Download Atrial Septal Defect Coexistent with Sjögren`s Syndrome

CASE REPORT
Atrial Septal Defect Coexistent with Sjögren's Syndrome
Farook Ahmad, Muhammad Athar Sadiq, Kok Han Chee, Ahmad Syadi Mahmood Zuhdi
and Wan Azman Wan Ahmad
ABSTRACT
Pulmonary hypertension is frequently associated with atrial septal defect and various connective tissue disorders. This
case describes a 74-year-old woman who presented with symptoms of heart failure and concomitant involvement of
salivary glands and keratoconjunctivitis. An echocardiogram demonstrated ostium secundum atrial septal defect with left
to right shunt and severe pulmonary hypertension. Laboratory investigations confirmed the diagnosis of Sjögren's
syndrome (SS) with positive anti-nuclear factor and centromere SS-A/Ro pattern. Anti-Ro (SS-A) was found positive. Atrial
septal defect was closed through transcatheter route with significant improvement in clinical outcome. This case report
suggests a possible association of atrial septal defect with primary Sjögren's syndrome in an adult patient.
Key Words: Pulmonary hypertension. Ostium secundum atrial septal defect. Sjögren's syndrome.
INTRODUCTION
The ostium secundum atrial septal defect is the most
common type of atrial septal defect, accounting for 75%
of all ASD cases, representing approximately 7% of all
congenital cardiac defects and 30 - 40% of all congenital
heart disease in patients older than 40 years.1 Sjögren's
syndrome (SS), meanwhile, is a chronic systemic
autoimmune disease characterized by lymphocyte
infiltrates to exocrine glands. There is strong female
predominance with 9 out of 10 patients being female.2
Echocardiographic abnormalities of valvular regurgitations, pericardial effusion, pulmonary hypertension
and increased left ventricular mass index have been
reported to be significantly higher in primary SS
patients.3 Atrial septal defect has been reported
with Sjögren's syndrome as a part of polyendocrine
syndrome type-II.4
We herein describe the occurrence of atrial septal defect
(ASD) with SS without polyendocrine syndrome. The
ASD was successfully closed through transcatheter
route using an occluder device.
CASE REPORT
A 74-year-old lady with past medical history of childhood
asthma and completely treated endometrial cancer was
admitted complaining of worsening dyspnea for 2 days
prior to admission. She had cough with whitish sputum,
orthopnea, paroxysmal nocturnal dyspnea and bilateral
lower limb swelling for the past 2 months. Upon
Department of Medicine, University Malaya Medical Centre,
50603, Kuala Lumpur, Malaysia.
Correspondence: Dr. Muhammad Athar Sadiq, Senior Lecturer,
Division of Cardiology, Department of Medicine, University
Malaya Medical Centre, 50603, Kuala Lumpur, Malaysia.
E-mail: [email protected]
Received: September 26, 2012; Accepted: May 22, 2013.
admission, she appeared quite ill and was unable to
converse in full sentence. On clinical examination, her
blood pressure was measured at 158/96 mmHg with
pulse rate at 108/minute and O2 saturation of 95% at
room air. Her jugular vein was distended and remarkable bilateral peripheral pitting, up to knees, noted.
Auscultation revealed ejection systolic murmur of gradeIII/VI in the left parasternal area with narrow splitting of
second heart sound. There were bibasal crackles and
generalized ronchi in both lung fields. There was no
focal neurological deficit.
Arterial blood gas concluded a pH of 7.311, pCO2 of
96 mmHg, pO2 of 78 mmHg and HCO3- of 28.3 mmol/L.
Urine analysis and blood cell counts were otherwise
normal on investigation. Rheumatoid factor was
elevated at 377 IU/mL with anti nuclear factor positive by
1:640 by the titre with a speckle, centromer SS-A/Ro
pattern present. Anti-Ro (SS-A) was found positive. Creactive protein, complement 3 and 4 levels, protein C
and protein S and antithrombin-III activities were within
normal limits. A detailed history revealed that patient
started to have symptoms of SS 3 years before current
hospitalization but did not seek any medical advice.
Although her rheumatoid factor was positive, clinically
she did not have any sign and symptoms of rheumatoid
arthritis (RA) and was not on any medications,
suggesting its elevation as a part of SS.
