Asymptomatic bicuspid aortic valves diagnosed in childhood need regular monitoring to allow early surgical intervention and prevention of left ventricular failur

Bastiaenen, Rachel

Hayward, Martin

McEwan, Jean R

Saha, Sagar

PubMed

Sagar Saha

Rachel Bastiaenen

Martin Hayward

Jean R McEwan

Crossref

An undiagnosed bicuspid aortic valve can result in severe left ventricular failure

McEwan, Jean R.

UCL Discovery

doi:10.1136/bmj.39065.624815.80  2007;334;420-422  BMJ  Sagar Saha, Rachel Bastiaenen, Martin Hayward and Jean R McEwan     result in severe left ventricular failureAn undiagnosed bicuspid aortic valve can  http://bmj.com/cgi/content/full/334/7590/420Updated information and services can be found at:   These include:  References    http://bmj.com/cgi/content/full/334/7590/420#BIBLThis article cites 12 articles, 4 of which can be accessed free at: Rapid responses  http://bmj.com/cgi/eletter-submit/334/7590/420You can respond to this article at:   serviceEmail alertingbox at the top left of the article Receive free email alerts when new articles cite this article - sign up in theTopic collections (1850 articles)  Other Pediatrics    (2094 articles)  Other Cardiovascular Medicine     Articles on similar topics can be found in the following collections   Notes   To order reprints follow the "Request Permissions" link in the navigation box   http://resources.bmj.com/bmj/subscribers go to:  BMJ To subscribe to  on 7 September 2007  bmj.com Downloaded from PRACTICE420	 	 	 BMJ |  24 feBruary 2007 | VoluMe 334Asymptomatic bicuspid aortic valves diagnosed in childhood need regular monitoring to allow early surgical intervention and prevention of left ventricular failureBicuspid aortic valve occurs in 0.8-2% of European and North American populations.1 2 �t is the most common reason for a predisposition to severe aortic regurgitation or stenosis in middle life, but patients are asymptomatic until late in the disease. Failure to present until clinical symptoms develop—either because the murmur is not detected or is lost to fol-low-up—can have important consequences. Early detection and continued surveillance are crucial to allow early intervention and preservation of cardiac function. We describe two patients with heart mur-murs diagnosed in childhood who were lost to fol-low-up. Both presented as adults with heart failure and complications of bicuspid aortic valves. One developed aortic stenosis, the other aortic incompe-tence. Both needed urgent surgery. Many people in the general population with bicuspid aortic valves have never been diagnosed or have been reassured in childhood and are no longer under review.Case 1A 48 year old builder presented with shortness of breath at rest and mild icterus. He had been prescribed antibi-otics for a presumed chest infection when he visited his general practitioner six months earlier. A heart murmur was noted during that consultation but not followed up. He later recalled that as a child he underwent annual lEsson oF ThE WEEkan undiagnosed bicuspid aortic valve can result in severe left ventricular failureSagar Saha, Rachel Bastiaenen, Martin Hayward, Jean R McEwanreview for a heart murmur. At age 16 he was reassured and discharged from clinic.On clinical examination the patient had severe aortic stenosis with a slow rising pulse, narrow pulse pressure, and an ejection systolic murmur radiating to the carotids. He had left ventricular failure.The transthoracic echocardiogram showed a bicuspid aortic valve with severe stenosis (peak pressure gradi-ent 70 mm Hg). The left ventricle was severely dilated and impaired.Early admission for valve replacement was arranged but he developed hepatorenal failure, which necessi-tated emergency surgery. The excised bicuspid aortic valve was heavily calcified with a pinhole orifice. �t was replaced with a metal prosthesis and the mildly dilated aorta was supported by a pericardial wrap. Renal and liver function improved after the operation. The left ventricle remains dilated and impaired.Case 2A 46 year old postman was admitted with increasing shortness of breath on minimal exertion (New York Heart Association functional class ���). �n early child-hood, he had been diagnosed with a heart murmur and followed up in a tertiary centre. At age 10 he was either discharged or stopped attending appointments.Clinically he had severe aortic regurgitation with a collapsing pulse, positive Corrigan’s sign, a loud early diastolic murmur, and additional diastolic deep rum-ble (Austin Flint murmur). He had evidence of cardiac