Important information concerning the patient with definite or suspected heart disease is often obtained by a careful and deliberate physical examination, which includes a general inspection of the patient, an indirect measurement of the arterial blood pressure in both arms and one or both lower extremities, an examination of central and peripheral arterial pulses, an evaluation of the jugular venous pressure and pulsations, palpation of the precordium, and cardiac auscultation. Based on the results of this rather inexpensive evaluation, a definite diagnosis often is made, and selected noninvasive and invasive testing is ordered only when appropriate.
The art of bedside medicine begins with a careful overall appraisal of the patient. This visual approach is of great advantage in seeking clues to the etiology of cardiovascular disease. Since this discussion is organized according to the specific type of heart involvement, diseases that cause several problems are mentioned more than once. Each disorder is italicized, and its major manifestations are described the first time it is named.
Congenital heart disease syndromes may be classified into heritable disorders, connective tissue disorders, inborn areas of metabolism, chromosomal abnormalities, sporadic disorders, and teratogenic disorders (see also Chaps. 62, 63, 64 and 76). Occasionally, a particular syndrome falls into more than one category. In the first category, the Ellis-van Creveldsyndrome, a common disorder in the Amish population, is a heritable form of dwarfism characterized by short extremities, polydactyly, dysplastic teeth and nails, and multiple frenula binding the upper eyelid to the alveolar ridge (Fig. 10-1). Over half the patients have heart disease, usually a large atrial septal defect or a single atrium.46
The thrombocytopenia-absent radius (TAR) syndrome includes bilateral radial aplasia with a persistent thumb and thrombocytopenia and may be associated with an ostium secundum atrial septal defect (ASD) and/or tetralogy of Fallot. The Holt-Oram syndrome, an autosomal dominant trait, combines an ASD or other congenital heart disease with a thumb47 (Fig. 10-2) that may be absent, hypoplastic, bifid, triphalangeal, or unusually long. Tabatznik's syndrome (heart-hand syndrome type II) is characterized by hypoplastic deltoids, skeletal anomalies of the forearm, bradydactyly, and atrial fibrillation. In the Laurence-Moon-Bardet-Biedl syndrome, mental retardation, polydactyly, obesity, retinitis pigmentosa, and hypogonadism occur with a variety of congenital heart diseases.48
Arteriovenous fistulas involving the lung, liver, and mucous membranes are associated with multiple telangiectasias in patients with the hereditary hemorrhagic telangiectasis (Osler-Weber-Rendu syndrome).49 Cornelia de Lange's syndrome is characterized by bushy, confluent eyebrows, downward-slanting eyes, a small mandible, low-set ears, hirsutism, long eyelashes, a broad, flat, upturned nose, severe growth and mental retardation, and a peculiar "chicken wing" extremity with a single thumblike digit (Fig. 10-3). A ventricular septal defect (VSD), patent ductus arteriosus, pulmonic stenosis, anomalous venous return, or ASD may be present.
There appears to be an increased incidence of congenital heart disease in children with a cleft palate or lip.50 In the Pierre Robin syndrome, the cleft palate is associated with a hypoplastic mandible causing a "shrewlike" face (Fig. 10-4). A cleft palate, micrognathia, low-set ears, and truncus arteriosus may be present in the familial third and fourth pharyngeal pouch syndromes.
Cutis laxis is a generalized disruption of elastic fibers with diminished skin resilience, frequent hernias, and pulmonary artery branch stenosis.51 Patients with the Ehlers-Danlos syndrome (Fig. 10-5A, B) have hyperextensible joints and hyperelastic and friable skin that is often associated with arterial dilatation and rupture, aortic regurgitation, or mitral valve prolapse.52 Patients with osteogenesis imperfecta have brittle bones, blue sclera, and short legs and have an increased incidence of aortic and mitral regurgitation.53 Patients with pseudoxanthoma elasticum (see Chap. 76), who have degeneration of dermal elastic fibers and retinal angioid streaks, can develop aortic regurgitation and CAD (Fig. 10-6).
