The most senior member of the obstetric team should be summoned. This is to ensure that obs tetric causes of the collapse are considered (e.g. amniotic \202 uid embolism, massive po st-partum hemorrhage) and appropriately treated. In addition, emergency cesarean section ma y be required to aid maternal resuscitation. Endocarditis prophylaxis \200 Current UK recommendations from the National Institute for Health and Clinical Excellence (NICE) 2008 are that antibiotic prophylaxis against infectiv e endocarditis (IE) is not required for childbirth. The British Society for Antimicrobial Chemotherapy (BSAC) 2006, and the American Heart Asso ciation (AHA) have recommended cover only for patients deemed to be at high risk of develop ing IE (such as women with previous IE) and for those who have the poorest outcome if they develop IE (such as those with cyanotic congenital heart disease). \200 Fatal cases of en docarditis in pregnancy have occurred antenatally, rather than as a consequence of infectio n acquired at the time of delivery. If antibiotic prophylaxis is used for delivery it shoul d be: \200 amoxicillin 2 g IV plus gentamicin 1.5 mg/kg IV at the onset of labor or ruptu red membranes, or prior to cesarean section, followed by amoxicillin 500 mg orally (or IM/I V depending on the patient \200\231s condition) 6 hours later for women who are allergic to penicillin, vancomycin 1 g IV or teicoplanin 400 mg IV may be used instead of amoxicillin. 697 Chapter 16 Eponymous syndromes Syndromes are listed in alphabetical order 698 \200\223708 698 CHAPTER 16 Eponymous syndromes A \200\223C Aase syndrome A clinical triad of congenital anemia, triphalangeal thumbs, and VSD. The etiology is unknown. Adams \200\223Stokes syncope See Stokes \200\223Adams syndrome (b p. 706). Al \201 di \200\231s syndrome Hypertension resulting from occlusion of the coeliac axis, l eading to diversion of collateral blood \202 ow from the right renal artery. Originally d escribed as renal-splanchnic steal syndrome. 1 Andersen syndrome A triad of periodic paralysis, ventricular tachy- arrythmias, and dysmorp hic features (hypertelorism, micrognathia, low-set ears, and high arched or cleft palate, s hort stature, scoliosis, syndactyly, and clinodactyly). The periodic paralysis can be assoc iated with hyper-, hypo-, or normokalaemia. It is an autosomal dominant condition associate d with mutations in the KCNJ2 gene encoding the inward-rectifying K + channel Kir2.1. 2 Anderson \200\223Fabry disease A rare X-linked recessive lysosomal storage disorder involvi ng a de \201 ciency of the enzyme alpha galactosidase There is a resulting in accumulation of globotriasylceramide throughout the body. Cardiac manifestations include left and right ventricular hypertrophy and heart failure. Other systemic features include renal impairmen t, angiokeratomas, neuropathy, and corneal keratopathy. Treatment is now available in the f orm of enzyme-replacement therapy. Barlow \200\231s syndrome A familial form of mitral valve prolapse which is sometimes inher ited as an autosomal dominant trait. It is a genetically heterogenous syndrome, characteriz ed by \200\230billowing \200\231 of one or both of the mitral valve lea \202 ets into the left atrium during systole. On auscultation there is a midsystolic click and a late or pan systolic murmur. 20 % are asymptomatic. Females are twice as commonly affected. 3 Barth syndrome An X-linked mutation of the TAZ gene, leading to dilated cardiomyopathy, ske letal myopathy, short stature and neutropenia. 3-methylglutaconic acid excretion in the uri ne has been observed in almost all reported cases. Beemer lethal malformation syndrome A lethal syndrome of double outlet right ventricle, hyd rocephalus, dense bones, thrombocytopenia, and abnormal nasal development. 1 Al \201 di RJ, Filson EJ, Frohlich ED, Gifford RW Jr, Meaney TF (1967). Renal-splanchnic steal. Report of a case. Cleveland Clin Q 34: 43 \200\22354. 2 Donaldson MR, Jensen JL, Tr istani-Firouzi, M, et al. (2003). PIP2 binding residues of Kir2.1 are common targets of mut ations causing Andersen syndrome. Neurology 60(11): 1811 \200\22316. 3 Barlow J, Marchand B P, Pocock WA, Denny D (1963). The signi \201 cance of late systolic murmurs. Am Heart J 66 : 443. A \200\223C 699 Bland \200\223Garland \200\223White syndrome (or ALCAPA) A congenital condition featuring a nomalous origin of the left coronary artery arising from the pulmonary artery (ALCAPA) resu lting in myocardial ischaemia. Affected infants typically present with congestive heart fai lure within the \201 rst 1 \200\2232 months of life. De \201 nitive treatment involves s urgical re-implantation of the left coronary artery or bypass grafting. 1 Bouillaud \200\231s syndrome An eponym for rheumatic fever. Bouillaud was the \201 rst to emphasize the importance of cardiac involvement in the acute articular phase of rheumatic fever. 