Bedside Case Discussion

[Downloaded free from http://www.j-pcs.org on Friday, January 11, 2019, IP: 151.239.87.81]

Curriculum in Cardiology Case Discussion

Bedside Case Discussion Javaid Ahmed, Aseem Basha, Praful Pandey1, Nitin Kumar Parashar, Saurab Gupta Departments of Cardiology and 1Medicine, AIIMS, New Delhi, India

Abstract A young boy presented with cyanosis and shortness of breath since childhood. Clinically, he has a single second sound, a quiet precordium, and no murmurs. Further investigations reveal a ventricular septal defect and Eisenmenger syndrome. The steps of clinical evaluation from history to examination and investigations are discussed. The management given and potential complications and their management are discussed. Keywords: Cyanosis, eisenmenger syndrome, pulmonary hypertension

Presenting Complaint An 18‑year‑old boy, student of a secondary school, resident of Bihar, India, presented to us with: • Bluish discoloration of fingers since 5 years of age (13 years) • Dyspnea on exertion since 10 years of age (8 years). The patient was apparently normal till 5 years of age when his parents started noticing bluish discoloration of his fingertips and toes. It was insidious in onset and gradually progressive in nature. He used to have a bluish discoloration of all the four limbs equalled. There was no history of any increase in cyanosis with excessively crying, exertion, and any episode of increase in cyanosis with labored breathing, fainting, or unconsciousness requiring medical help. The extent of cyanosis did not increase or decrease with changes in climatic temperature, any particular position such as squatting or any other maneuver. The parents also started noticing swelling of the fingertips and toes of all four limbs at about the same age. The swelling was also insidious in onset and gradually progressive in nature. After about 5 years of onset of cyanosis, he started having dyspnea on exertion which was insidious in onset and gradually progressive in nature, with a history of breathlessness on running and climbing two flights of stairs. He started taking medicine for the last 5 years and his dyspnea slightly improved so that he could climb up to three flights of stairs. There was no history of any orthopnea or paroxysmal nocturnal dyspnea, cough, expectoration, fever, seasonal variation in dyspnea severity, chest pain, palpitation swelling in feet, facial puffiness, or abdominal swelling. Access this article online Quick Response Code:

Website: www.j‑pcs.org

There was no other significant history in the past. The child was born in a local hospital by normal vaginal delivery at term. There was a history of delayed cry after birth with meconium aspiration which resolved with treatment. There was neither history of any maternal complication nor any history of any maternal infection. There is no developmental delay in comparison to other siblings. There was no family history of any cardiac disease. The child was a product of nonconsanguineous marriage. He is second of four siblings and all siblings enjoying good health.

Differential Diagnosis Based on History This is a well‑preserved, 18‑year‑old boy, known cyanotic with clubbing for 5 years of age. The possibility is of a cyanotic heart disease, and the possibilities we would keep would include: 1. Tetrology of Fallot 2. Double outlet Right ventricle with Subaortic VSD with Pulmonary stenosis 3. Left‑to‑right shunt (VSD, patent ductus arteriosus, or atrial septal defect [ASD]) with Eisenmenger syndrome (ES) 4. ASD with PS 5. Ebstein’s anomaly. Address for correspondence: Dr. Javaid Ahmed, Department of Cardiology, AIIMS, New Delhi, India. E‑mail: [email protected]

This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution‑NonCommercial‑ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non‑commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. For reprints contact: [email protected]

DOI: 10.4103/jpcs.jpcs_41_18

218

How to cite this article: Ahmed J, Basha A, Pandey P, Parashar NK, Gupta S. Bedside case discussion. J Pract Cardiovasc Sci 2018;4:218-23.

© 2019 Journal of the Practice of Cardiovascular Sciences | Published by Wolters Kluwer - Medknow

[Downloaded free from http://www.j-pcs.org on Friday, January 11, 2019, IP: 151.239.87.81] Ahmed, et al.: Cyanosis presenting in an adolescent boy

Examination On examination, the height of the child was 155 cm, weight 35 kg, and body mass index 15.56 kg/m2. Blood pressure was normal with no significant difference in any of the limbs measuring 108/73 mmHg in right arm, SpO2 was 76% in all four limbs in room air, respiratory rate: 19/min, pulse: 80/min, regular, normal volume, all pulse palpable, jugular venous pulse: not elevated. Cyanosis was present with no significant difference in upper and lower limbs. Cyanosis was present with no significant differences in the UL and LL; clubbing Grade III was found in all four limbs. There was conjunctival plethora. Cardiovascular examination revealed no precordial bulge, no visible pulsations over precordium or epigastric or suprasternal area, no scar marks, and no prominent veins over precordium. The apex was in the fifth intercostal space (ICS) 1‑cm medial to medial collateral ligament, of normal character and localized, with a Grade I parasternal heave, no palpable heart sounds, no palpable P2, and no epigastric/liver pulsation. On percussion, the right heart border corresponded to the right sternal margin, the left heart border corresponded to the apex, the left second prostate‑specific antigen was resonant, and the upper border of liver dullness was in the right sixth ICS. On auscultation, S1 was normal, and S2 was single and loud, with no additional sounds or murmurs. The abdomen was soft and nontender; liver dullness was on the right side. Neurological examination was unremarkable.