Marfan's syndrome, an autosomal dominant trait, is suggested by skeletal features such as increased height, long fingers, narrow palms, lax joints, kyphoscoliosis, pectus excavatum or carinatum, an elongated face, high-arched palate, and flat feet54 Fig. 10-7/1-Q. The legs are disproportionately long, resulting in an abnormal ratio of the upper-to-lower segments of at most 0.85. The arm span many exceed the height. When a patient with Marfan's syndrome clenches the hand around a flexed thumb, the thumb protrudes past the ulnar side of the hand. Such a patient also can easily encircle the wrist by grasping it with the fifth finger and thumb of the other hand (see B-hE; Fig. 10-7B). Other signs include bilateral subluxation of the lens, severe myopia, and blue sclera (see B+iBi Fig. 10-7D). Subcutaneous tissue is sparse. Valvular disease is common; patients with Marfan's syndrome usually have mitral valve prolapse (see Chap. 58), minimal to severe mitral regurgitation, a dilated and often calcified mitral annulus, and eventual chordal rupture. Aortic regurgitation is a consequence of a dilated aortic root, prolapse of the aortic cusps, or aortic dissection (see Chap. 76).
Aortic regurgitation also has been described in patients with inborn errors of metabolism including Morquio's syndrome (mucopolysaccharidosis IV) and Scheie's syndrome (mucopolysaccharidosis V).55 Patients with Morquio's syndrome are identified by their short stature, short neck, barrel chest, broad mouth, short nose, widely spaced teeth, and cloudy cornea. In Scheie's syndrome, growth retardation, sternal protrusion, facial abnormalities, and cloudy cornea are present. In Fabry's disease, angiokeratomas identified as purplish pinpoint skin lesions occur on the lips, underarm, buttocks, scrotum, and penis (Fig. 10-8). Cardiomyopathy, ischemic heart disease, and conduction defects beginning in the third decade are associated with this sex-linked recessive disorder, in which there is a genetic deficiency of the enzyme d-galactosidase A.56
Figure 10-8: Fabry's disease: dark-red angiokeratomas on the penis may be linked with coronary artery disease.
Many chromosomal abnormalities have been associated with congenital heart disease. The well-recognized characteristics of Down's syndrome (trisomy 21) include a small head, shallow orbits, epicanthal folds, low-set ears, widely spaced eyes (hypertelorism), Brushfield's white spots of the iris, protruding tongue, transverse palmar creases, and mental retardation (see Chap. 64). Congenital heart disease occurs in 40 to 60 percent of patients; a VSD or endocardial cushion defect is the most frequent.57 Less commonly, tetralogy of Fallot, secundum ASD, patent ductus arteriosus, and other abnormalities are present.58,59
Klinefelter's syndrome is characterized by gynecomastia, small testicles, a eunuchoid appearance, tall stature, and long extremities. Associated ASD's have been described.58
Patients with abnormalities involving chromosomes 1, 9, 11, and 22 often have congenital heart disease.59 The findings with chromosome 1 abnormalities include a peaked nose, micrognathia, and long, tapering fingers. Children with chromosome 9 abnormalities have a prominent forehead, hypertension, anteverted nostrils, a long upper lip, a short neck, mental retardation, and external ear malformations. A child with a chromosome 11 abnormality shares similar features plus retraction of the lower lip. Psychomotor retardation, coloboma, hypertelorism (widely spread eyes), downward slanting of the eyes, and preauricular tags or fistulas are clues to a chromosome 22 defect.
Congenital heart disease, primarily patent ductus arteriosus, has been associated with the 49
XXXXYsyndrome. This unusual disorder should be suspected when a child has psychomotor retardation, hypoplastic genitals, prognathism, clinodactyly (inward curving of the fifth finger), and radioulnar synostoses.
Congenital heart disease of varied types is common in trisomy13 and trisomy 18 syndromes.60 In trisomy13 syndrome, the child has a cleft palate and lip; the ocular tissue and the nose may be missing. Polydactyly in combination with retroflexible thumbs, transverse creases, hyperconvex narrow nails, and flexion of the fingers and hands are characteristic of this syndrome. The features of the trisomy 18 syndrome are a small, triangular mouth with receding chin, small mandible, webbed neck, and tightly clenched fists with the index finger overlapping the third finger and the fifth finger over the fourth (Fig. 10-9).
