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Familial Giant Right Atrium with Heterogenous Clinical Presentation & Electrocardiographic Features

Sulafa KM Ali, MD; Noha Karadawi, MD; Sara Bushra Eldomi, MD


Idiopathic right atrial dilatation, or Giant Right Atrium (GRA), is a rare congenital anomaly where there is dilation of the RA with severe tricuspid regurgitation, usually associated with arrhythmias.[1,2] We describe familial GRA in two patients with variable clinical features and outcomes.

We describe familial GRA in two patients with variable clinical features and outcomes.

Case 1

An 18-month-old boy presented with facial and lower limb swelling for 2 weeks. He was born to consanguineous parents. The mother’s first pregnancy ended in an intrauterine fetal death.

Family history revealed a sister who had similar complaints in infancy, diagnosed as a cardiac problem, and advised to have operation, but the family did not accept the treatment. The family claimed that this sister is currently doing well at the age of 8- years old.

A physical examination revealed signs of right-sided heart failure with puffiness of the eyes and lower limb edema. There were no signs of respiratory distress or dysmorphic features. The heart rate was 42 beats/minute; other vital signs were normal. The heart sounds were well-heard with a pansystolic murmur at the tricuspid area. The liver was enlarged, 4 cm below the costal margin, with a span of 8 cm.

The child was brought to the hospital for an echocardiographic study, and was give one dose of chloral hydrate for sedation. However, he developed apnea and decreasing heart rate. Resuscitation (with ambo-bagging, cardiac message and one dose of adrenalin) was successful, but the heart rate remained 40-50 beats per minute.

FIGURE 1 Electrocardiogram of Patient 1 showing atrioventricular block with atrial rate of 100 and ventricular rate of 50/minute. Peaked P-wave indicating right atrial enlargement.

Chest X-ray showed cardiomegaly with right ventricle and right atrium enlargement. Electrocardiogram (Figure 1) showed atrioventricular (AV) dissociation (3rd degree AV block) with a ventricular rate of 50 per minute, atrial rate of 100 per minute and right atrial enlargement.

Echocardiogram (echo) showed hugely dilated right atrium measuring 6x5 cm and an area of 19.6 cm2 (Figure 2). Tricuspid valve annulus is dilated to 35 mm with lack of coaptation of the leaflets. No signs of Ebstein’s Anomaly (EA) were found. There is free tricuspid regurgitation (Figure 3). The patient was started on furosemide and spironolactone and referred for permanent pacemaker insertion.

FIGURE 2 Four-chamber echocardiographic view of Patient 1 showing dilated right atrium and tricuspid valve annulus with lack of coaptation of tricuspid leaflets.

Case 2

A 5-year-old girl presented with cardiogenic shock. There was one-month history of shortness of breathing, and no previous history of edema. Her twin sister had a similar history, and was admitted to a peripheral hospital where she died 20 days later.

Physical examination revealed a thin-looking child with no dysmorphic features. She had signs of congestive heart failure, with a heart rate of 150/minute, and respiratory rate of 45/minute. Blood pressure was low, and she was started on dopamine and dobutamin infusions and diuretics. Normal heart sounds were heard with a pansystolic murmur at the left lower sternal border.

During her stay, the doctor on call reported bradycardia of 60 beats per minute for which she was shifted again to the Intensive Care Unit (ICU). However, the episode was transient, and there was no documented ECG. A Holter monitor was done which did not reveal any rhythm disturbance. ECG and Holter revealed sinus rhythm with a huge I-wave (Figure 4).

An echo showed a huge right atrium measuring 5.8 by 6 cm with an area of 19 cm2 (Figure 5). Tricuspid valve annulus was dilated to 40 mm with lack of coaptation and severe tricuspid regurgitation.

In addition, the left ventricle was dilated (5.3 cm), and the ejection fraction was 34%. She was managed with diuretics, and angiotensin converting enzyme inhibitors, and discharged on these medication with some improvement.

To read the full article, please go to the April 2016 Issue of CCT.