INTRODUCTION: Cardiac abnormalities are frequently encountered in multiple anomaly syndromes.
CASE PRESENTATION: We present the case of a 37 y/o Caucasian female who complained of worsening shortness of breath with exertion for 2 months. Other symptoms included sharp substernal chest pain , cough mildly productive of sputum, orthopnea and a feeling of anxiety. Her past medical history was significant for velocardiofacial syndrome diagnosed in 2000( s/p tonsillectomy and pharyngeal flap procedure) , hypothyroidism, GERD and hypertension. Her family history was significant for a child with VCF diagnosed by FISH . Physical exam showed a short, obese lady in mild respiratory distress. She was tachycardic in the 110’s, had a crowded oral cavity, and poor dentition. Cardiovascular exam revealed a loud holosystolic murmur at the left sternal border, and respiratory exam was significant for bilateral crackles. She had pitting pedal edema in her lower extremities. Labs were remarkable for a BNP of 2849, EKG showed borderline left atrial abnormality. Chest x ray showed bilateral infiltrates in a pulmonary edema pattern. Transthoracic echo showed normal EF, dilated left atrium and right atrium, dilated IVC, severe TR with an RVSP of 96mm Hg and Doppler findings suggestive of pulmonary hypertension. The patient had a right heart catheterization that showed PAP of 50/24, RAP 17, Qp/Qs of 1.80. Oxygen saturations measured out at 44% in the SVC, 51% in the IVC, 65% in the RA and 71% in the RV, suggestive of a step-up at the RA level. Left heart catheterization and coronary angiography showed clean coronaries. On LV angiography, opacification of a sac like structure arising from the ascending aorta, communicating with the right atrium was noted, leading to further opacification of the right sided structures, suggesting a ruptured sinus of valsalva aneurysm. This was further confirmed on TEE. A re-look at the first TTE confirmed that the pressure gradient was indeed between the aorta and the right atrium, and not TR as originally thought. She underwent surgical closure of the aneurysm, with Dacron patch closure on the aortic side, and primary closure on the atrial side. Post-operatively, the patient did extremely well and is now asymptomatic.
DISCUSSION: A sinus of valsalva aneurysm in association with velocardiofacial syndrome (VCFS) has not been previously reported in the English language literature. VCFS is a genetic condition characterized by abnormal pharyngeal arch development, resulting in defective development of the parathyroid glands, thymus, and conotruncal region of the heart. It is one of the most commonly encountered multiple anomaly syndromes. This congenital disorder is caused by a microdeletionat the q11.2 band, which is located on chromosome 22. 90% of these cases are associated with de-novo mutations, 10% cases are inherited in an autosomal dominant manner. Most frequent cardiac abnormalities associated with this disorder include tetralogy of fallot, VSD, truncus arteriosus, TGA and other complex abnormalities. In this patient with previously diagnosed VCFS,it seemed intuitive to rule out structural and congenital cardiac disease as an obvious cause of “pulmonary hypertension”. More importantly, it was a completely curable form of a disease which normally has a deadly course and is associated with an extremely poor quality of life and high morbidity and mortality. Left untreated surgically, the patient could potentially have gone on to progressive right heart failure and death. The other important take home point is echocardiograms are not to be relied upon as a sole means to either diagnose or treat pulmonary hypertension, particularly since they are fraught with inter-observer variability and are highly reader-dependent.
CONCLUSIONS: Evaluation for congenital heart disease is an important part of evaluation for pulmonary hypertension
Reference #1 Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study;JK Ryan, J Med Genet 1997
DISCLOSURE: The following authors have nothing to disclose: Krithika Ramachandran, Bharat Keshavaprasad, Robert Lenox
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