A 28-year-old female presented at Prof. Dr. IGNG Ngoerah General Hospital with a chief complaint of dyspnea on exertion and bilateral leg swelling, persisting for the preceding three months leading up to her hospital visit. The patient reported no history of chronic illnesses, regular medication usage, or a smoking habit. Upon physical examination, several notable findings were identified, including an elevated jugular venous pressure, a continuous murmur graded as V/VI detected at the lower left sternal border, hepatomegaly, and bilateral leg edema. An electrocardiogram (ECG) displayed sinus tachycardia featuring a right axis deviation, right ventricular hypertrophy, and the presence of ventricular extrasystoles. Subsequently, a chest X-ray unveiled cardiomegaly, encompassing dilatation of all cardiac chambers, in conjunction with heightened pulmonary vascularization. Further evaluation via transthoracic echocardiography (TTE) revealed the dilation of all cardiac chambers, with concurrent preservation of left ventricular systolic function.

Turbulent Doppler flow analysis unveiled the presence of an aneurysmal dilation within the right sinus of Valsalva, projecting into the RV, as depicted in Fig. 1. These findings were subsequently corroborated by transesophageal echocardiography (TEE), which confirmed the presence of a RSoVA extending into the RV. Additionally, TEE raised suspicion of severe pulmonary hypertension, as illustrated in Fig. 2. TEE revealed the presence of a RSoVA characterized by left-to-right shunting. The aneurysm was measured to be 14 mm in diameter and exhibited multiple end holes. Importantly, TEE suggested a high likelihood of severe pulmonary hypertension, while both left and right ventricular functions were noted to be preserved during the assessment.

Transthoracic echocardiography identified a “windsock” appearance on parasternal long axis (PLAX) view. Ao = aorta; RV = right ventricle; LV = left ventricle; RSoVA: ruptured sinus of Valsalva aneurysm

Transoesophageal echocardiography confirmed rupture of the sinus of Valsalva aneurysm on the Right coronary cusps (RCC). A and B Images taken flow from the RCC to the right ventricle on color doppler (arrow). Ao = aorta; RV = Right ventricle; LV = left ventricle; LA = left atrium; L = left; R = right; TV = tricuspid valve; NCC = non-coronary cusp; LCC = left coronary cusp; RCC = right coronary cusp

Preceding the surgical intervention, the patient underwent a comprehensive assessment through right and left heart catheterization procedures. These examinations unveiled the presence of a RSoVA that formed an aorta-to-RV fistula, characterized by multiple end-holes. Importantly, the observed fistula exhibited high flow with low resistance. The pulmonary flow to systemic flow ratio (QP/QS) was determined to be 2.5, and the pulmonary arteriolar resistance index was measured at 1.08 WU m2. The pulmonary arteriolar resistance itself was quantified as 0.01 WU, and the pulmonary vascular resistance (PVR) to systemic vascular resistance (SVR) ratio stood at 0.02. Intriguingly, the imaging studies conducted during these catheterization procedures did not reveal any evidence of a VSD flow, as demonstrated in Fig. 2. The definitive diagnosis for this patient encompasses the presence of a RSoVA forming an aorta-to-RV fistula, characterized by the existence of multiple end holes. In addition, there exists a suspicion of a small VSD, which may be obscured by the prolapsed RCC. This potential coverage of the VSD by the prolapsed RCC shows the absence of a discernible shunt on TTE and TEE during right and left heart catheterization. In light of this diagnosis, the patient was initially scheduled for an urgent surgical intervention, specifically surgical repair of the RSoVA. However, the patient and her family, apprehensive about potential side effects associated with surgical management, opted against proceeding with the recommended surgical procedure. Subsequently, the patient was regrettably lost to follow-up while undergoing oral medication therapy.