Low hairline, low-set ears, deafness, small jaw, and short, webbed neck are physical findings common to both Turner's syndrome and the Klippel-Feil syndrome. Turner's syndrome also includes short stature, broad chest with widely spaced nipples, epicanthal folds, widely spaced eyes, pigmented moles, ptosis, clinodactyly, and a shortened fifth finger64 (Fig. 10-10). Coarctation of the aorta, aortic stenosis, and hypertrophic cardiomyopathy are the usual cardiovascular considerations. The Klippel-Feil syndrome may cause facial asymmetry, cleft palate, torticollis, scoliosis, deafness, strabismus, and hydrocephaly. VSD is the most common associated cardiac disorder.62
There are many sporadic disorders associated with congenital heart disease. An imperforate anus may be associated with a cardiovascular malformation.63 This may occur as an isolated finding or as a component of the VATER association,64 the asplenia syndrome,65 the CHARGE syndromd666 (coloboma, heart disease, atresia choanae, retarded growth, genital hypoplasia, ear anomalies), or cat's-eyepupil67 (a fissure of the iris and choroid associated with a cardiac defect). The VATER association includes vertebral defect, tracheoesophageal fistula, and radial and renal dysplasia. A ventricular defect occurs in 80 percent of these patients. The asplenia syndrome is associated with a high incidence of complex congenital heart disease. Cardiovascular malformations are found in 15 to 25 percent of newborns with omphalocele.68
Teratogenic effects resulting in congenital heart disease may be alcohol-induced, the result of rubella during pregnancy, or induced by phenytoin, thalidomide, or lithium.69 From 30 to 40 percent of children born to alcoholic mothers are affected with the fetal alcohol syndrome.22 These children have an undeveloped-appearing central face because of maxillary hypoplasia, a small and upturned nose, an indistinct or smooth philtrum, micrognathia, and a thin upper lip and vermilion (Fig. 10-11). ASDs and VSDs are most common, but many other cardiac defects also can be found. The teratogenic effects of the rubella syndrome include cataracts, deafness, and microcephaly. The most frequent congenital cardiac disorders are patent ductus arteriosus, pulmonic valvular and/or arterial stenosis, and ASD.H
Important clues to the diagnosis of underlying congenital heart disease may be obtained from careful observation of the thorax and extremities. Bilateral prominence of the anterior chest with bulging of the upper two-thirds of the sternum is commonly present in children with a large VSD. A unilateral bulge at the fourth and fifth intercostal spaces at the lower left sternal border often is found in adults with VSDs. A bulge in the area of the second and third intercostal spaces at the left sternal border may result from an underlying ASD. Scoliosis is commonly present in cyanotic congenital heart disease. Underdeveloped musculature of the lower extremities compared with the upper extremities occurs with coarctation of the aorta. Clubbing of the digits and cyanosis of the skin or nails suggest congenital heart disease with right-to-left shunting of blood (Fig. 10-12, Plate 29).
Differential cyanosis often provides a clue to exact pathologic anatomy.72 Cyanosis and clubbing of the toes associated with pink fingernails of the right hand and minimal cyanosis and clubbing of the left hand are due to pulmonary hypertension with normally related great vessels and a reversed shunt, with the patent ductus arteriosus bringing unoxygenated blood to the left arm and lower extremities (B-H0i Fig. 10-13, Plate 30). The same pattern results from interruption of the aortic arch and a patent ductus arteriosus delivering desaturated blood to the legs. If the right subclavian artery arises proximal to the aortic obstruction, the right hand may be pink and the left hand cyanotic. When an anomalous right subclavian artery originates from the descending aorta, however, both hands are cyanotic. Cyanosis of the fingers greater than that in the toes suggests complete transposition of the great vessels with preductal coarctation or complete interruption of the aortic arch, pulmonary hypertension, and a reverse shunt through a patent ductus arteriosus delivering oxygenated blood to the lower extremities (Fig. 10-14, Plate 31). In this anomaly, the presence of aortic coarctation can be distinguished from complete interruption of the aortic arch. Slightly less cyanosis of the left arm when compared with the right arm favors aortic coarctation, whereas intense symmetric cyanosis of both arms is seen with complete aortic interruption. Red fingertips ("tuft erythema") may signify a small, intermittent right-to-left shunt with only slight reduction in arterial oxygen saturation (Fig. 10-15, Plate 32).
Figure 10-15: (Plate 32) Tuft erythema. Erythema of fingertips due to small right-to-left shunt from AV canal defect.