2 Bourneville \200\223Pringle disease Hamartomas of the heart and kidney associated with epil epsy, learning dif \201 culties, cerebral cortical hamartomas (tuberose sclerosis), and ad enoma sebaceum. It is inherited in an autosomal dominant manner. Renal cysts or carcinomas may occur. 3 Bradbury \200\223Egglseton syndrome An idiopathic disorder of autonomic failure characteriz ed by orthostatic hypotension, with more widespread manifestations of thermoregulatory, bow el, bladder, and sexual function disturbance. Brugada \200\231s syndrome One of the principal causes of sudden cardiac death in young adu lts in the absence of structural heart disease, secondary to mutation of the SCN5A gene on chromosome 3, inherited in an autosomal dominant fashion. This results in malfunction of a sodium channel leading to initiation and perpetuation of ventricular arrhythmias. Clinicall y there is right bundle branch block, ST elevation in V 1 to V 3 , and sudden death/syncope . The clinical phenotype may be unmasked by the administration of ajmaline (not available i n the UK) or procainamide. The only effective treatment is with an implantable cardiac de \201 brillator. 4 Carney syndrome Also known as the Carney complex. There is association of atrial myxomas wi th myxomas in other locations, e.g. breast or skin, spotty pigmentation, and endocrine over activity, e.g. pituitary or testicular tumors. The inheritance is autosomal dominant, the m utation being in the PRKAR1A gene on chromosome 17. It tends to affect individuals in their third decade. They are more likely to have bilateral myxomas and develop recurrences of th e myxoma after removal, in contrast to sporadic cases. 1 Bland EF (1933). Congenital anomalies of the coronary arteries: report of an unusual case associ- ated with cardiac hypertrophy. Am Heart J 8 : 787 \200\223801. 2 Bouillaud B (1832 ). Trait clinique du rheumatisme articulaire. Paris. 3 Bourneville DM (1880). Scl rose t ub reuse des circonvolution c r brales: Idiotie et pilepsie hemipl gique. Archives de neurologie Paris 1 : 81 \200\22391. 4 Brugada P, Brugada J (1992). Right bundle branch blo ck, persistent ST segment elevation and sudden cardiac death: a distinct clinical and elect rocardiographic syndrome. A multicenter report. J Am Coll Cardiol 20 (6): 1391 \200\2236. 700 CHAPTER 16 Eponymous syndromes D \200\223M DiGeorge syndrome A disorder resulting from deletion of the TBX1 gene on chromo some 22q11.2, leading to parathyroid hypoplasia (and hypocalcaemia), thymic hypoplasia (and low T-cell counts), and out \202 ow tract defects of the heart, including tetralogy of Fa llot, truncus ateriosus, interrupted aortic arch, right-sided aortic arch, and aberrant rig ht subclavian artery. Affected individuals typically have micrognathia, low-set ears, short philtrum, and small mouth. The Shprintzen syndrome is also caused by a disorder in the sam e gene. Dressler syndrome A myocardial infarction-associated pericarditis, usually occurring one we ek after the onset of infarction, but may occur several months afterwards. An autoimmune et iology is suspected due to the delay in development of the syndrome, the presence of antibo dies against the heart, evidence of altered lymphocyte subsets and complement activation, f requent recurrences, associated pleuritis and pleural effusions, and response to non-sterio dal drugs and steroids. There may be a pericardial rub, fever, pericardial and pleural effu sions, with PR abnormalities, as well as ST- and T-wave changes suggestive of pericarditis. Duchenne muscular dystrophy An X-linked disorder of the dystrophin gene. There is severe sk eletal muscle weakness, which may mask dilated cardiomyopathy. There is a tendency for \201 brosis to affect the posterolateral and posterobasal left ventricular wall. Supraventr icular arrhythmias are more common than ventricular arrhythmias and heart block, which occu r as the \201 brosis becomes more widespread. Ebstein \200\231s anomaly A malformation in which there is an abnormal attachment of the tr icuspid valve lea \202 ets leading to a downward displacement of the tricuspid valve. A po rtion of the right ventricle therefore lies between the atrioventricular (AV) ring and the origin of the valve, so that the proximal part of the right ventricle is \200\230atrialize d \200\231, and a small right ventricular chamber exists. Tricuspid valve tissue is dysplas tic. There is spectrum of severity in this condition, and it is associated with pulmonary s tenosis or atresia, as well as VSD and ostium primum atrial septal defect (ASD). Eisenmenger syndrome Any systemic-to-pulmonary circulation shunt that eventually leads to r eversal or bidirectional \202 ow of the shunt, with subsequent pulmonary hypertension and cyanosis. It was \201 rst described in a 32-year-old man with a ventricular septal defec t in 1897. 