A 27-year-old female patient presented at our outpatient clinic, reporting symptoms of dyspnea upon exertion. This patient had a longstanding history of palpitations and exertional dyspnea dating back to her childhood. In her earlier years, the patient received a diagnosis of VSD but did not undergo further medical intervention. Upon physical examination, the patient exhibited hemodynamic stability, with oxygen saturation levels measuring 99% under room air conditions. A continuous murmur of grade V/VI intensity was auscultated along the left sternal border, accompanied by a palpable thrill radiating to the surrounding anatomical region. TTE subsequently revealed the presence of a RSoVA that displayed continuous left-to-right shunting, specifically from the aorta to the RV. Furthermore, TTE identified moderate aortic valve regurgitation, prolapse of the RCC, mild subaortic stenosis, mild tricuspid valve regurgitation, along with an intermediate probability of pulmonary hypertension. Mild mitral valve regurgitation was also noted, in conjunction with left atrial and ventricular dilation. Importantly, both left and right ventricular functions were preserved. Colour Doppler imaging additionally demonstrated continuous wave patterns, indicative of high turbulence occurring during both the systolic and diastolic phases of the left ventricle's cardiac cycle, as illustrated in Fig. 3.

Transthoracic echocardiography presented A a small VSD sub aortic ventricular septal defect with a left-to-right shunting (arrow), viewed from an apical 5 chamber view; B ME PLAX view on transoesophageal echocardiography. Ao = Aorta; RV = Right ventricle; LV = Left ventricle; LA = Left atrium; L = Left; R = Right; RSoVA: Ruptured sinus of Valsalva aneurysm; VSD = Ventricular septal defect; SADC = Sub aterial doubly committed

Additionally, the TEE examination revealed the presence of a small VSD, measuring approximately 4.12 mm in diameter. This VSD was located at the sub arterial doubly committed (SADC) position, exhibiting a left-to-right shunt extending from LV to RV. Notably, the intra-atrial septum appeared to be intact, as depicted in Fig. 4. Furthermore, the examination identified the RSoVA situated within the RCC, with flow directed towards the RV. An eccentric jet resulting from RCC prolapse was responsible for the observed moderate aortic regurgitation, as illustrated in Fig. 5. Consequently, the final diagnosis for this patient encompasses a small VSD with left-to-right shunting, moderate Aortic Regurgitation (AR), mild subaortic stenosis, mild Tricuspid Regurgitation (TR), along with an intermediate probability of pulmonary hypertension. Additionally, mild Mitral Regurgitation (MR) was identified, with both left and right ventricular functions noted as normal. Currently, the patient is scheduled for a right and left heart catheterization procedure. Initially, plans were made for VSD closure through surgical intervention, in combination with surgical repair of the Sinus of Valsalva rupture and aortic valve replacement, all guided by TEE. However, the patient and her family have not yet made a decision regarding surgical intervention, opting instead for oral medication therapy. The prescribed medication regimen includes Ramipril, Bisoprolol, Spironolactone, and Furosemide, with the aim of alleviating symptoms and improving the patient's condition. Regular monthly monitoring of symptoms and echocardiographic examinations is being carried out to assess the patient's progress.

Transoesophageal echocardiography showed A a rupture of the Valsalva aneurysm sinus with multiple end- hole with flow heading towards the RV, coming from the aorta to RV (arrow). B Continuous wave appearance can be seen CW doppler was done. Ao = Aorta; RV = Right ventricle; LV = left ventricle; LA = left atrium; RSoVA = ruptured sinus of Valsalva aneurysm

Transoesophageal echocardiography showed RCC Prolapse caused moderate AR. Ao = aorta; RV = right ventricle; LV = left ventricle; LA = left atrium; RCC = right coronary cusp; L = left; r = Right