Anotia (congenital absence of the pinna) and facial paralysis may be signs of an underlying VSD and pulmonic stenosis.73 The presence of any congenital somatic abnormality always should prompt a search for congenital heart disease. Extracardiac anomalies were found in 25 percent of infants seen during the first year for significant cardiac disease in one study.74 The defects were commonly found in the musculoskeletal system and were associated with specific syndromes.
The cutaneous lesions of infective endocarditis (see Chap. 73) include Osler's nodes, Janeway lesions, clubbing of the fingers (B+;0; Fig. 10-16, Plate 33), splinter hemorrhages of the nails, and petechiae.7576 Osler's nodes are reddish purple, tender nodules typically found in the distal pad of the finger or toe Fig. 10-17, Plate 34). By contrast, Janeway lesions are hemorrhagic but nontender and involve the palms or soles. Splinter hemorrhages are linear and black and affect the distal third of the fingernail. They are also present in many unrelated diseases and may result from trauma in otherwise healthy people.
Certain features suggest primary valvular heart disease (see Chaps. 56, 57, and 59). Pulmonic stenosis may be part of Noonan's syndrome, Turner's syndrome (previously discussed), Rubinstein-Taybi syndrome, rubella syndrome (see above), the multiple-lentigines syndrome, pulmonary valve dysplasia, or Watson's syndrome. In Noonan's syndrome,777 the characteristic findings include ptosis, low-set ears, downward-slanting eyes, webbed neck, hypertelorism, low posterior hairline, short stature, mental retardation, and normal chromosomes (Fig. 10-18). Broad toes and thumbs, a slanting forehead, a thin, beaked nose, and large, low-set ears are seen in Rubinstein-Taybi syndrome78 (Fig. 10-19). Café-au-lait spots and mental retardation are linked to pulmonic valve stenosis in Watson's syndrome.
The multiple-lentigines syndrome is identified by the presence of multiple tan to brown macules varying in size from pinpoint to 5 cm in diameter (Fig. 10-20). These cutaneous lesions may affect the entire body but are most heavily concentrated on the neck and upper thorax. Other findings in this syndrome include hearing loss, short stature, hypertelorism, ptosis, prognathism, pectus excavatum or carinatum, kyphoscoliosis, cafe-au-lait spots, and other skeletal defects.79
The carcinoid syndrome (see Chap. 77) may present as intense flushing of the face; a chronic cyanotic hue and telangiectasia may be present. Stenosis and/or regurgitation of the tricuspid and/or pulmonic valves often results when hepatic metastases are present.80 When a patent ductus arteriosus, lung metastases, or a patent foramen ovale is present, the left-sided heart valves can be affected.
In progressive systemic sclerosis (scleroderma), tightening of the skin on the fingers and then the hands, forearms, upper chest, and face is associated with hair loss and disappearance of subcutaneous tissue and skin creases (Fig. 10-21). Flexion contractures on the fingers may cause a clawlike hand deformity. Raynaud's phenomenon is an early manifestation. The CREST syndrome (calcinosis, Raynaud's esophageal involvement, sclerodactyly, and telangiectasia) is a variant of scleroderma (Fig. 10-22). Although valvular changes include thickening of the edges of the mitral, aortic, and tricuspid valves, as well as thickening and shortening of the mitral chordae, the resulting valve disease is rarely significant.84
Figure 10-22: CREST syndrome. Telangiectasia of the face in a patient with Raynaud's phenomenon and sclerodactyly.
Joint disease associated with cardiac valvular disease is frequent with systemic lupus erythematosus, rheumatoid arthritis, rheumatic fever, polychondritis, ankylosing spondylitis, alkaptonuria, and Whipple's disease. In systemic lupus erythematosus, the joint inflammation is usually symmetric and nondeforming. Typical skin lesions include an erythematous, scaling eruption over the cheeks and bridge of the nose, circumscribed reddish purple plaques, telangiectasia, and patchy hair loss (Fig. 10-23). Verrucous endocarditis may involve any of the four cardiac valves; however, severe valvular dysfunction is unusual.82,83 Sessile, small, nonbacterial vegetations and valvular thickening causing regurgitation rather than stenosis may be more common in patients with antiphospholipid antibodies84 (see Chap. 76).