1 Ellis \200\223Van Creveld syndrome An autosomal recessive condition characterized by short stature caused by metaphyseal dysplasia, poly- dactyly, dysplastic nails and teeth, and, mo st commonly, primum ASD. Coarctation of the aorta, hypoplastic left heart, and patent ductu s arteriosus (PDA) occur in 20 % of cases. 1 Eisenmenger, V (1897). Die angeborenen Defekte der Kammerscheidew nde des Herzens . Zeit schrift f r klinische Medizin 32(suppl): 1 \200\22328. D \200\223M 701 Emery \200\223Dreifuss muscular dystrophy A clinical triad of early contractures of the elb ow, Achilles tendon, and posterior cervical muscles, progressive skeletal myopathy, and car diac manifestations. These include sinus bradycardia, atrial \201 brillation and atrial \202 utter initially, progressing to higher levels of AV block, sustained ventricular tach ycardia and ventricular \201 brillation. Heart failure may also be present. Sudden death before the age of 50 years is common. It is X-linked in its transmission, with the gene res ponsible encoding a nuclear membrane protein called emerin. 1 Fabry disease See Anderson \200\223Fabry disease (b p.438, p.698). Fallot \200\231s tetralogy The association of pulmonary stenosis, ventricular septal defect , over-riding aorta, and right ventricular hypertrophy, causing cyanosis in the newborn. Th is forms 10 % of all congential heart disease, and is slightly more common in males. Fallot \200\231s trilogy comprises pulmonary stenosis, strial septal defect, and intact ventricul ar septum, Fallot \200\231s pentalogy is the addition of an atrial septum defect or patent foramen ovale to the tetralogy. 2 Friedreich \200\231s ataxia spinocerebellar degenerative disease characterized by limb and trunk ataxia, skeletal deformities, dysarthria, and cardiomyopathy. Concentric left ventric ular hypertrophy frequently occurs, as well as asymmetrical septal hypertrophy. Rarer is di lated cardio- myopathy. There may be associated atrial arrhythmias. The condition is inheri ted in an autosomal dominant manner, with the mutation identi \201 ed as an ampli \201 ed , unstable GAA trinucleotide repeat found in the \201 rst intron of the frataxin gene on chromosome 9q13. A Friedreich \200\231s disease Sudden collapse of the cervical veins that were previously dis tended at each diastole, caused by an adherent pericardium. Also known as mediastinopericar ditis adhesiva, or Friedreich \200\231s sign. Holt \200\223Oram syndrome An autosomal dominant condition, sometimes known as heart \200 \223hand syndrome, in which there is dysplasia of the upper limbs associated most commonly with secundum ASD, but also with VSD, mitral valve prolapse, and PDA. The arm deformities m ay be subtle, from having distally placed or triphalangeal thumbs, to more severe forms inc luding hypolplastic clavicles and phocomelia. 1 Muntoni F (2003). Cardiomyopathy in muscular dystrophies. Curr Opin Neurol 16 (5): 577 \200\22383. 2 Fallot ELA (1888). Contribution l \200\231Anatomie Pathologique de la Mala die Bleue (Cyanose Cardiaque). Marseille: Marseille M dical. 702 CHAPTER 16 Eponymous syndromes Heyde \200\231s syndrome The association of gastrointestinal bleeding and calci \201 c aor tic stenosis. Since Heyde \200\231s original description in 1958, the bleeding has been sho wn to be due to an acquired von Willebrands disease type 2a caused by high shear stress aro und the aortic valve, leading to hemorrhage from arteriovenous malformations in the gut. Th e bleeding abnormality ceases after replacement of the valve. 1 , 2 Hurler \200\231s syndrome An autosomal recessive mucopolysaccharide storage disorder result ing from de \201 ciency of the lysosomal enzyme alpha-L-iduronate. It is also designated m ucopolysaccharidosis type IH (MPSIH). Clinical features include coarse facial characteristi cs, corneal clouding, hepatosplenomegaly, thickened skin, mental retardation, and cardiac p roblems. These consist of restrictive cardiomyopathy due to endomyocardial \201 broelasto sis, coronary artery stenosis, and valvular thickening (left side more than right side) and regurgitation. Most die in the \201 rst decade. Hunter \200\231s syndrome is MPS II, and pursues a slower course. Scheie syndrome is MPS IS, and has the most benign course of the mucopolysaccharidoses. 3 Jervell \200\223Lange \200\223Nielsen syndrome An autosomal recessive condition associated with deafness caused by mutation in the KVLQT1 gene, or the KCNE1 gene, both encoding compo nents of the delayed recti \201 er potas- sium channel involved in the action potential. A s a result, the QT interval is prolonged and affected individuals have a variable risk of d eveloping torsade de pointes and sudden cardiac death (SCD). Kartagener \200\231s syndrome A clinical triad of situs inversus, abnormal frontal sinuses, and immotile cilia. The patient has recurrent respiratory infections, sinusitis, bronchiec tasis, and infertility. Some may have anosmia, or low levels of immunoglobulin A (IgA). Inh eritance is autosomal recessive. The defect lies in the genes encoding the dynein protein t hat contributes to the structure of cilia. Also known as the Siewert syndrome. 