Aase syndrome A clinical triad of congenital anaemia, triphalangeal thumbs, and VSD. The aetiology is unknown.

Adams-Stokes syncope See Stokes-Adams syndrome ( p. 706).

Alfidi’s syndrome Hypertension resulting from occlusion of the coeliac axis, leading to diversion of collateral blood flow from the right renal artery. Originally described as renal-splanchnic steal syndrome.¹

Andersen syndrome A triad of periodic paralysis, ventricular tachyarrythmias, and dysmorphic features (hypertelorism, micrognathia, low-set ears, and high arched or cleft palate, short stature, scoliosis, syndactyly, and clinodactyly). The periodic paralysis can be associated with hyper-, hypo-, or normokalaemia. It is an autosomal dominant condition associated with mutations in the KCNJ2 gene encoding the inward-rectifying K⁺ channel Kir2.1.²

Anderson-Fabry disease A rare X-linked recessive lysosomal storage disorder involving a deficiency 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 impairment, angiokeratomas, neuropathy, and corneal keratopathy. Treatment is now available in the form of enzyme-replacement therapy.

Barlow’s syndrome A familial form of mitral valve prolapse which is sometimes inherited as an autosomal dominant trait. It is a genetically heterogenous syndrome, characterized by ‘billowing’ of one or both of the mitral valve leaflets into the left atrium during systole. On auscultation there is a midsystolic click and a late or pansystolic 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, skeletal myopathy, short stature and neutropenia. 3-methylglutaconic acid excretion in the urine has been observed in almost all reported cases.

Beemer lethal malformation syndrome A lethal syndrome of double outlet right ventricle, hydrocephalus, dense bones, thrombocytopenia, and abnormal nasal development.

Bland-Garland-White syndrome (or ALCAPA) A congenital condition featuring anomalous origin of the left coronary artery arising from the pulmonary artery (ALCAPA) resulting in myocardial ischaemia. Affected infants typically present with congestive heart failure within the first 1-2 months of life. Definitive treatment involves surgical re-implantation of the left coronary artery or bypass grafting.¹

Bouillaud’s syndrome An eponym for rheumatic fever. Bouillaud was the first to emphasize the importance of cardiac involvement in the acute articular phase of rheumatic fever.²

Bourneville-Pringle disease Hamartomas of the heart and kidney associated with epilepsy, learning difficulties, cerebral cortical hamartomas (tuberose sclerosis), and adenoma sebaceum. It is inherited in an autosomal dominant manner. Renal cysts or carcinomas may occur.³

Bradbury-Egglseton syndrome An idiopathic disorder of autonomic failure characterized by orthostatic hypotension, with more widespread manifestations of thermoregulatory, bowel, bladder, and sexual function disturbance.

Brugada’s syndrome One of the principal causes of sudden cardiac death in young adults 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.

Clinically there is right bundle branch block, ST elevation in V₁ to V₃, and sudden death/syncope. The clinical phenotype may be unmasked by the administration of ajmaline (not available in the UK) or procainamide. The only effective treatment is with an implantable cardiac defibrillator.⁴

Carney syndrome Also known as the Carney complex. There is association of atrial myxomas with myxomas in other locations, e.g. breast or skin, spotty pigmentation, and endocrine overactivity, e.g. pituitary or testicular tumours. The inheritance is autosomal dominant, the mutation 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 the myxoma after removal, in contrast to sporadic cases.

DiGeorge syndrome A disorder resulting from deletion of the TBX1 gene on chromosome 22q11.2, leading to parathyroid hypoplasia (and hypocalcaemia), thymic hypoplasia (and low T-cell counts), and outflow tract defects of the heart, including tetralogy of Fallot, truncus ateriosus, interrupted aortic arch, right-sided aortic arch, and aberrant right 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 same gene.

Dressler syndrome A myocardial infarction-associated pericarditis, usually occurring one week after the onset of infarction, but may occur several months afterwards. An autoimmune aetiology is suspected due to the delay in development of the syndrome, the presence of antibodies against the heart, evidence of altered lymphocyte subsets and complement activation, frequent recurrences, associated pleuritis and pleural effusions, and response to non-steriodal drugs and steroids. There may be a pericardial rub, fever, pericardial and pleural effusions, 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 skeletal muscle weakness, which may mask dilated cardiomyopathy. There is a tendency for fibrosis to affect the posterolateral and posterobasal left ventricular wall. Supraventricular arrhythmias are more common than ventricular arrhythmias and heart block, which occur as the fibrosis becomes more widespread.

Ebstein’s anomaly A malformation in which there is an abnormal attachment of the tricuspid valve leaflets leading to a downward displacement of the tricuspid valve. A portion 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 ‘atrialized’, and a small right ventricular chamber exists. Tricuspid valve tissue is dysplastic. There is spectrum of severity in this condition, and it is associated with pulmonary stenosis 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 reversal or bidirectional flow of the shunt, with subsequent pulmonary hypertension and cyanosis. It was first described in a 32-year-old man with a ventricular septal defect in 1897.¹

Ellis-Van Creveld syndrome An autosomal recessive condition characterized by short stature caused by metaphyseal dysplasia, polydactyly, dysplastic nails and teeth, and, most commonly, primum ASD. Coarctation of the aorta, hypoplastic left heart, and patent ductus arteriosus (PDA) occur in 20% of cases.

Emery-Dreifuss muscular dystrophy A clinical triad of early contractures of the elbow, Achilles tendon, and posterior cervical muscles, progressive skeletal myopathy, and cardiac manifestations. These include sinus bradycardia, atrial fibrillation and atrial flutter initially, progressing to higher levels of AV block, sustained ventricular tachycardia and ventricular fibrillation. 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 responsible encoding a nuclear membrane protein called emerin.¹

Fabry disease See Anderson-Fabry disease ( p.438, p.698).

Fallot’s tetralogy The association of pulmonary stenosis, ventricular septal defect, over-riding aorta, and right ventricular hypertrophy, causing cyanosis in the newborn. This forms 10% of all congential heart disease, and is slightly more common in males. Fallot’s trilogy comprises pulmonary stenosis, strial septal defect, and intact ventricular septum, Fallot’s pentalogy is the addition of an atrial septum defect or patent foramen ovale to the tetralogy.²

Friedreich’s ataxia A spinocerebellar degenerative disease characterized by limb and trunk ataxia, skeletal deformities, dysarthria, and cardiomyopathy. Concentric left ventricular hypertrophy frequently occurs, as well as asymmetrical septal hypertrophy. Rarer is dilated cardiomyopathy.

There may be associated atrial arrhythmias. The condition is inherited in an autosomal dominant manner, with the mutation identified as an amplified, unstable GAA trinucleotide repeat found in the first intron of the frataxin gene on chromosome 9q13.

Friedreich’s disease Sudden collapse of the cervical veins that were previously distended at each diastole, caused by an adherent pericardium. Also known as mediastinopericarditis adhesiva, or Friedreich’s sign.

Holt-Oram syndrome An autosomal dominant condition, sometimes known as heart-hand 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 may be subtle, from having distally placed or triphalangeal thumbs, to more severe forms including hypolplastic clavicles and phocomelia.

Heyde’s syndrome The association of gastrointestinal bleeding and calcific aortic stenosis. Since Heyde’s original description in 1958, the bleeding has been shown to be due to an acquired von Willebrands disease type 2a caused by high shear stress around the aortic valve, leading to haemorrhage from arteriovenous malformations in the gut. The bleeding abnormality ceases after replacement of the valve.¹²