Surgery of mitral valve disease and coarctation of the aorta in Williams syndrome | |
DOI: 10.5606/e-cvsi.2015.300 | |
Şahin Bozok1, Nebiye Tüfekçi1, Gökhan İlhan1, Murtaza Emre Durakoğlugil2, Cemal Aslan1, Hızır Kazdal3 | |
1Departments of Cardiovascular Surgery, Medical Faculty of Recep Tayyip Erdoğan University, Training and Research Hospital, Rize, Turkey 2Departments of Cardiology, Medical Faculty of Recep Tayyip Erdoğan University, Training and Research Hospital, Rize, Turkey 3Departments of Anesthesiology and Reanimation, Medical Faculty of Recep Tayyip Erdoğan University, Training and Research Hospital, Rize, Turkey |
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Keywords: Coarctation of aorta; mitral valve regurgitation; one stage operation; Williams syndrome | |
Although coarctation of the aorta is frequently diagnosed and treated in childhood, some cases are unable to be diagnosed until adulthood.
Rarely, additional cardiovascular problems may accompany coarctation of the aorta in patients with genetic disturbances such as Williams
syndrome. Herein, we report a case who presented to emergency service with symptoms of congestive heart failure and atrial fibrillation
and underwent early, one-step surgery for severe mitral valve regurgitation and coarctation of the aorta after cardiac compensation. Genetic
study confirmed the diagnosis of Williams syndrome. |
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Williams syndrome is a hereditary, progressive,
multi-system disease characterized by peripheral
vascular disorders, mostly supravalvular aortic
stenosis (SVAS) and peripheral pulmonary stenosis
(PPS), dysmorphic “elfin facies”, a characteristic
cognitive profile, mild to moderate mental
retardation and developmental disabilities.[1]
Although supravalvular aortic stenosis (SVAS) tend
to progress with age, PPS usually becomes milder.[1,2]
We, herein report an interesting case demonstrating
that cardiac abnormalities of Williams syndrome
may not be solely confined to peripheral vascular
stenosis and very rarely atypical presentations may
also occur including tetralogy of Fallot, coarctation
of the aorta (CoA), and severe mitral valve prolapse
(MVP), as in our case. Coarctation of the aorta constitutes 6 to 8% of congenital cardiac malformations.[1] Additional cardiac pathologies may accompany CoA, necessitating open cardiac surgery.[1] In patients with additional cardiac malformations and clinically unstable condition, twostep surgery may increase mortality and morbidity. Therefore, one-step procedure seems preferable and may decrease risk. We, herein report a case who presented to emergency service with severe cardiac symptoms and was diagnosed with severe mitral valve regurgitation due to MVP. The patient underwent one-step successful surgery for accompanying CoA. |
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CASE PRESANTATION
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A 22-year-old male patient was admitted to the
emergency service department with complaints of
dyspnea, orthopnea, tachycardia, and syncope. The
patient was hospitalized with the diagnosis of New
York Heart Association (NYHA) Class III-IV acute
decompensated congestive heart failure. His previous
history included rheumatic heart disease, heart
failure, and infective endocarditis. Blood pressure was
140/70 mmHg in both arms, the mean pulse rate was
160 bpm and in tachycardia. Physical examination
revealed 4-5/6 systolic ejection murmur, bilateral rales
up to the mid-lung fields and mild pretibial edema.
Femoral pulses were not palpable and ankle-brachial
index was 0.7. Electrocardiography was notable for
atrial fibrillation with high ventricular response.
Chest radiograph demonstrated pulmonary congestion
and left atrial enlargement. Echocardiography
showed severe mitral and tricuspid regurgitation,
MVP, gigantic left atrium (10 cm), and a maximum
systolic pulmonary artery pressure of 40 mmHg. Suprajugular examination demonstrated systolic
gradient in descending aorta with a peak value of
60-100 mmHg. Meanwhile, intravenous diuretics
for congestion and digoxin and carvedilol for rate
control of atrial fibrillation was initiated. The patient
experienced polymorphic ventricular tachycardia and
subsequent ventricular fibrillation. Defibrillation and
brief cardiovascular resuscitation were performed.