Chest X-ray demonstrated cardiomegaly and dilated
pulmonary arteries bilaterally with pruning of the
peripheral branches. The right costophrenic angle was
found to be blunted in keeping with mild effusion and the
left costophrenic angle was obliterated. The features
described were diagnostic of pulmonary arterial
hypertension. A 12-lead ECG showed P pulmonale and
right ventricular hypertrophy. A secundum type atrial
septal defect was demonstrated by transthoracic echocardiogram with enlargement of right sided chambers
and pulmonary artery systolic pressure of 89 mmHg. A
Journal of the College of Physicians and Surgeons Pakistan 2014, Vol. 24 (6): 441-443
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Farook Ahmad, Muhammad Athar Sadiq, Kok Han Chee, Ahmad Syadi Mahmood Zuhdi and Wan Azman Wan Ahmad
adulthood.1 In addition, ASD has been reported with
several genetic syndromes, most often in association
with trisomy 21(Down syndrome).5
In this patient, ostium secundum type ASD with left to
right shunt and pulmonary hypertension was diagnosed
as all the clinical and investigation findings were
conclusive. Although there are frequent reports of
pulmonary hypertension associated with connective
tissue disorders, it has rarely been reported with SS.6,7
Inoue et al. has reported the occurrence of pulmonary
hypertension secondary to SS and rheumatoid arthritis
with resultant right to left shunting through the patent
foramen ovale.8
Figure 1: Atrial septal defect in a Sjögren's syndrome and rheumatoid
arthritis patient. Transesophageal echocardiogram at mid esophagus bicaval
view showing secudum atrial septal defect (A) which was successfully closed
through transcatheter approach using 28 mm occluded device (arrow).
LA = Left atrium; RA = Right atrium; ASD = Atrial septal defect.
pre-transcatheter ASD closure with transesophageal
echocardiogram (TEE) at bicaval view measured ASD of
2.2 cm with the shunting of the blood from left-to-right.
We treated her with diuretics and 2 weeks later she
underwent transcatheter closure with an ASD occluder
device (Figure 1). A significant reduction in pulmonary
artery systolic pressure (PASP), by 13 mmHg, was
observed in the immediate post closure period. No
immediate or 30 day's procedure related complication
was observed. At one month's echocardiographic followup, PASP was measured to be 40 mmHg with no
shunting of flow through the ASD closure device. She
had marked improvement in effort tolerance and
dyspnoea with NYHA class-I. However, there was an
increase in PASP to 50 mmHg at 6 months follow-up
echocardiogram which also revealed development of
mild pericardial effusion.
DISCUSSION
In this report, a rare case of primary SS with atrial septal
defect is presented. SS is a systemic chronic inflammatory disorder characterized by lymphocytic infiltrates
in exocrine organs.3 Most individuals with SS present
with sicca symptoms, such as xerophthalmia (dry eyes),
xerostomia (dry mouth), and parotid gland enlargement.
In addition, numerous extraglandular features may
develop, such as arthralgia, arthritis, Raynaud phenomenon, myalgia, pulmonary disease and gastrointestinal disease. ASDs, meanwhile, account for 30 - 40%
of congenital heart defects that are diagnosed in
442
The pathogenesis of pulmonary hypertension seen in
SS is yet to be fully established. Nakagawa et al. and
Sato et al. performed histopathological studies in their
patients of SS with pulmonary hypertension and
suggested that an endothelial injury associated with
deposition of immune complexes; reversibility of
pulmonary hypertension with corticosteroids may
suggest that an immunological disorder is related to the
mechanism of pulmonary hypertension in SS.6,7
In this patient, SS appeared to have a contributing factor
in the development of pulmonary hypertension. A
significant decrease in PASP was observed in the
immediate and one month post-ASD closure period.
However, at 6 month's follow-up, an increase in PASP
was observed despite successful closure of ASD.
Patient also developed mild pericardial effusion which is
the most reported cardiac finding in SS.9
The association of ASD with Sjögren's syndrome has
been reported only once in an adult patient with
autoimmune polyendocrine syndrome.4 However, exact
explanation of the association of ASD with autoimmune
polyendocrine syndrome was not found. Recently,
Buyon et al. proposed the possible mechanism of
association of ASD in primary SS in infants.10 According
to them, intracellular SSA/Ro antigens are translocated
to the cell surface secondary to physiologic apoptosis of
cardiocytes. This enable circulating antibodies, most
commonly IgG, to bind to the antigen. Opsonized apoptotic cardiocytes are then phagocytosed by macrophages causing release of inflammatory cytokines
favouring the differentiation of fibroblasts into myofibroblasts that promote irreversible scarring. This is evident
from the severe fibrosis found at the atrial wall. Due to
prolonged physiologic stress and myogenic muscular
action of the heart, septal defect formation is inevitable.
Cardiac apoptosis in adult heart has been previously
documented.11 However, this observation is seen only in
patients who have suffered acute myocardial infarct,
reperfusion injury and ischemic dilated cardiomyopathy.11 In this patient, SS was primary and patient
started to have symptoms of SS 3 years before she
developed the symptoms of heart failure. While the
Journal of the College of Physicians and Surgeons Pakistan 2014, Vol. 24 (6): 441-443
Atrial septal defect coexistent with Sjögren's syndrome
mechanism of development of ASD, proposed by Buyon
et al.10 in infants with primary SS may have merits but its
relevancy in adult patients of ASD with primary SS is
unknown. Unfortunately, there have been no previous
reports citing the association of ASD with primary SS
without polyendocrine syndrome. Therefore, in this
interesting and unusual case, we suggest a possible
association of ASD with primary SS. However, the
published data on concrete association of ASD with
primary SS in adults is lacking.
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