Differential Diagnosis after Examination Based on the above history and physical examination, a diagnosis of cyanotic congenital heart disease with decreased pulmonary blood flow was thought of. 1. VSD Eisenmenger 2. TOF.

Other possibilities • •

DORV with VSD with PS Congenitally corrected transposition of the great arteries (CCTGA) with VSD with PS.

The outright presentation of this patient with cyanosis and dyspnea without any history of childhood respiratory tract infections and failure to thrive were pointers toward the cyanotic heart disease without decreased pulmonary blood flow. TOF usually comes to light in neonates and infants; however, when the shunt is balanced or left to right, the initial clinical course may be benign and patients may just have mild, intermittent, or stress‑induced cyanosis. However, patients seldom remain acyanotic after the first few years of life, and by 5–8 years of age, most children are conspicuously cyanotic, with the cyanosis closely coupled to the severity of PS. No

history of any cyanotic spells and late presentation with no PS murmur were against the clinical diagnosis of TOF. The next clinical differential diagnosis in this patient was ES. Patients with ES often have a history of pulmonary congestion during infancy due to the left‑to‑right shunt with increased pulmonary blood flow. With increasing pulmonary vascular resistance, the pulmonary flow declines and pulmonary congestion decreases. The shunt will reverse and the patients become cyanotic with further increase in pulmonary vascular resistance. Typical clinical signs and symptoms of adults with ES are dyspnea on exertion, fatigue, syncope due to low systemic cardiac output, neurologic abnormalities (e.g., headache, dizziness, and visual disturbances) due to secondary erythrocytosis and hyperviscosity, congestive right heart failure, arrhythmias, hemoptysis due to pulmonary infarction, rupture of a dilated pulmonary artery or a thin‑walled pulmonary arteriole, bleeding due to coagulation abnormalities or thrombocytopenia, and cerebrovascular accidents due to hyperviscosity, paradoxical embolism, or cerebral abscess. Physical examination reveals central cyanosis and clubbing. A parasternal lift from the right ventricle is palpable in almost all patients. The left ventricular apical impulse is usually absent due to a posterior displacement. At the upper left sternal border, a prominent main pulmonary artery impulse is present. In our patient, the pointers toward ES were late onset of symptoms, outright cyanosis and clubbing, physical findings of parasternal heave, single loud P2, and absence of any murmurs. Lack of any clinical features of any right‑to‑left shunt in infancy was odd points for ES; however, in developing countries, it is not uncommon to find children presenting for medical care after full‑blown ES. DORV with subaortic VSD with PS closely resembles TOF with similar clinical manifestations. PS, which varies from mild‑to‑severe to atresia, can be present at birth or delayed with a progressive increase in severity. The gentle right ventricular impulse, a systolic thrill felt maximally in the third ICS, an inconspicuous left ventricular impulse, pulmonary stenotic murmur which varies inversely with the severity of cyanosis are the typical findings quite resembling to TOF. When PS is mild, cyanosis coexists with increased pulmonary blood flow. When PS is severe, echocardiography (ECG) finding of counterclockwise initial vectors, namely q‑waves in leads 1 and aVL despite a vertical or rightward QRS axis, is classical of DORV with subaortic VSD with PS. The PR interval tends to be prolonged. Terminal forces are slurred in leads 1, aVL, and avR and in leads V5‑6. A decrescendo systolic murmur persists at the lower left sternal border because of obligatory flow from left ventricle across the VSD into the right ventricular aorta. In our patient, late presentation, absent pulmonary stenotic murmer, and lack of the classical ECG findings were highly unfavorable for the diagnosis of DORV with subaortic VSD with PS. In CCTGA with VSD with PS, PS regulates the left‑to‑right shunt through a VSD. The pulmonary stenotic murmur is maximal at the midleft sternal border because the obstruction

Journal of the Practice of Cardiovascular Sciences ¦ Volume 4 ¦ Issue 3 ¦ September-December 2018