Amiodarone infusion converted rhythm to sinus and
prevented ventricular tachycardia. Due to frequent
ventricular premature beats and bradycardia, digoxin
was withheld. Cardiac catheterization revealed normal
coronary arteries, Grade 3 mitral regurgitation and
coarctation of the aorta with a peak-to-peak systolic
gradient of 60 mmHg, just distal of the left subclavian artery. A one-step surgery for correction of both
pathologies was planned. The patient was monitored with arterial tracings in both radial and femoral arteries under general anesthesia. Simultaneous radial artery pressure was observed as 130/80 mmHg, when femoral artery tracings demonstrated 60/30 mmHg. After aortic and bicaval cannulation, cardiopulmonary bypass was started. The apex was lifted and pericardium was dissected to expose the coarctated segment of the descending aorta. Hypoplastic descending aorta (1 cm in diameter in a 10 cm segment) was seen. The distal end of the coarctation was anastomosed with an 8 mm Dacron graft and this segment was cannulated to perfuse the descending aorta after bleeding control. Following cross-clamping and cardioplegia, mitral valve was evaluated by the left atrial dissection. As mitral valve was degenerated and ineligible for repair, it was replaced with a 31 mm Carbomedics prosthetic valve (CarboMedics Inc., Austin, TX). Then, tricuspid De Vega annuloplasty was performed for functional tricuspid regurgitation and cross-clamp was removed. The proximal end of the graft was anastomosed to ascending aorta with a sided-clamp (Figure 1) and cardiopulmonary bypass was stopped. After the operation, simultaneous blood pressure readings were 110/70 mmHg in radial artery and 100/65 mmHg in femoral artery. Postoperative ankle/brachial index increased from 0.7 to 1. The patient remained asymptomatic and was discharged at the 10th postoperative day. Postoperative control aortography was normal (Figure 2a, b). His functional class was assessed as Class I in his first outpatient follow-up visit. |
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Williams syndrome is characterized with
morphological facial features including curly hair,
wide forehead, periorbital fullness, short nose with a
bulbous tip, long philtrum, wide mouth, full cheeks
and small, spaced teeth.[1] Our case also demonstrated
same morphological characteristics signs since his
toddler age. Cardiovascular system is most frequently (80%) involved in patients with WS. Several published data reported the incidence of SVAS between 38-100%, and PPS between 16-100%. Moreover, MVP is also observed in patients with WS due to alterations in elastin gene.[2] Bruno et al.[3] reported the incidence of MVP as 27% in their series, the third most common anomaly following SVAS (71%) and PPS (38%), and these incidences were more frequent than previous reports. Our patient had severe mitral regurgitation due to MVP. As another important pathology in WS, arteriopathy is a systemic disease caused by alterations of the elastin gene.[2] Coarctation of the aorta and renal artery stenosis apart from SVAS and PPS may also be seen. A thorough review reported stenosis of great arteries in 20% of patients without concomitant CoA.[2] On the contrary, Yau et al.[4] reported CoA in only 6% of cases and no arterial stenosis in other territories. Coarctation of the aorta in adulthood is usually an isolated condition. Surgical options include resection and end-to-end anastomosis, subclavian flap technique, reverse subclavian flap, patch-graft aortoplasty and graft interposition. Any of these techniques may be utilized in one-step or two-step surgeries in stabilized patients either with isolated CoA or co-existing anomalies. However, in patients with unstable cardiovascular condition, as in our patient, a one-step procedure correcting both anomalies may decrease associated morbidity and mortality. Heinemann et al.[5] reported several surgical techniques to repair co-existing cardiac anomalies. Yilik et al.[6] and Bardakci et al.[7] used abdominal aorta as the distal site of anastomosis in a similar case with mitral valve disease and CoA. However, we did not prefer this method due to hypoplastic descending aorta and possible risk of intraperitoneal hemorrhage. In conclusion, in the event of serious hemodynamic derangement in patients with coarctation of the aorta and coexisting cardiac anomalies, one-step surgery seems successful and feasible.
Declaration of conflicting interests
Funding |
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