A 20-year-old woman has been experiencing progressively worsening dyspnea, classified as New York Heart Association (NYHA) functional class III, and palpitations over the course of the last two years. Her symptoms notably worsened during her second pregnancy, which occurred two years ago. Additionally, the patient frequently encounters angina symptoms during routine activities, often accompanied by pain radiating to her back and episodes of cold sweats. Furthermore, both lower limbs exhibit swelling during strenuous physical activities. There is no medical history of syncope or rheumatic fever in the patient's records. Upon physical examination, the patient presented with stable hemodynamics, with peripheral oxygen saturation measured at 98% while breathing room air. Auscultation of the thorax revealed the presence of a continuous grade V/VI murmur along the left sternal border, accompanied by a palpable thrill that radiated to the surrounding area. These findings indicate the presence of a continuous murmur. The ECG displayed a normal sinus rhythm. TTE provided valuable insights into the patient's cardiac condition. The examination revealed several notable observations, including the dilation of the LA and LV, eccentric hypertrophy of the LV, and normal LV systolic function, with a left ventricular ejection fraction (LVEF) calculated at 66% using the Teichholz method. The assessment also confirmed normal RV contractility, with a tricuspid annular plane systolic excursion (TAPSE) measurement of 33 mm. Other findings included the presence of a tricuspid aortic valve, mild subaortic stenosis with a pressure gradient of 21 mmHg, mild aortic regurgitation accompanied by diastolic flow reversal due to RCC prolapse, mild MR, and mild pulmonary regurgitation (PR) attributed to the prolapsed pulmonary valve. Moreover, a 5 mm VSD was detected, characterized by a left-to-right shunt. To further evaluate the morphology of the aortic and pulmonary valves, TEE was performed as part of the diagnostic process.

During the examination, a small VSD was identified with a measured diameter ranging between 6.9 and 8.9 mm. This VSD was located in the subaortic region and was associated with a left-to-right shunt. The intra-atrial septum exhibited no apparent defects, but multiple end holes were observed (Fig. 6). The Mid-esophageal Long-Axis (MELAX) view provided a clear visualization of a RSoVA situated within the region of the RCC. This RSoVA had a diameter of 1.5 cm and featured multi-fenestrated openings, each measuring between 0.61 and 0.66 cm in diameter. Importantly, these fenestrations directed the flow towards the right ventricle, resulting in a left-to-right shunt (Fig. 7). Additionally, the presence of an eccentric jet and RCC prolapse was noted, contributing to mild AR. Parameters indicative of AR severity included a pressure half-time (PHT) of 409 ms, an effective regurgitant orifice area (ERO) of 0.12 cm2, and a regurgitant volume (RegVol) of 36 ml. Mild subaortic stenosis caused by RCC prolapse was also documented, characterized by an aortic valve maximum velocity (AV Vmax) of 2.35 m/s and a peak gradient (AV Max PG) of 22 mmHg. Furthermore, mild TR was detected, with an intermediate probability of concurrent pulmonary hypertension. Moderate MR was also present. Notably, the examination revealed LA and LV dilatation, yet maintained normal LV systolic function, as demonstrated by a LVEF calculated using the biplane method (BP) at 60.4%. RV function remained within the normal range, with a TAPSE measurement of 32 mm and global normokinetic motion. Based on these findings, the final diagnosis for this patient is Congestive Heart Failure classified as Functional Class II, complicated by adult CHD and a small subaortic VSD featuring a left-to-right shunt from LV to RV. Additionally, the diagnosis encompasses RSoVA with multi-fenestrated left-to-right shunting, mild AR attributable to RCC prolapse, mild PR, and moderate MR. The patient's treatment plan included surgical VSD repair in conjunction with sinus Valsalva rupture repair and aortic valve replacement. To alleviate symptoms, the patient was prescribed an oral medication regimen consisting of Ramipril, Bisoprolol, Nitrate, Spironolactone, and Furosemide. Follow-up appointments were scheduled on a monthly basis to monitor symptom progression and conduct regular echocardiography examinations.

Transoesophageal echocardiography showed rupture of the sinus of Valsalva aneurysm in the RCC region (diameter 1.5 cm) with multi fenestrated (diameter 0.61 to 0.66 cm) towards RV (arrow). Ao = aorta; RV = right ventricle; LV = left ventricle; LA = left atrium; RSoVA = ruptured sinus of Valsalva aneurysm

A Transoesophageal echocardiography showed subaortic VSD left-to-right shunt. B Mild aortic regurgitation due to prolapse of RCC. Ao = aorta; RV = right ventricle; LV = left ventricle; RSoVA = ruptured sinus of Valsalva aneurysm; VSD = Ventricular septal defect