In patients with rheumatoid arthritis, the metacarpophalangeal joints, proximal interphalangeal joints, wrists, metatarsophalangeal joints, shoulders, knees, ankles, and elbows are involved with inflammation and subsequent destruction. Advanced disease results in ulnar deviation of the fingers and flexion of the distal interphalangeal joints with hyperextension of the proximal interphalangeal joints, producing a "swan neck" deformity and a Z-shaped configuration of the thumb (Fig. 10-24, Plate 35). Subluxation of the metacarpophalangeal joints with interosseal muscle wasting and thickening of the wrists are common. Granulomatous aortic or mitral valve disease with regurgitation is most common in patients who are seropositive and have subcutaneous nodules or classic rheumatoid deformities.85 Rheumatic fever, often with cardiac involvement, should be suspected in patients with erythema marginatum, urticaria, and migratory polyarthritis involving the large joints (see Chap. 55). Subcutaneous nodules are found less frequently. Marked ulnar deviation at the metacarpophalangeal joints, suggesting rheumatoid arthritis, can be due to repeated attacks of rheumatic fever and is known as Jaccoud's or post-rheumatic fever arthritis. In contrast to rheumatoid arthritis, the fingers can be moved freely into a correct alignment, and x-rays of the hands are normal. It also occurs in systemic lupus erythematosus (SLE).
Figure 10-24: (Plate 35) Rheumatoid arthritis: with ulnar deviation of the fingers, flexion of the distal interphalangeal joints with hyperextension of the proximal interphalangeal joints.
Polychondritis causes an inflammatory destruction of the cartilage of the face, resulting in a saddle-shaped collapse of the nose or a cauliflower ear. Aortic regurgitation, aortic aneurysm, and rarely aortic root dissection are associated86 (Fig. 10-25).
Chronic synovitis involving the fibrocartilaginous joints of the spine occurs in patients with ankylosing spondylitis. The disease may be confined to a sacroiliac area or spread slowly upward. The patient with advanced disease is bent forward, is unable to stand upright, and must walk with a stiff and halting gait (Fig. 10-26). Aortic regurgitation due to thickening and shortening of the aortic cusps from perivascular inflammation and fibrosis occurs in up to 10 percent of patients.87 Mitral regurgitation and complete heart block also may occur. Cogan's syndrome, consisting of ophthalmic inflammation and audiovestibular symptoms, is another cause of vasculitis involving the aortic root and leading to aortic regurgitation and coronary disease.88
Figure 10-26: Ankylosing spondylitis: immobile, curved spine with forward jutting of head. May be seen with AV block or aortic regurgitation. (From Silverman ME. Visual clues to diagnosis. Primary Cardiology, June 1987. Reproduced with permission from the publisher, author, and patient.)
Whipple's disease is suggested by the combination of polyarthritis, abdominal pain, and diarrhea. Aortic and mitral regurgitation and endocarditis are known complications.89 Aortic or mitral valvular disease also may be due to an accumulation of homogentisic acid in alkaptonuria. Blue-black, stiff pinnae and joints are important clues to this inherited disorder of tyrosine metabolism.
External signs of mitral valve prolapse (see Chap. 58) include a straight thoracic spine, pectus excavatum, scoliosis, hypomastia, joint laxity, and various neuromuscular disorders. Systolic and rarely diastolic murmurs have been described with chest wall deformities due to straight-back syndrome and pectus excavatum (Fig. 10-27, Plate 36) that may impinge on or displace the heart.
Figure 10-27: (Plate 36) Marked pectus excavatum. Disorders Associated with Cardiomyopathy
Hypertrophic cardiomyopathy (see Chap. 67) has been associated with Friedreich's ataxia, Turner's syndrome, Noonan's syndrome, Fabry's disease, neurofibromatosis, and the multiple-lentigines syndrome. Friedreich's ataxia is a spinocerebellar degenerative disorder that results in a broad-based, lurching gait, impaired vibration, position, and joint sense, and incoordination. Kyphoscoliosis and pes cavus (high instep, retraction of the toes at the metatarsophalangeal joints, and hammer toes) are two important physical signs (Fig. 10-28). Concentric and asymmetric LV hypertrophy that may evolve into a dilated cardiomyopathy have each been described."