4 Kawasaki disease An acute vasculitis that affects children, which manifests with fever, cer vical lymphadenopathy, bilateral conjunctivitis, erythema or desquamation of the palms and soles, and coronary artery aneurysms or ectasia. These may lead to myocardial infarction an d sudden death. The etiology is unknown. 5 1 Heyde EC (1958). Gastrointestinal bleeding in aortic stenosis. N Engl J Med 259 : 196. 2 Batur P (2000). Increased prevalence of aortic stenosis in patients with arteriovenous malf ormations of the gastrointestinal tract in Heyde Syndrome. Arch Intern Med 163 : 1821 \200 \2234. 3 Hurler G (1919). \234ber einen Typ multipler Abartungen, vorwiegend am Skelettsys tem . Zeitschrift f r Kinderheilkunde, Berlin 24: 220 \200\223234. 4 Kartagener M (1933). Zur Pathogenese der Bronchiektasien: Bronchiektasien bei Situs viscerum inversus. Beitr ge zum Klinik der Tuberkulose 83 : 489 \200\223501. 5 Kawasaki T (1967). Acute febrile mucocu taneous syndrome with mucoid involvement with speci \201 c desquamation of the \201 nger s and toes in children. Jpn J Allergy 116 : 178. D \200\223M 703 Kearns \200\223Sayre syndrome A clinical triad of AV block, pigmentary retinopathy, and pro gressive external ophthalmoplegia. It is caused by the deletion of several mitochondrial ge nes. In most cases it occurs sporadically and is not inheritable. 1 Leber hereditary optic neuropathy A mitochondrial encephalomy- opathy characterized by pain less loss of vision in a young man. There may be an associated short PR interval and pre-ex citation. 2 Lenegre \200\223Lev disease Also known as progressive familial heart block type I (PFHBI). An autosomal dominant disorder mapped to chromosome 19, de \201 ned by evidence of bundle branch block with wide QRS complexes that may progress to complete heart block. This is dis tinct from progressive familial heart block type II (PFHBII), which has narrow QRS complexe s. There is an accelerated degenerative process that primarily affects the conduction tissu e. L f \202 er \200\231s syndrome A rare form of endocarditis associated with high levels of circulating eosinophils. The underlying cause may be helminthic infection or leukemia, b ut in most it is unknown. Typically, the lungs are involved with diffuse reticular nodular shadowing on the chest X-ray. The acute form is characterized by an eosinophilic vasculitis that leads to dilated cardiac chambers, whereas the chronic form leads to \201 brosis of myocardium leading to a clinical syndrome of restrictive cardiomyopathy, resulting in redu ced effort tolerance, wheezing, hepatomegaly, heart block, mitral and tricuspid regurgitati on, and systemic embolization. Lown \200\223Ganong \200\223Levine syndrome A ventricular pre-excitation phenomenon charact erized by a short PR interval (<120 ms) and normal QRS duration, in association with paroxy sms of supraventricular tachycardia but not atrial \202 utter or \201 brillation. Patie nts without a history of tachycardia may be described as having accelerated AV nodal conduc tion. Although \201 rst described by Clerc in 1938, the eponymous individuals reported th is syndrome in 1952. No single structural abnormality has been found to be the cause of thi s syndrome. It may be due to intranodal or paranodal \201 bres that bypass the AV node. M ost patients at electrophysiological study have been found to have a reason other than a by pass tract for their paroxysmal tachycardia, such as atrioventricular node re-entrant tachy cardia (AVNRT). Therefore, this is a syndrome of a pre-electrophysiological study era that describes a clinical phenomenon of paroxysmal tachycardia with a short PR interval that may be at one end of the normal range (2 \200\2234 % of adults have PR<120 ms). 3 1 Schmitz K, Lins H, Behrens-Baumann W (2003). Bilateral spontaneous corneal perforation as sociated with complete external ophthalmoplegia in mitochondrial myopathy (Kearns \200\223S ayre syndrome). Cornea 22 (3): 267 \200\223270. 2 Leber (1868). Beitr ge zur Kenntniss der atrophischen Ver nderungen des Sehnerven nebst Bemerkungen ber normale Structur des Ner ven. Archiv f r Ophthalmologie, Berlin 14 : 164 \200\22376. 3 Lown B, Ganong WF, Levine SA (1952). The syndrome of short PR interval, normal QRS complex, and paroxysmal rapid heart action. Circulation 5 : 693 \200\223706. 704 CHAPTER 16 Eponymous syndromes Libman \200\223Sacks syndrome A cardiac manifestation of systemic lupus erythematosus, whic h occurs late in the disease process, and is found in 50 % of patients with fatal lupus at post-mortem. It characterized by sterile, verrucous lesions on valve lea \202 ets and chor dae consisting of \201 brin, neutrophils, lymphocytes, and histiocytes. The mitral and ao rtic valves are most commonly affected, although most cases are clinically silent. Valvular regurgitation is more common than stenosis. Similar lesions may occur in association with the antiphospholipid syndrome. Women are more commonly affected. 