Case Report |
Corresponding author: Atefeh Asadmobini ( a.asadmobini@gmail.com ) © 2022 Feridoun Sabzi, Aghigh Heydari, Reza Heidari Moghaddam, Mohammad Rouzbahani, Atefeh Asadmobini.
This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Citation:
Sabzi F, Heydari A, Heidari Moghaddam R, Rouzbahani M, Asadmobini A (2022) A rare case of Watson syndrome. Folia Medica 64(4): 672-675. https://doi.org/10.3897/folmed.64.e63559
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Watson for the first time reported a case series of children in a family that presented with pulmonary valve stenosis, mental retardation, short stature, and small brown color skin lesions that are known as cafe-au-lait spots. We present a rare new variant of the syndrome in an adult patient with severe pulmonary valve stenosis, main, left, and right pulmonary artery aneurysm, short stature, mental retardation, coronary artery disease, and skin lesions. The patient underwent open cardiac surgery with pulmonary valvotomy and aneurysmorrhaphy of the main pulmonary artery and its right and left branches. The postoperative course was uneventful and the six-month follow-up with transthoracic echocardiography revealed no recurrence of aneurysm of repairing pulmonary arteries and good clinical outcome of the patient. Our patient had a unique characteristic of aneurysm of the main pulmonary artery and its both branches that has rarely been reported previously in the medical literature.
adult, congenital heart disease, neurofibromatosis, Watson syndrome
Genetic disorders are not uncommon in congenital heart defects and a wide variety of genetic related anomalies have been reported in the medical literature. Association of skin and cardiac anomalies that is defined as the cardio-cutaneous syndrome has been reported in a variety of syndromes and one of the rarest types of these is the Watson syndrome. Other common types of this association include Noonan and LEOPARD syndrome.[
A 45-year-old man was admitted to the hospital with unstable chest pain. His medical history revealed the presence of some degree of mental retardation, lower extremities, and skin spots, but evidence of characteristic lesions of neurofibromatosis was not found. Physical examination showed a short stature man with mental retardation and lower extremity skin spot lesions.
Cardiac auscultation exhibited that a systolic murmur was maximum detected in the left third intercostal space. A bulging on the pulmonary trunk area on the chest x-ray (Fig.
Preoperative TEE shows dilated main (4.27 cm) and the right and left (3.2 cm) pulmonary arteries aneurysm. TTE revealed dilated right ventricular size and severe valvular and subvalvular pulmonary artery stenosis.
Dilation of the main pulmonary artery and its left and right branches above the stenotic pulmonary valve.
Dilated main, left, and right pulmonary artery above the stenotic pulmonary valve (black vertical arrow).
Repaired main pulmonary artery (vertical black arrow). Aneurysmorrhaphy with continuous suture line (proline 4/0) continued to pulmonary valve ring. Patch angioplasty of right ventricular outflow tract (transverse black arrow).
Our patient presented with a rare complex of coronary artery disease (CAD), the main and both pulmonary branches aneurysm, congenital pulmonary valve stenosis, mental retardation, and skin brown spot lesion. Our surgical approach includes bypassing his LAD stenosis with a LIMA graft. The patient’s pulmonary stenosis was amenable to repair by commissurotomy and it was repaired with this mechanism. However, in cases with severely calcified or fibrotic valve, valve replacement could be considered with a biologic or homograft mechanism. Watson syndrome, with this complex pathological evidence, is a rare event, and there are no large case studies in the literature. Due to the paucity of reported cases, the natural history of medically treated subjects is unknown, although some exceptional cases of lethal dissection of the pulmonary wall or rupture to surrounding structures have been reported.[
The Watson syndrome is an autosomal dominant condition that is allelic to type 1 neurofibromatosis (NF1). It has been reported that pulmonary stenosis is contiguous to NF1 gene. Although they have the same manifestations, pulmonary stenosis is more common in Watson syndrome. Our patient fit the criteria for the Watson syndrome with detection of clinical findings such as mental retardation, short stature, skin spots, pulmonary valve stenosis and aneurysm, and CAD. However, due to study limitations, we were unable to examine the patient’s genetic structure. DNA studies will be required for further investigation.
Our case report is probably the second description of the surgical approach to pulmonary stenosis, pulmonary artery aneurysm, and coronary disease with this syndrome.
We present a rare, new variant of the Watson syndrome in an adult patient with severe pulmonary valve stenosis, main, left and right pulmonary artery aneurysm, short stature, mental retardation, coronary artery disease and skin spots lesions. Our patient has a unique characteristic of aneurysm that has rarely been reported previously in the medical literature.