European Journal of Cardiovascular Medicine

CASE SUMMARY: A 70-year-old male patient with no previously documented comorbidities presented to the outpatient department with a 15-day history of progressively worsening breathlessness (NYHA Grade III), bilateral leg swelling, orthopnea, and a distinctive constellation of right-sided facial swelling and pain. Physical examination revealed mild icterus, finger clubbing, bilateral pitting pedal edema, markedly elevated jugular venous pressure (JVP 10 cm above the sternal angle), and differential facial puffiness more pronounced on the right side — a finding attributable to impaired venous drainage secondary to elevated central venous pressure. Notably, asymmetric upper limb blood pressures were recorded (right arm: 106/88 mmHg; left arm: 90/84 mmHg), with an irregular pulse rate of 123 beats per minute. Cardiovascular examination disclosed a Grade IV systolic murmur at the lower left sternal border, a venous hum both audible and palpable, pectus excavatum, a hyperdynamic apical impulse, and a positive abdominojugular reflex. Abdominal examination demonstrated tender hepatomegaly, consistent with hepatic venous congestion. Electrocardiography demonstrated atrial fibrillation with right bundle branch block — findings classically associated with Ebstein anomaly due to right atrial enlargement and right-sided conduction pathway abnormalities. Chest radiography showed a characteristic "box-shaped" or "wall-to-wall" cardiac silhouette reflecting massive right atrial dilatation. Two-dimensional echocardiography confirmed the diagnosis: grossly dilated right atrium and right ventricle, apical displacement of the tricuspid valve with an atrialized right ventricular segment, impaired right ventricular function, anterior mitral leaflet prolapse, and severe pulmonary arterial hypertension — all consistent with Ebstein anomaly.

Patient Demographics

 Chief Complaints

• Breathlessness — NYHA Grade III — for 15 days
• Bilateral leg swelling (pitting pedal edema) — 15 days
• Orthopnea — 15 days
• Right-sided facial swelling and pain — 15 days

Physical Examination Findings

Investigations

KEY LEARNING POINTS

• Ebstein anomaly can present across the entire age spectrum — from neonates (cyanosis) to adults (arrhythmia, dyspnea) to the elderly (decompensated right heart failure).
• Facial edema and periorbital pain in the context of elevated JVP and right heart failure should prompt consideration of Ebstein anomaly — even in elderly patients without prior cardiac history.
• The combination of RBBB, atrial fibrillation, and a box-shaped cardiac silhouette on CXR in a patient with right heart failure is a classic triad pointing to Ebstein anomaly.
• Onset of atrial fibrillation frequently precipitates acute decompensation in previously compensated Ebstein anomaly.
• Two-dimensional echocardiography with Doppler remains the gold standard for diagnosis, demonstrating apical displacement of the tricuspid valve ≥8 mm/m² BSA from the mitral valve annulus.
• Management in elderly patients is primarily medical; surgical options carry increased perioperative risk and must be individualized.

This case is clinically remarkable on multiple counts. First, the age of presentation at 70 years is extraordinarily rare, with only a handful of similar cases documented in the global literature. Most adults with hemodynamically significant Ebstein anomaly present in the second to fourth decades of life. The absence of symptoms until the seventh decade suggests that this patient harbored a relatively mild morphological variant of the anomaly that remained compensated for decades, likely decompensating with the onset of atrial fibrillation — a known precipitant of acute right heart failure in this condition. Second, the presentation with right-sided facial edema and pain is an unusual and underreported finding that can readily mislead the clinician into considering primary otolaryngological or dental pathology. In this patient, the facial manifestations are best explained by transmission of markedly elevated central venous pressure (CVP) into the internal and external jugular systems, resulting in venous engorgement of the facial and periorbital venous plexuses — a consequence of the giant "v" waves generated by severe tricuspid regurgitation in the context of a massively dilated right atrium. The asymmetry of facial edema (right > left) may reflect anatomical variations in jugular venous drainage or superior vena caval flow dynamics. Importantly, the venous engorgement was also visible and palpable as a venous hum over the neck and right chest wall, a sign of hyperdynamic venous circulation. The differential upper limb blood pressure — higher on the right (106/88 mmHg) than on the left (90/84 mmHg) — is another noteworthy finding in this case, potentially reflecting subtle mediastinal vascular compression from the massively enlarged right heart or differential subclavian arterial flow dynamics. This finding warrants further investigation to exclude concurrent vascular pathology. From a pathophysiological standpoint, the clinical trajectory in this patient illustrates the natural history of Ebstein anomaly. The congenital tricuspid valve displacement causes progressive atrialization of the right ventricle, reducing functional right ventricular volume and impairing forward cardiac output. As the disease advances, compensatory right atrial dilatation occurs, creating a substrate for atrial arrhythmias, including accessory pathway-mediated tachycardias (Wolff-Parkinson-White syndrome occurs in approximately 20-25% of Ebstein patients) and atrial fibrillation — both of which further compromise cardiac output and precipitate right heart failure. Hepatic congestion, ascites, anasarca, and cyanosis may supervene in advanced disease. The coexistence of anterior mitral leaflet prolapse, seen in approximately 20% of Ebstein cases, adds a left-sided valvular dimension to the overall hemodynamic burden. Management of Ebstein anomaly in elderly patients presents unique challenges. Surgical options — including tricuspid valve repair or replacement, closure of interatrial communications, and the cone reconstruction technique — are well-established in younger patients but carry substantially increased perioperative risk in septuagenarians. Medical management, focused on rate control of atrial fibrillation, diuresis, anticoagulation, and optimization of pulmonary hypertension, constitutes the mainstay of treatment in this age group. Cardiac resynchronization therapy and catheter ablation may be considered for arrhythmia management in selected patients.

This case contributes to the sparse literature on Ebstein anomaly presenting in advanced age and highlights several clinically instructive points. Ebstein anomaly can present across the entire human lifespan, from the neonatal period to the eighth decade of life, with the clinical phenotype determined by the severity of tricuspid valve displacement, the degree of atrialization, and the presence of associated cardiac defects. Physicians must maintain awareness of this condition in elderly patients presenting with right heart failure of uncertain etiology, particularly in the presence of characteristic ECG (RBBB, atrial fibrillation) and radiological (box-shaped heart) findings. Furthermore, the rare but pathophysiologically explicable occurrence of facial edema and pain secondary to elevated JVP in Ebstein anomaly deserves recognition as a potential presenting complaint that may otherwise lead to diagnostic delay. Early echocardiographic evaluation remains the cornerstone of diagnosis, and individualized multidisciplinary management is essential to optimize outcomes in this vulnerable population.

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