1 Lutembacher \200\231s syndrome The combination of mitral stenosis (congenital or acquired) and ASD (congenital or iatrogenic), with left-to-right shunt. If the ASD is large, pulmonar y hypertension is avoided, but with the consequence of progressive right heart dilatation. 2 Marfan syndrome A disorder resulting from mutations in the FBN1 gene on chromosome 15q21.1 encoding \201 brillin-1, which constitutes the micro \201 brils that make up the extrace llular matrix. Features include tall stature, kyphosis, scoliosis, pectus excavatum, upward s lens dislocation, dural ectasia, retinal detachment, and a variety of cardiac abnormaliti es. These include mitral valve prolapse and regurgitation, dilated sinuses of Valsalva, aor tic root dilatation with aortic regurgitation and increased risk of dissection, and arrhyth mias. Patients may be at increased risk of endocarditis secondary to the valve abnormalitie s. 75 % are inherited as autosomal dominant; the remainder occur sporadically. 3 Morquio \200\231s syndrome One of the mucopolysaccharide storage dis- orders, designated mu copolysaccharidosis IVB (MPSIVB), inherited in an autosomal recessive manner. Two types are recognized. Type A is caused by de \201 ciency of galactosamine-6-sulphatase, whereas typ e B is caused by de \201 ciency in beta galactosidase. Clinical features include short sta ture, skeletal and joint abnormalities, cloudy corneas, hepatomegaly, and aortic and mitral regurgitation. Heart failure may result from either an in \201 ltrative cardiomyopahthy o r valvular regurgitation. 4 1 Libman E, Sacks B (1924). A hitherto undescribed form of valvular and mural endocarditis. Arch Intern Med Chicago 33 : 701 \200\22337. 2 Lutembacher R (1916). De la st nose mitral e avec communication interauriculaire. Archives des Maladies du Coeur et des Vaisseaux Pari s 9 : 237 \200\22360. 3 Marfan AB (1896). Un cas de d formation cong nitale des quatre me mbres, plus prononc e aux extr mit s, caracteris e par l \200\231allongement des os ave c un certain degr d \200\231aminicissement. Bulletins et Memoires de la Soci t Medical e des H pitaux de Paris 13 : 220 \200\2236. 4 Morquio L (1929). Sur une forme de dystrophi e osseuse familiale. Archives de M decine des Enfants, Paris 32 : 129 \200\22335. This page intentionally left blank 706 CHAPTER 16 Eponymous syndromes N \200\223W Noonan \200\231s syndrome A dysmorphic syndrome characterized by cardiac anomal ies, short stature, low-set ears, hypertelorism, deafness, and bleeding diathesis. It is in herited in an autosomal dominant manner. Cardiac problems include valvular pulmonary stenos is. This syndrome has sometimes been called \200\230male Turner \200\231s syndrome \200 \231, although it affects both sexes, and, in contrast, has no chromosomal abnormalities. 1 Ortner \200\231s syndrome First described as compression of the recurrent laryngeal nerve b y a dilated left atrium in mitral valve stenosis, giving rise to a hoarse voice from vocal cord paresis. Sometimes used to describe any non-malignant cardiac or intrathoracic process that damages the recurrent laryngeal nerve. The left nerve is more commonly affected than the right, due to its longer course around the aortic arch. Pompe disease An autosomal recessive metabolic disorder caused by an accumulation of glycog en within lysosomes due to de \201 ciency of the enzyme alpha-glucosidase. Cardiac manifes tations include left ventricular hypertrophy, out \202 ow tract obstruction, and heart fai lure. The disease can present in infants, juveniles, or adults. Treatment is available in t he form of enzyme-replacement therapy. 2 Prinzmetal \200\231s (variant) angina Angina resulting from spasm of a coronary artery, whi ch may lead to heart block and myocardial infarction. It may be prevented by long-acting ca lcium antagonists. 3 Romano \200\223Ward syndrome An autosomal dominant condition caused by mutation in genes on chromosomes 3, 4, 7, 11, and 21 encoding different components of both sodium and potassium channels. The QT interval is prolonged and there is a high risk of developing torsades de pointes and sudden cardiac death (SCD). It not associated with deafness and is therefore di stinct from Jervell \200\223Lange \200\223Nielson syndrome. Shprintzen syndrome A disorder caused by mutation in the TBX1 gene, which is also responsib le for the DiGeorge syndrome. The characteristic features are cardiac anomalies (most commo nly VSD), cleft palate, learning dif \201 culties, and typical facies including prominent nose, narrow palpebral \201 ssures, and micrognathia. Also known as the velocardiofacial syndrome. Stokes \200\223Adams syndrome Syncope caused by cardiac arrhythmia. Also known as Spens syn drome and Morgagni \200\231s syndrome. 