failure. �nflammatory markers were normal and blood cultures were sterile.His electrocardiogram showed left ventricular hyper-trophy with widespread fixed T wave inversion (fig 1). The transthoracic echocardiogram confirmed a calcified bicuspid aortic valve with an eccentric jet of severe aor-tic regurgitation directed along the anterior mitral valve leaflet. The ascending aorta was dilated. He had severe left ventricular dilatation and impairment (fig 2).He responded to initial treatment with diuretics. Angiography showed normal coronary arteries. He underwent urgent aortic valve replacement during that admission. The ascending aorta measured 5 cm intraoperatively and was therefore also replaced.DiscussionThe normal aortic valve has three almost equally sized leaflets. A bicuspid aortic valve is the result of abnormal aortic cusp formation during valvulogenesis. Although bicuspid aortic valves can function normally, the valve leaflets are subject to increased haemodynamic stress because of their shape and can therefore degenerate, Heart Hospital, London W1G 8PHCorrespondence to: J r Mcewan j.mcewan@ucl.ac.uk bmj 2007;334:420-2doi: 10.1136/bmj.39065.624815.80Fig 1 | electrocardiogram showing left ventricular hypertrophy with widespread fixed T wave inversion on 7 September 2007  bmj.com Downloaded from PRACTICEBMJ |  24 feBruary 2007 | VoluMe 334           421calcify, and stenose or become incompetent. Bicuspid aortic valves also predispose the patient to endocar-ditis and are strongly associated with aneurysms and dissection of the aorta.3 4 Bicuspid aortic valves have been suggested to be associated with greater mortality and morbidity than all other congenital heart defects combined.5The proposed 0.8-2% prevalence of bicuspid aortic valves in the general UK population would equate to 16-40 patients in an average general practice population of 2000 patients. Bicuspid aortic valves are present in 54% of adults with valvular aortic stenosis who have aortic valve replacement and are the main reason for aortic valve replacement up to the eighth decade of life.6 As the incidence of rheumatic heart disease falls, a greater proportion of patients who have aortic valve replacement will have bicuspid aortic valves. By their second decade most patients with this condition have evidence of valvular calcification. The pressure gradi-ent across a stenotic bicuspid aortic valve increases by 18 mm Hg each decade and even more rapidly if the cusps are asymmetric in size or in the anteroposterior location.7Bicuspid aortic valves present as aortic regurgitation in 66% of cases.1 Patients with such regurgitation need surgery at an earlier age than those with aortic stenosis.4 8 This may reflect the association with coarctation of the aorta and the complication of infective endocarditis.9Clinical diagnosis of bicuspid aortic valves by aus-cultation of an aortic ejection click is beyond the skill of most non-specialists, but often an ejection systolic murmur is present and easily heard. Diagnosis is most simply confirmed with cross sectional and Doppler echocardiography. Transthoracic echocardiography has a sensitivity of 78% and specificity of 96% for the identification of a bicuspid aortic valve (though the underlying pathology may be obscured when severe stenosis, cuspal fusion, or a prominent raphe is present). Transoesophageal echocardiography may be better at identifying bicuspid aortic valves,10 but it is not usually carried out for purely diagnostic purposes.Because transthoracic echocardiography was not widely available until 15 years ago, and general prac-titioners have had access only in recent years, many patients have had no definitive diagnosis of their child-hood murmur. A further population has defaulted or been lost to follow-up. Women may be more likely than men to be identified as the heart is usually examined at the antenatal clinic.Once the diagnosis is made, the patient needs follow-up with transthoracic echocardiography three to five yearly because aortic valve disease progresses inexora-bly. When a gradient of 20 mm Hg or more develops or when greater than mild aortic regurgitation is noted, annual review should be offered until symptoms or the degree of dysfunction indicate the need for surgery.11No drugs have been found to reduce the progres-sion of stenosis, though trials of statins are under way.12 Antibiotic prophylaxis for dental work is advised by the European and US cardiac societies.11 13 Screening of first degree relatives of patients with a bicuspid valve is also advocated