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Year : 2016  |  Volume : 26  |  Issue : 1  |  Page : 16-18

Large ostium primum interatrial septum defect in asymptomatic elderly patient

Department of Cardiovascular Sciences, Campus Bio-Medico University of Rome, Rome, Italy

Date of Web Publication10-Mar-2016

Correspondence Address:
Giuseppe Di Gioia
Department of Cardiovascular Sciences, Campus Bio-Medico University of Rome, Via Alvaro del Portillo 200, 00128 Rome
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2211-4122.178466

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Ostium primum defect is a congenital malformation involving atrial septum contiguous with atrioventricular valve annulus; it is accompanied by abnormalities in the development of the endocardial cushions, often resulting in associated atrioventricular valves malformations. Few cases have been reported in adulthood because these patients frequently come to medical attention at an earlier age when symptoms such as dyspnea, fatigue, cyanosis, and tendency to underweight occur. Various factors affect the timing of clinical presentation, but the most important is the degree of mitral/tricuspid insufficiency; when valve regurgitation remains moderate, the appearance of symptoms may be delayed for decades. In adult patients, deterioration of clinical status and death are mainly due to the development of arrhythmias or heart block. We present the case of a 67-year-old patient, without previous cardiovascular events, with a new onset of atrial fibrillation, who developed dyspnea and fatigue; echocardiography showed a large interatrial defect localized in the basal portion of the septum, associated with anterior mitral valve cleft and moderate regurgitation. The patient underwent surgical closure of the defect (intraoperatory measures 1,9 × 3 cm) with autologous pericardium patch; a permanent epicardial pacemaker was implanted for the development of complete atrioventricular block in the early postoperative period.

Keywords: Congenital heart disease, echocardiography, mitral cleft, ostium primum

How to cite this article:
Di Gioia G, Mega S, Miglionico M, Di Sciascio G. Large ostium primum interatrial septum defect in asymptomatic elderly patient. J Cardiovasc Echography 2016;26:16-8

How to cite this URL:
Di Gioia G, Mega S, Miglionico M, Di Sciascio G. Large ostium primum interatrial septum defect in asymptomatic elderly patient. J Cardiovasc Echography [serial online] 2016 [cited 2021 Mar 6];26:16-8. Available from: https://www.jcecho.org/text.asp?2016/26/1/16/178466

  Introduction Top

Deficient formation of the embryonic atrioventricular canal by the endocardial cushions produces a spectrum of congenital cardiac malformations. The ostium primum defect combines an atrial septal defect, contiguous with the atrioventricular valve annulus, with a cleft of the mitral valve's anterior leaflet. Interventricular septum appears intact. A few patients with ostium primum atrial septal defects have been reported in adulthood, as these patients frequently require medical attention at an earlier age.[1] We report the case of an adult patient with a recent onset of dyspnoea and decline of general condition, in whom noninvasive and invasive exams clarified the diagnosis of ostium primum defect; surgical closure of the defect was then performed.

  Case Report Top

A 67-year-old male patient (height 165 cm; body weight 88kg), without previous cardiological history, was admitted to our emergency room for paroxysmal nocturnal dyspnea. The patient had reduction of functional capability and dyspnea (New York Heart Association functional class III) in the preceding months. He was on chronic therapy with enalapril for systemic hypertension. Electrocardiogram on admission showed atrial fibrillation with ventricular rate response of 100 beats/min, right bundle branch block and diffuse repolarization abnormalities. Physical examination revealed a 2/6 L holosystolic murmur over the aortic area, a fixed split of the second heartbeat and mild signs of pulmonary congestion. Transthoracic echocardiography showed normal size of the left ventricle, which was hypertrophic and with normal ejection fraction. Color-Doppler evaluation revealed left to right shunt in the basal portion of the interatrial septum without the involvement of the interventricular septum [Figure 1] and moderate mitral valve regurgitation. Right atrium was dilated, right ventricle was hypertrophic and mildly dilated (telediastolic diameter 49 mm) with moderate to severe tricuspid regurgitation. Systolic pulmonary artery pressure was 40mmHg. Chest X-ray showed posterior bilateral pleural effusion, diffuse thickening of the interstitial peribronchial vascular tissue and enlargement of the cardiac shadow. For further evaluation, a transesophageal echocardiography was performed, confirming an atrial septal defect, ostium primum type, with left-to-right shunt [Figure 2]. Mitral valve appeared dysmorphic, fibrocalcific (compatible with a cleft of mitral valve's anterior leaflet) with moderate regurgitation. Subsequently, coronary angiography revealed no coronary artery disease. The patient underwent surgical closure with autologous pericardium patch (intraoperative measurement of the defect was 1,9 × 3 cm, localized in the caudal portion of the septum). During surgery, the patient developed complete atrioventricular block requiring permanent epicardial pacemaker implantation. Postoperative transthoracic echocardiography showed no residual atrial communication, with a slight reduction of the right sections dimensions and mild mitral regurgitation.
Figure 1: Preoperative transthoracic echocardiography: Apical four chambers view showing left to right shunt localized at the basal portion of the inter-atrial septum. Right sections appear dilated and right ventricle hypertrophic. RA = Right atrium, LA = Left atrium