4 , 5 1 Noonan A, Ehmke DA (1963). Associated noncardiac malformations in children with congenita l heart disease. J Pediatr St Louis 63 : 468 \200\22370. 2 Pompe JC (1932). Over idiopathis che hypertrophie van het hart. Ned Tijdschr Geneeskd 76 : 304 \200\22312. 3 Prinzmetal M, M assumi RA (1955). The anterior chest wall syndrome-chest pain resembling pain or cardiac or igin. JAMA 159 : 177 \200\22384. 4 Adams R (1827). Cases of diseases of the heart, accompan ied with pathological observations. Dublin Hospital Reports 4 : 353 \200\223453. 5 Stokes W (1846). Observations on some cases of permanently slow pulse. Dublin Q J Med Sci 2 : 73 \200\22385. N \200\223W 707 Sydenham \200\231s chorea A delayed manifestation of rheumatic fever, due to an in \202 am matory reaction caused by autoantibodies in the basal ganglia and caudate nuclei, following group A streptococcal infection. It usually occurs three months after the initial infectio n and symptoms may last for up to two weeks. It is characterized by involuntary movements, muscle incoordination, and emotional lability. Takotsubo cardiomyopathy A syndrome that mimics acute coronary syndrome, with chest pain, i schaemic electrocardiogram (ECG) changes, and elevated cardiac enzymes. It is typically tri ggered by emotional or physical stress. Angiography usually demonstrates unobstructed coron ary arteries, and characteristic echocardiography \201 ndings include ballooning of the l eft ventricular apex with a hypercontractile base, which earned the syndrome its name, mean ing \200\230octopus trap \200\231 in Japanese. Treatment is supportive and patients usuall y recover completely. 1 Taussig \200\223Bing syndrome A congenital anomaly in which the aorta arises from the right ventricle, the pulmonary artery arises from both ventricles, and there is an associated VS D. 2 Tietze \200\231s syndrome In \202 ammation of the costochondral cartilages of unknown etio logy. There is characteristic swelling of the cartilages, which distinguishes the syndrome from other types of costochondritis, and the swelling may persist after the pain has resolv ed. Mostly men in their third decade are affected. 3 Townes \200\223Brocks syndrome An autosomal dominant condition describing the association o f imperforate anus, and abnormalities of the kidneys, hand, foot, and ear, sporadically ass ociated with cardiac malformations including VSD and ASD. Turner \200\231s syndrome A disorder resulting from the absence of one of the X chromosomes , XO. Features include coarctation of the aorta, short stature, absence of secondary sexual characteristics, webbing of the neck, cubitus valgus, and lymphoedema. It is one of the mo st common chromosomal abnormalities. 4 1 Sato H, Tateishi H, Uchida T, Dote K, Ishihara M, Sasaki K et al (1990). Tako-tsubo-like left ventricular dysfunction due to multivessel coronary spasm. In: Kodama K, Haze K, Hori M, eds. Clinical Aspect of Myocardial Injury: from ischaemia to heart failure. Tokyo: Kagak uhyouronsya: pp. 56 \200\22364. 2 Taussig HB, Bing RJ (1949). Complete transposition of the aorta and levoposition of the pulmonary artery: clinical, physiological, and pathological \201 ndings. Am Heart J, St Louis 37 : 551 \200\2239. 3 Tietze A (1921). \234ber eine ei genartige H ufung von F llen mit Dystrophie der Rippenknorpel. Berliner klinische Wochens chrift 58 : 829 \200\22331. 4 Turner HH (1938). A syndrome of infantilism, congenital webbe d neck, and cubitus valgus. Endocrinology 23 : 566 \200\22374. 708 CHAPTER 16 Eponymous syndromes Twiddler \200\231s syndrome Not strictly an eponym. The phenomenon of permanent malfunction of a pacemaker due to the patient \200\231s manipulation of the pulse generator. 1 Wenkebach \200\231s heart A description of a heart located in the midline which is smaller than normal. Also known as mesocardia, or the \200\230hanging heart \200\231. Wenkebach \200\231s phenomenon A form of second degree atrioventri- cular heart block chara cterized by progressive lengthening of the PR interval on the ECG until a P wave is not con ducted to the ventricles. 2 Williams syndrome A congenital supravalvular aortic stenosis associated with peripheral pul monary artery stenosis, hypercalcaemia, el \201 n facies, outgoing personality, learning d if \201 culties, strabismus, and dental anomalies. The left ventricle may be hypertrophied , and the sinuses of Valsalva may be dilated. In addition, the coronary arteries may be dil ated or tortuous, and demonstrate accelerated atherosclerosis. The patient is at higher ris k of endocarditis and sudden death than unaffected individuals. Autosomal dominant transmis sion is observed if this syndrome is inherited. Wolff \200\223Parkinson \200\223White syndrome Tachyarrhythmias that occur as a result of a n accessory atrioventricular pathway, typi \201 ed by the ECG features in sinus rhythm of a PR interval less than 120 ms and QRS duration greater than 120 ms caused by a delta wave, representing antegrade conduction through the accessory pathway. Patients can have intermi ttent conduction via this pathway, leading to variable ECG patterns. 