because of the high degree of familial association.14Our cases highlight the potential complications of a bicuspid valve, which could have been prevented by regular monitoring and earlier surgery. Avoiding urgent and emergency surgery has advantages in terms of surgical mortality (perioperative mortal-ity for first time aortic valve replacement in the United Kingdom: emergency surgery 12%; urgent 5%; elective 1.9%; personal communication, Bruce Keogh, Society of Cardiothoracic Surgeons and AD Cunningham, Central Cardiac Audit Database) and the longer term effects of ventricular impairment. Bicuspid valves are present in many people who were reassured in early life or lost to follow-up and in many “healthy” middle aged men whose hearts have never been examined. These patients could be identified by auscultation and echocardiography and referred to cardiologists at an early stage. This approach would increase demand for echocardiog-raphy, and population screening would have wider implications.Contributors: SS and RB wrote the initial draft and MH and JRM revised it. JRM is guarantor. The authors all cared for these patients and conceived the idea of the report.funding: None.Competing interests: None declared.1	 	 Nistri	S,	Basso	C,	Marzari	C,	Mormino	P,	Thiene	G.	Frequencyof Frequency	of	bicuspid	aortic	valve	in	young	male	conscripts	by	echocardiogram.	Am J Cardiol	2005;96:718-21.2	 	 Roberts	WC.	The	congenitally	bicuspid	aortic	valve.	A	study	of	85	autopsy	cases.	Am J Cardiol	1970;26:72-83.3	 	 Fedak	PW,	David	TE,	Borger	M,	Verma	S,	Butany	J,	Weisel	RD.	Bicuspid	aortic	valve	disease:	recent	insights	in	pathophysiology	and	treatment.	Expert Rev Cardiovasc Ther	2005;3:295-308.4	 	 Olson,	LJ,	Subramanian	R,	Edwards	WD.	Surgical	pathology	of	pure	aortic	insufficiency:	a	study	of	225	cases.	Mayo Clinic Proc	1984;59:835-41.5	 	 Ward	C.	Clinical	significance	of	the	bicuspid	aortic	valve.	Heart	2000;83:81-5.6	 	 Roberts	WC,	Ko	JM.	Frequency	by	decades	of	unicuspid,	bicuspid,	and	tricuspid	aortic	valves	in	adults	having	isolated	aortic	valve	replacement	for	aortic	stenosis,	with	or	without	associated	aortic	regurgitation.	Circulation	2005;111:920-5.7	 	 Beppu	S,	Suzuki	S,	Matsuda	H,	Ohmori	F,	Nagata	S,	Miyatake	K.	Rapidity	of	progression	of	aortic	stenosis	in	patients	with	congenital	bicuspid	aortic	valves.	Am J Cardiol	1993;71:322-7.8	 	 Subramanian	R,	Olson	LJ,	Edwards	WD.	Surgical	pathology	of	pure	aortic	stenosis:	a	study	of	374	cases.	Mayo Clin Proc	1984;59:	683-90.Fig 2 | Transthoracic echocardiogram showing a calcified bicuspid aortic valve with an eccentric jet of moderate to severe aortic regurgitation directed along the anterior mitral valve leaflet. severe left ventricular dilatation is present on 7 September 2007  bmj.com Downloaded from PRACTICE422	 	 	 BMJ |  24 feBruary 2007 | VoluMe 3349	 	 Lamas	CC,	Eykyn	SJ.	Bicuspid	aortic	valve—a	silent	danger:	analysis	of	50	cases	of	infective	endocarditis.	Clin Infect Dis	2000;30:336-41.10		 Espinal	M,	Fuisz	AR,	Nanda	NC,	Aaluri	SR,	Mukhtar	O,	Sekar	PC.	Sensitivity	and	specificity	of	transesophageal	echocardiography	for	determination	of	aortic	valve	morphology.	Am Heart J	2000;139:1071-6.11		 Bonow	RO,	Carabello	BA,	Kanu	C,	de	Leon	AC	Jr,	Faxon	DP,	Freed	MD,	et	al.	ACC/AHA	2006	guidelines	for	the	management	of	patients	with	valvular	heart	disease:	a	report	of	the	American	College	of	Cardiology/American	Heart	Association	task	force	on	practice	guidelines	(writing	committee	to	revise	the	1998	guidelines	for	the	management	of	patients	with	valvular	heart	disease):	developed	in	collaboration	with	the	Society	of	Cardiovascular	Anesthesiologists:	endorsed	by	the	Society	for	Cardiovascular	Angiography	and	Interventions	and	the	Society	of	Thoracic	Surgeons.	Circulation	2006;114:e84-231.12		 Newby	DE,	Cowell	SJ,	Boon	NA,	Emerging	medical	treatments	for	aortic	stenosis:	statins,	angiotensin	converting	enzyme	inhibitors,	or	both?	Heart	2006;92:729-34.13		 Horstkotte	D,	Follath	F,	Gutschik	E,	Lengyel	M,	Oto	A,	Pavie	A,	et	al.	Guidelinesonprevention,diagnosisandtreatmentofinfective Guidelines	on	prevention,	diagnosis	and	treatment	of	infective	endocarditis	executive	summary;	the	task	force	on	infective	endocarditis	of	the	European	Society	of	Cardiology.	Eur Heart J	2004;25:267-76.14		 Huntington	K,	Hunter	AG,	Chan	KL.	A	prospective	study	to	assess	the	frequency	of	familial	clustering	of	congenital	bicuspid	aortic	valve.	