Myocardial hypertrophy may be secondary to extreme obesity or acromegaly. With acromegaly, the broad forehead, thickened skin, and enlarged nose, lip, and tongue produce coarsened facial features (Fig. 10-29), whereas elongation of the mandible leads to prognathism and overbite. The large, sausage-shaped fingers and spadelike configuration of the hands are typical.94
Cor pulmonale and RV hypertrophy may be secondary to pulmonary hypertension caused by kyphoscoliosis, restrictive lung disease, progressive systemic sclerosis, upper airway blockade by enlarged tonsils426 and adenoids, or the sleep apnea syndrome associated with extreme obesity.92,93
Myocarditis (see Chap. 69) occurs with SLE, rheumatic fever, Reiter's syndrome,94 Kawasaki's disease,95 Lyme arthritis,96 and occasionally, Whipple's disease. Reiter's syndrome is characterized by conjunctivitis and hyperkeratotic coalescing lesions encrusted on the soles and palms, associated with arthritis and urethritis (Fig. 10-30, Plate 37). Kawasaki's disease begins with fever, nonexudative conjunctivitis, dry, fissured lips, cervical adenopathy, and a strawberry tongue. Later, the palms and soles become indurated and purplish red and then peel. A widespread erythematous rash may appear and then desquamate. Lyme arthritis, caused by the spirochete Borrelia burgdorferi, begins with a red macule or papule and then develops into an expanding erythematous rash with a bright red border known as erythema migrans (Fig. 10-31). The center of the rash may clear, indurate, blister, or become necrotic. Multiple annular lesions may develop.
Diseases that cause myocardial fibrosis include dermatomyositis, Duchenne's and Becker's muscular dystrophy, myotonic muscular dystrophy, Kearns-Sayres syndrome, Friedreich's ataxia, sarcoidosis, and progressive systemic sclerosis (see Chaps. 62 and 76). With dermatomyositis, an erythematous eruption and periorbital heliotropic discoloration affects the face (Fig. 10-32, Plate
38), and a scaly, erythematous rash may cover the knuckles, sparing the interphalangeal region.97 A waddling gait and pseudohypertrophic calves are characteristic of Duchenne's muscular dystrophy. The ECG is commonly consistent with fibrosis of the posterior left ventricle.98 In myotonic dystrophy, drooping eyelids, cataracts, a receding hairline, and a masklike expression are present.99 The Kearns-Sayre syndrome is a form of ocular muscular dystrophy in which external ophthalmoplegia, ptosis, and retinitis pigmentosa occur.i°° The skin manifestations of sarcoidosis include erythema nodosum, lupus pernio (a red or violet plaque with a predilection for the nose, cheeks, eyelids, and ears), and waxy translucent papules found on the cheeks, periorbital area, ears, nasolabial folds, and elsewhere.i°i Uveitis, bilateral parotid and lacrymal gland enlargement, and arthritis are other signs (see Chap. 68).
Figure 10-32: (Plate 38) Dermatomyositis. A violaceous hue and edema of upper eyelid may be associated with myocardial disease.
Isolatednoncompaction ofthe LV myocardium is characterized by numerous, prominent ventricular trabeculations, deep intertrabecular recesses, arrhythmias, and a distinctive facial dysmorphism.
Infiltrative diseases of the myocardium include Wilson's disease, Cori's disease, Fabry's disease, hemochromatosis, amyloidosis, glycogen storage disease, and sarcoidosis (see Chap. 68). Wilson's disease is an autosomal recessive disorder in which copper accumulates in tissues, including the myocardium.!02 Arrhythmias, autonomic dysfunction, and cardiomyopathy have been reported. Kayser-Fleischer rings, usually golden-brown in color and circling the edge of the cornea, provide a major clue to the correct diagnosis.
Cori's disease (type III glycogenosis) is suspected when a patient has xanthomas and a yellowish skin. In hemochromatosis, the skin has a bronze or slate-gray coloration; myocardial infiltration with iron deposits often causes a dilated or rarely a restrictive cardiomyopathy associated with arrhythmias and heart failure.103 Macroglossia and waxy nodules of the skin and eyelids, which may hemorrhage when pinched, are clues to the diagnosis of amyloidosis(Fig. 10-33) (see Chap. 68). Glycogen storage disease and myxedema also can enlarge the tongue.
