricular septal defects. - VIII. HOLT-ORAM SYNDROME
In this autosomal dominant disorder the common cardiac abnormalities are an atrial or ventricular septal defect that is associated with a characteristic fingerized thumb. The thumb resembles a finger that has been displaced into the same plane as the other digits; the thumb may be triphalangeal, hypoplastic, absent, or unusually long. - IX. PAGET’S DISEASE
Paget’s disease of bone characteristically causes a large head size. Cardiovascular lesions include large arteriovenous (AV) fistulas that may cause congestive heart failure. Calcification of the aortic valve may cause a loud murmur produced by aortic sclerosis without stenosis. Calcification of the electrical conduction system may result in a slow heart rate (bradycardia), and occasionally complete heart block that may require an electronic pacemaker. - X. ANKYLOSING SPONDYLITIS
This disease of the skeleton often cause sacroilitis with a painful low back caused by a fused inflexible spine. The patient is hunched over because of an immobile curved spine with forward jutting of the head. The associated cardiac lesion is aortic regurgitation and sometimes atrio-ventricular block. - XI. RUBELLA SYNDROME
A history of maternal rubella is usually obtained. Manifestations include cataracts, nystagmus, and deafness. - XII. PSEUDOXANTHOMA ELASTICUM
In this condition the skin around the armpit (axilla), the antecubital fossa, behind the knee (popliteal fossa), the neck, and other areas becomes lax with character¬istic yellowish papules. Examination of the retina with the ophthalmoscope may reveal angioid streaks. Life-threatening gastrointestinal hemorrhage is common. - XIII. MYOTONIC MUSCULAR DYSTROPHY
In adults diagnostic features of myotonic muscular dystrophy include reflex, percussion, and grip myotonia. This is a characteristic inability to release after exerting a grip on an object. There is also weakness and atrophy of the skeletal muscles, premature baldness, cataracts, and mental retardation. Cardiologic involvement includes arrhythmia, intraventricular conduction defects, and com¬plete heart block that may require electronic pacing. There is fibrosis and fatty infiltration with degeneration of the specialized electrical conduction tissue, particularly the sinus node, AV node, and Purkinje system. - XIV. TAKAYASU
This larger vessel vasculitis of unknown etiology occurs in young individuals in Asia and Mexico. In these areas Takayasu arteritis is one of the most common causes of hypertension in young adults. Women are affected about 10 times more often than men. - XV. LUPUS ERYTHEMATOSUS
This well-known disorder may cause rare cardiac lesions. Pericardial lesions occur in more than 30% of patients, but significant pericarditis is manifested in less than 20%. The initial manifestation of lupus erythematosus (LE) may be pericarditis, but pericardial involvement may occur at any stage of the disease. Cardiac tamponade may be caused by pericardial effusion. - XVI. SARCOIDOSIS
Sarcoidosis is a well-recognized granulomatous disease that causes enlarged lymph nodes (lymphadenopathy) in the hilar region of the lung. In some individuals the disease affects the spongework of the lung (parenchyma) and causes restrictive lung disease (see Section II and the chapter Cardiomyopathy). Sarcoidosis involvement of the lung may be confused with tuberculosis, lymphoma or cancer. - XVII. SYPHILIS
The main cardiovascular lesion caused by syphilis is an aortitis that causes aortic aneurysms, aortic regurgitation, and coronary ostial lesions. Spirochetal infection was once a common cause of aneurysm of the ascending thoracic aorta. These aneurysms cause complications including compression of the recurrent laryngeal nerve which results in hoarseness and pressure on the bronchi causes a brassy cough. - XVIII. ATRIAL MYXOMA
Benign primary cardiac tumors are uncommon and malignant tumors are rare. Metastatic tumors occur more often than primary tumors of the heart, but rarely cause functional disturbances. A left atrial myxoma is the most common cardiac tumor and is usually symptomatic. - BIBLIOGRAPHY
Braunwald, E., Zipes, D. P., and Libby, P. eds. Heart Disease, sixth edition.