3 1 Bayliss CE, Turner HH (1968). The pacemaker-twiddler \200\231s syndrome: a new complicati on of implantable transvenous pacemakers. Can Med Assoc J 99 (8): 371 \200\2233. 2 Wenckeba ck KF (1898). De Analyze van den onregelmatigen Pols. III. Over eenige Vormen van Allorythm ie en Bradykardie. Nederlandsch Tijdschrift voor Geneeskunde , Amsterdam 2 : 1132. 3 Wolff L, Parkinson J, White PD (1930). Bundle-branch block with short P \200\223R interval in hea lthy young people prone to paroxysmal tachyardia. Am Heart J St Louis 5 : 685. 709 Chapter 17 Cardiovascular emergencies Adult basic life support 710 Adult advanced life support 712 Universal treatment algorithm 716 Primary percutaneous coronary intervention for acute ST-segment elevation myocardial in farction 718 Acute MI: thrombolysis protocol 719 Acute myocardial infarction 720 Treatment options in ta chyarrhythmias 721 Ventricular tachycardia: drugs 722 Supraventricular tachyarrhythmias 723 Acute pulmonary oedema: assessment 724 Pulmonary oedema: causes 726 Pulmonary oedema: mana gement 728 Pulmonary oedema: speci \201 c conditions 732 Acute aortic regurgitation 734 Ac ute mitral regurgitation 736 Deep vein thrombosis: assessment 738 Deep vein thrombosis: man agement 740 Pulmonary embolism: assessment 742 Pulmonary embolism: investigations 744 Pulmo nary embolism: management 748 Fat embolism 752 Hypertensive emergencies 754 Hypertensive em ergencies: management 756 Drugs for hypertensive emergencies 760 Hypertensive emergency wit h retinopathy (accelerated and malignant hypertension) 762 Hypertensive encephalopathy 764 Aortic dissection: assessment 7 66 Aortic dissection: investigations 768 Aortic dissection: management 770 Acute pericardit is: assessment 774 Acute pericarditis: management 776 Cardiac tamponade: presentation 778 C ardiac tamponade: management 780 710 CHAPTER 17 Cardiovascular emergencies Adult basic life support Basic life support (BLS) is the backbone of effective resuscitatio n following a cardiorespiratory arrest. The aim is to maintain adequate ventilation and cir culation until the underlying cause for the arrest can be reversed. 3 \200\2234 minutes wit hout adequate perfusion (less if the patient is hypoxic) will lead to irreversible cerebral damage. The usual scenario is an unrespon- sive patient found by staff, who alert the card iac arrest team. The initial assessment described below should have already been performed by the person \201 nding the patient. The same person should have also started car- diopu lmonary resuscitation (CPR). Occasionally you will be the \201 rst to discover the patien t, and it is important to rapidly assess the patient and begin CPR. The various stages in b asic life support are described here and summarized in Fig. 17.1 . 1. Assessment of the patient \200 Ensure safety of rescuer and victim \200 Check whethe r the patient is responsive . Gently shake victim and ask loudly \200\230 are you all right ? \200\231 (a) If victim responds, place him/her in the recovery position and get help. (b) If victim is unresponsive, shout for help and move on to assess airway (see below). 2. Airway assessment \200 Open the airway . With two \201 ngertips under the point of t he chin, tilt the head up. If this fails, place your \201 ngers behind the angles of the lower jaw and apply steady pressure upwards and forwards. Remove ill- \201 tting dentures and any obvious obstruction. If the patient starts breathing, roll the patient over into th e recovery position and try to keep the airway open until an orophyrangeal airway can be in serted. Keep airway open, look, listen, and feel for breathing . Look for chest movements, listen at the victim \200\231s mouth for breathing sounds and feel for air on yo ur cheek (for no more than 10 seconds). (a) If patient is breathing, turn them into the recovery position, check for continued breathing and get help. (b) If patient is not breathing, making occasional gasps, or weak attempts at breathing, se nd someone (or go for help if alone). (On return) start rescue breaths by giving two slow e ffective breaths, each resulting in a visible rise and fall in the chest wall. 3. Assessment of circulation \200 Assess signs of circulation by feeling the carotid puls e for no more than 10 s. (a) If there are signs of circulation but no breathing, continue rescue breaths and check for signs of breathing every 10 breaths (approximately one breath a minute). (b) If there are no signs of circulation start chest compression at a rate of 100 times per minute. Combine rescue breaths and compression at the rate of 15 compressions to two effec tive breaths. The ratio of compressions to lung in \202 ation remains the same for resuscitation with two persons. ADULT BASIC LIFE SUPPORT 711 Check responsiveness Shake and shout Open airway Head tilt/chin lift If breathing: recovery position Check breathing Look, listen, and feel Breathe 2 effective breaths Assess 10 s only Signs of a circulation No circulation Compress chest Circulation present Continue rescue breathing Check circulation every minute 100 per minute 15:2 ratio Send or go for help as soon as possible according to guidelines Fig. 17.1 Adult basic life support. For further information see The Resuscitation Council ( UK) website Y http://www.resus.org.uk/. 