219


is subpulmonary, and the murmur radiates upward and to the right because of the rightward position and course of the pulmonary trunk. A loud second heart sound in the second left ICS is aortic because the aortic root is anterior. In the chest X‑ray, the posterior pulmonary trunk is not border forming even if dilated and the ECG usually shows left‑axis deviation, reverses septal depolarization with absence of q‑waves in the left leads, and varying degrees of atrioventricular conduction abnormalities. In our patient, lack of VSD murmur, single loud S2, and prominent pulmonary trunk in the chest X‑ray [Figure 1] and ECG showing right‑axis deviation were highly atypical for CCTGA with VSD with PS [Figure 2]. With the above history and clinical examination the most likely diagnosis was Eisenmenger syndrome-VSD. The patient underwent two‑dimensional thoracic, which revealed dilated right atrium and right ventricle with subaortic nonrestrictive VSD with bidirectional shunting with severe pulmonary arterial hypertension (PAH) [Figures 3‑6]. The patient was counseled about the course and prognosis of the disease, influenza, and pnemococcal vaccines were given and started on sildenafil 20 mg thrice a day as per the guideline recommendations and scientific data. It was planned to start diuretics if patient worsens symptomatically. Despite absent scientific data and guideline recommendations, many ES patients are still treated with digoxin, standard heart failure medication, and subjected to oral anticoagulation or aspirin treatment. The use of digoxin is concerning as it has been demonstrated in other cardiovascular settings to increase mortality. Other standard heart failure drugs, namely angiotensin‑converting enzyme inhibitors and angiotensin receptor blockers, may not share the problem of increasing mortality in their own right, but they have a hypotensive effect and may preclude the use of disease targeting therapy in adequate doses and especially combination therapy. Therefore, the use of these drugs should be very restrictive in the absence of guideline

Figure 1: Chest X‑ray revealing right ventricular type of apex, prominent pulmonary trunk, peripheral pulmonary pruning, and pulmonary oligemia. 220

recommendations and positive scientific data. The issue of anticoagulation remains controversial. While a recent study found no evidence of a specific survival benefit in congenital pulmonary hypertension patients, current guidelines discourage the routine use of oral anticoagulation in ES patients in the absence of additional indications. Selected patients with large pulmonary thrombi may benefit from this therapy. It is likely, however, that a proportion of patients are given oral anticoagulation based on recommendations extrapolated from – but specifically intended for – patients with idiopathic pulmonary hypertension.

Other issues

The distinguishing features between different shunt lesions with pulmonary hypertension are shown in Tables 1‑3 (adapted from the book "cardiology clinical methods by VJ Jose and S Ramakrishnan, Jaypee Brothers Medical Publishers; First edition 2017"). Management of a patient with Eisenmenger syndrome The management of the patient depends on the age, degree of cyanosis, and polycythemia. There is a risk of syncope, paradoxic embolism, hemoptysis, heart failure, and infective endocarditis. Dehydration should be avoided.[1‑20] • Drugs such as diuretics and digoxin are used for heart failure when manifest • Oxygen therapy may be useful • Infective endocarditis prophylaxis should be carried out • Drugs commonly used include:[21‑41] • Endothelin antagonists (bosentan, ambrisentan, and macitentan) • Phosphodiesterase inhibitors (sildenafil and tadalafil) • Others options such as prostaglandins can be tried. • Anticoagulation: not usually given • Contraception: Female patients • Fetal mortality 25% • Maternal mortality 50% (especially 1st postpartum week). • Erythrocytocis: symptoms of hyperviscousity with visual disturbances, fatigue, headache, dizziness, and paresthesia • Dehydration should be avoided • Phelebotomy should be done to keep Haematocrit of less than 65% in the presence of clinical symptoms of hyperviscosity syndrome.

Figure 2: Electrocardiography showing right‑axis deviation, peaked P‑waves, and Type III right ventricular hypertrophy.

Journal of the Practice of Cardiovascular Sciences ¦ Volume 4 ¦ Issue 3 ¦ September-December 2018


Figure 3: Modified apical five‑chamber view showing a large perimembranous ventricular septal defect (20 mm in size) marked by yellow arrow. RA: Right atrium, LA: Left atrium, LV: Left ventricle, RV: Right ventricle, IVS: Interventricular septum, VSD: Ventricular septal defect.

Figure 4: Parasternal long‑axis view showing ventricular septal defect. (b) Peak gradient as measured with continuous‑wave Doppler across the ventricular septal defect is 6 mmHg which is suggestive of nonrestrictive ventricular septal defect and severe pulmonary artery hypertension. LA: Left atrium.

a

b

Figure 5: Parasternal short‑axis view at the level of aortic valve showing bidirectional flow through ventricular septal defect.

•

Interventions • Creating an ASD with systemic or suprasystemic pressures • Lung or heart–lung transplant (lung transplant with repair of cardiac lesions in simple cardiac lesions else a heart–lung transplant): • Timing of transplant listing: • The New York Heart Association Functional Class III or IV despite a trial of at least • 3 months of combination therapy including prostanoids • Cardiac index of 15 mmHg • 6‑min walk test of