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Figure 2: Preoperative transesophageal echocardiography: On the left, mid-esophageal short axis view focused on interatrial septum showing morphological evaluation of the interatrial communication. On the right, mid-esophageal four chamber view: Color-Doppler evaluation showing left to right shunt. RA = Right atrium, LA = Left atrium, LAA = Left atrium appendage

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  Discussion Top

During the development of the heart, failure of the septum primum to join with the fuses atrioventricular cushions leaves an opening, persistent ostium primum. This defect is usually accompanied by abnormalities in the development of the endocardial cushions resulting in associated malformations of the mitral and tricuspid valves.[2] While ostium secundum atrial septal defect is the most common congenital heart defect in the adults, few cases of ostium primum atrial septal defects have been reported, as patients with such anomaly frequently require medical attention at an earlier age.[1] The estimated mean age at death of the patients with ostium primum septal atrial defect is about 36 years,[3] and long-term survival without surgical therapy is very rare. Since the positive impact of surgery on patient's outcome and prognosis, when suspicion is founded, both clinical cardiologists and echocardiographers should investigate for this uncommon disease in the adult. When ostium primum defect is associated with left atrioventricular valve regurgitation, longevity depends on the degree of valve incompetence; if it remains mild to moderate, the appearance of symptoms may be delayed for decades.[4] Somerville [5] analyzed factors responsible for cardiac death or severe disability in 19patients with ostium primum defect (mean age 28.9 years): Severe mitral regurgitation in 6 patients (with age <30 years), pulmonary hypertension in 2, arrhythmias or heart block in 11 patients. Lipshultz et al.[6] investigated the need for cardiac catheterization and angiography before surgical closure in 33 patients with ostium primum interatrial septum defect. The authors performed a preoperative evaluation in patients (mean age 4, 3 years, range: 2 months to 23 years) with both transthoracic echocardiography and cardiac catheterization and found that two-dimensional and Doppler echocardiographic examination were equal or superior to cardiac catheterization and angiography for the morphologic evaluation of the defect. Our patient underwent coronary angiography because of the age and risk factors (hypertensive, dyslipidemic, and smoker). Given the proximity of his bundle to the lower margin of the primum defect, perioperative heart block is a possible complication of surgery. Lukács et al.[4] evaluated early postoperative complications of surgical closure in 29 patients with ostium primum interatrial septal defect: Complications included supraventricular arrhythmias in 7patients, transient complete heart block in 2 patients (of these, one received permanent pacemaker implantation), and sternal dehiscence in one.

We believe our case report is interesting because of the age of the patient and the late appearance of the symptoms. Gauer et al.[7] reported a case of a 75-year-old man, suffering congestive heart failure for several years, for whom autopsy evaluation showed a partial atrioventricular septal defect of 3 cm. Matsumoto et al.[8] reported the case of a female patient with ostium primum type defect who died for refractory congestive heart failure at 82 years. Our patient was asymptomatic until the age of 67 years, despite the large dimensions of the defect; probably the absence of severe mitral valve regurgitation and of severe pulmonary hypertension allowed him to have a satisfactory hemodynamic status for decades.

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There are no conflicts of interest.

  References Top

Martin CE, Thomas CS Jr., Bender HW Jr. Ostium primum atrial septal defect in the adult. South Med J 1976;69:1058-60.  Back to cited text no. 1
Balchum OJ, Blount SG Jr., Gensini G. The persistent ostium primum atrial septal defect. Circulation 1956;13:499-509.  Back to cited text no. 2
Campbell M. Natural history of atrial septal defect. Br Heart J 1970;32:820-6.  Back to cited text no. 3
Lukács LL, Szántó G, Kassai I, Lengyel MM. Late results after repair of partial atrioventricular septal defect in adolescents and adults. TexHeart Inst J 1992;19:265-9.  Back to cited text no. 4
Somerville J. Ostium primum defect: Factors causing deterioration in the natural history. Br Heart J 1965;27:413-9.  Back to cited text no. 5
Lipshultz SE, Sanders SP, Mayer JE, Colan SD, Lock JE. Are routine preoperative cardiac catheterization and angiography necessary before repair of ostium primum atrial septal defect? J Am Coll Cardiol 1988;11:373-8.  Back to cited text no. 6
Gauer IC, Peters K, Guldner NW, Feller AC. Seventy-five years' survival in partial atrioventricular septal defect. J Heart Valve Dis 2003;12:538-42.  Back to cited text no. 7
Matsumoto Y, Ueda S, Tsukazaki T, Katou Y, Maeda S, Sakai M, et al. An autopsy case of endocardial cushion defect (ECD) in an 82-year-old female. Nihon Ronen Igakkai Zasshi 1992;29:416-22.  Back to cited text no. 8


  [Figure 1], [Figure 2]


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