712 CHAPTER 17 Cardiovascular emergencies Adult advanced life support \200 It is unlikely that an effective spontaneous cardiac act ivity will be restored by basic life support without more advanced techniques (intubation f or effective ventilation, drugs, de \201 brillation, etc.). Do not waste time. As soon as help arrives, delegate CPR to someone less experienced in advanced cardiac life support (AC LS), so that you are able to continue. Attach the patient to a cardiac monitor as soon as possible to determine the cardiac rhythm and treat appropriately (see b Universal treatment algorithm, p. 716). Orophyrangeal (Guedel) or nasopharyngeal airways help maintain the patency of the airway by keeping the tongue out of the way. They can cause vomiting if the patient is not comatose. Endotracheal (ET) intubation is the best method of securing th e airway. Do not attempt this if you are inexperienced. See also Figs. 17.2 and 17.3. Establish venous access. Central vein cannulation (internal jugular or subclavian) is ideal but requires more training and practice, and is not for the inexper ienced. If venous access fails, drugs may be given via an ET tube into the lungs (except fo r bicarbonate and calcium salts). Double the dose of drug if using this route, as absorptio n is less ef \201 cient than IV. Post-resuscitation care \200 Try to establish the events that precipitated the arrest fro m the history, staff, witnesses, and the hospital notes of the patient. Is there an obvious cause (myocardial infarction (MI), hypoxia, hypoglycaemia, stroke, drug overdose or interaction, electrolyte abnormality, etc.)? Record the duration of the arrest in the notes, with the i nterventions, drugs (and doses) in chronological order. Examine the patient to check both lung \201 elds are being ventilated; check for ribs tha t may have broken during CPR. Listen for any cardiac murmurs. Check the neck veins. Examine the abdomen for an aneurysm or signs of peritonism. Insert a urinary catheter. Consider a nasogastric (NG) tube if the patient remains unconscious. Record the Glasgow Coma Score and perform a brief neurological assessment. \200 Investigations: electrocardiogram (ECG) (l ooking for MI, ischaemia, tall T waves ( i K + )); arterial blood gasses (ABG) (mixed metabolic and respiratory acido sis is common and usually responds to adequate oxygenation and ventilation once the circula tion is restored; if severe, consider bicarbonate); chest X-ray (CXR; check position of ET tube, look for pneumothorax); urea and electrolytes (U&Es), and glucose . \200 After earl y and successful resuscitation from a primary cardiac arrest, the patient may rapidly recov er completely. The patient must be transferred to high-dependency unit (HDU) or coronary ca re unit (CCU) to monitor for 12 \200\22324 h. Commonly the patient is unconscious post-arre st and should be transferred to the intensive therapy unit (ITU) for mechanical ventilation and haemodynamic monitoring and support for (cid:116)24 hours. ADULT ADVANCED LIFE SUPPORT 713 Change any venous lines that were inserted at the time of arrest for central lines inserted with sterile technique. Insert an arterial line and consider a pulmonary artery (PA) cathe ter (Swan \200\223Ganz) if requiring inotropes. Remember to talk to the relatives. Keep them informed of events and give a realistic (if bl eak) picture of the arrest and possible outcomes. \200 When appropriate, consider the pos sibility of organ donation and do not be frightened to discuss this with the relatives. Eve n if discussion with the relatives is delayed, remember corneas and heart valves may be use d up to 24 hours after death. Jaw lift to open the airway Jaw thrust (thrust the angle of the mandible upwards) Fig. 17.2 Opening airways. Reproduced with permission from Ramrakha P, Moore K, Sam M (2010 ). Oxford Handbook of Acute Medicine , 3rd ed. Oxford: Oxford University Press. 714 CHAPTER 17 Cardiovascular emergencies Insertion of oropharyngeal airway Insertion of nasopharyngeal airway Fig. 17.3 Insertion of nasopharyngeal airway. Reproduced with permission from Ramrakha P, M oore K, Sam M (2010). Oxford Handbook of Acute Medicine , 3rd ed. Oxford: Oxford University Press. This page intentionally left blank 716 CHAPTER 17 Cardiovascular emergencies