Disorders Associated with Pericardial Disease
Pericarditis may be a result of Reiter's syndrome, Whipple's disease, Kawasaki's disease, SLE, rheumatoid arthritis,!05 rheumatic fever, sarcoidosis, scleroderma, dermatomyositis, hemochromatosis, Behget's disease, Degos' disease, uremia, mulibrey nanism, polychondritis, hypothyroidism, or metastatic disease among others (see Chap. 72). The components of Behget's disease include erythema nodosum, superficial phlebitis, oral and genital ulcers, and iritis.!06 Patients with Degos' disease (malignant atrophic papulosis) present with painless, oval cutaneous lesions that have a white center and surrounding erythema. In this rapidly fatal disease, occlusive fibrosis of small and medium-sized arteries produces pleuritis and pericarditis. In far-advanced renal disease, urochrome pigmentation of the skin and uremic frost are cutaneous manifestations. The term mulibrey nanism describes a syndrome involving muscle, liver, brain, and eyes.107 These patients have a triangular face, bulging forehead, low nasal bridge, growth retardation, pigmentary changes in the fundus, hemangiomas, and constrictive pericarditis. Hypothyroidism, a cause of often massive pericardial effusions, thickens the face and causes dry hair, puffy eyelids, and an enlarged tongue.
Acquired causes of atrioventricular (AV) block or bundle-branch block include sarcoidosis,!0! rheumatic fever, gout, Reiter's syndrome,108 dermatomyositis, amyloidosis, Kawasaki's disease,95 ankylosing spondylitis,109 SLE,83 and Lyme arthritis.96 In gout, uric acid crystals may form nodules affecting the conduction system. AV block may be an early cardiac manifestation of ankylosing spondylitis.
Inherited or congenital disorders associated with conduction defects include SLE, Fabry's disease,
Friedreich's ataxia, Kearns-Sayre syndrome, multiple-lentigines syndrome, muscular dystrophy, myotonic dystrophy, tuberous sclerosis, and Refsum's disease. Maternal lupus is an important cause of congenital complete AV block in the newborn.82 In Refsum's disease, a lipidosis and genetically determined neuropathy characterized by high levels of phytanic acid, cerebellar ataxia, night blindness, deafness, ichthyosis, cataracts, and polyneuropathy have been associated with myocardial disease and conduction abnormalities.
Syndactyly (webbing of the hands or feet) has been found with a long QT interval-a syndrome with a high risk of sudden death.110
Aortic aneurysms and dissection (see Chap. 88) are frequent cardiovascular complications of Marfan's and Ehlers-Danlos syndromes. Aneurysms of other vessels and arterial rupture also may occur. A progressive looseness of skin producing pendulous folds and droopy eyelids can be due to cutis laxa, a generalized destruction of elastic tissue that can cause dilatation of the aorta or pulmonary artery and aortic rupture.51
Coronary artery stenosis from atherosclerosis can be associated with hyperlipidemia,111 cerebrotendinous xanthomatoses, Werner's syndrome, uremia, progeria, acromegaly, and diabetes mellitus. Hyperlipidemia may be suspected when xanthomas or arcus senilis are present. Xanthelasma usually involve the upper eyelid. When they occur before age 50, there is a strong association with familial hypercholesterolemia and premature CAD. Eruptive xanthomata are recognized as papules with yellow centers surrounded by an erythematous halo. They often appear with a sudden outbreak of discrete 1- to 4-cm lesions on the buttocks, back, thighs, and exterior surfaces of the knees and elbows. They indicate a very high level of triglycerides and are associated with hyperlipidemia, diabetes mellitus, pancreatitis, myxedema, and the nephrotic syndrome. Tendon xanthomata are firm, painless nodules that thicken the exterior tendons of the hand, the Achilles tendons, and sometimes the tendons of the knees and elbows (Fig. 10-34). Cerebrotendinous xanthomatosis is a rare disorder in which tendon xanthomata, cataracts, dementia, ataxia, neuropathy, and accelerated atherosclerosis are present. Tuberous xanthomata are yellow to deep-orange papules erupting over the elbows, knees, buttocks, and heels. They may coalesce or be pedunculated and are a manifestation of hyperlipidemia, myxedema, and liver disease. Large, orange, lobulated tonsils are a finding in Tangier disease, in which there is deficiency of high-density lipoprotein.
Figure 10-34: Hyperlipidemia: xanthomata associated with coronary artery disease. A. On the extensor tendons of the hand. B. On the Achilles tendon (arrow).
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