J Am Coll Cardiol	1997;30:1809-12.accepted: 11 December 2006Research question	What	are	the	comparative	effects	of	paroxetine	and	cognitive	behaviour	therapy	in	treating	severe	hypochondriasis?Answer	Paroxetine	probably	works	as	well	as	cognitive	therapy	but	causes	more	side	effectsWhy did the authors do the study?	Hypochondriasis	is	a	common	mental	illness	with	a	reputation	for	being	hard	to	treat.	There’s	some	evidence	that	cognitive	behaviour	therapy	improves	symptoms,	but	the	evidence	for	antidepressants	is	much	weaker.	There	are	no	high	quality	head	to	head	trials	comparing	the	two.What did they do? They	recruited	112	Dutch	adults	to	a	randomised	controlled	trial	comparing	cognitive	behaviour	therapy,	the	selective	serotonin	reuptake	inhibitor	paroxetine,	and	a	placebo.	The	comparison	between	paroxetine	(up	to	60	mg	a	day)	and	the	placebo	was	double	blind,	and	the	main	analyses	were	intention	to	treat.	The	trial	lasted	16	weeks.All	the	participants	had	severe	symptoms	of	hypochondriasis,	and	three	quarters	had	other	mood	or	anxiety	disorders.	One	in	five	(21/112)	continued	to	take	benzodiazepines	during	the	trial.The	authors	assessed	participants	before	and	after	treatment	using	the	Whitely	index,	a	standard	instrument	for	measuring	the	core	symptoms	of	hypochondriasis.	They	used	other	standard	instruments	to	measure	changes	in	comorbid	mood	and	anxiety	symptoms.What did they find?	All	the	groups	improved	significantly	during	the	trial.	There	were	no	significant	differences	between	the	cognitive	behaviour	therapy	and	the	paroxetine	group	on	any	outcome	measure,	including	change	in	the	Whitely	index	score.	In	a	pooled	analysis	of	data	from	both	treatment	groups,	active	treatment	worked	better	than	placebo.	The	effect	sizes	on	the	Whitely	index	were	0.44	(modest)	for	cognitive	behaviour	therapy	versus	placebo,	and	0.4	(slightly	more	modest)	for	paroxetine	versus	placebo.Forty	five	per	cent	of	those	treated	with	cognitive	behaviour	therapy	responded	to	treatment	(a	change	of	≥1	standard	deviation	in	Whitely	index	score),	as	did	30%	of	those	who	took	paroxetine	and	14%	of	those	who	took	a	placebo.	In	this	analysis,	cognitive	therapy	looked	significantly	better	than	placebo	(P=0.004),	but	paroxetine	did	not	(P=0.17).	Again,	the	two	active	treatments	did	not	differ	significantly	from	each	other.The	commonest	side	effects	that	were	reported	more	often	by	the	paroxetine	group	than	the	placebo	group	were	fatigue	(39%	v	29%,	P=0.02)	and	sexual	dysfunction,	including	anorgasmia,	(32%	v	9%,	P=0.01).Thirty	of	the	112	participants	dropped	out	of	their	assigned	treatment.	Participants	were	equally	likely	to	drop	out	of	all	three	groups.What does it mean? This	small	trial	confirms	that	up	to	four	months	of	cognitive	behaviour	therapy	helps	people	with	chronic	hypochondriasis,	improving	their	core	symptoms	as	well	as	comorbid	symptoms	of	depression	and	anxiety.	Paroxetine	probably	does	too,	although	the	results	for	this	treatment	were	less	robust	and	seemed	to	depend	more	on	patients	completing	their	treatment.	The	authors	don’t	report	a	power	calculation,	so	it’s	hard	to	know	whether	they	could	have	missed	a	clinically	important	difference	between	cognitive	behaviour	therapy	and	paroxetine.	In	any	event,	paroxetine	caused	more	side	effects.Greeven	et	al.	Cognitive	behavior	therapy	and	paroxetine	in	the	treatment	of	hypochondriasis:	a	randomized	controlled	trial. American Journal of Psychiatry 2007;164:91-9This summarises a paper that has been selected by bmjupdates.  To register for bmjupdates (free email about high quality new papers in your favourite subjects) go to http://bmjupdates.com/bmj UPDATEsHypochondriasis is treatable on 7 September 2007  bmj.com Downloaded from 

English

10 Espinal Sensitivity for Heart J 2000;139:1071-6.

11 Bonow et with Cardiology/American guidelines management collaboration endorsed Interventions 2006;114:e84-231.

12 Newby aortic both?

13 Horstkotte al. Guidelines endocarditis endocarditis Heart J 2004;25:267-76.

14 Huntington frequency Am Coll Cardiol

2 Roberts autopsy J Cardiol

3 Fedak aortic treatment. Rev Cardiovasc Ther

4 Olson, pure Clinic Proc 1984;59:835-41.

5 Ward 2000;83:81-5.

6 Roberts and replacement regurgitation.

7 Beppu Rapidity bicuspid J Cardiol

8 Subramanian aortic Clin Proc 683-90.

Am J Cardiol

Angiography showed normal coronary arteries. He underwent urgent aortic valve replacement during that admission. The ascending aorta measured 5 cm intraoperatively and was therefore also replaced. Discussion The normal aortic valve has three almost

An undiagnosed bicuspid aortic valve can result in severe left ventricular failure

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