Introduction: Marfan syndrome is an autosomal dominant disorder of connective tissue that results from abnormal fibrillin-1. It is caused by a mutation in the FBN1 gene making it a multisystemic disease. It is the most common but may have overlap with other thoracic aortic syndromes. It is primarily diagnosed using the 2010 revised Ghent nosology criteria that rely on the presence of family history, progressive aortic root dilatation or dissection, ectopia lentis, genetic testing, and systemic features. Unfortunately, a lack of nationwide awareness, family history, and medical access may lead to delayed diagnosis and treatment in our setting.

Case Summary: We report 4 cases of Marfan Syndrome from May to October 2019, which were seen at our institution. They presented with either recently diagnosed aortic aneurysm, dissection, or severe heart failure. We used the Revised Ghent Nosology for diagnosis and treated them with the standard of care. However, outcomes were different across patients.

Discussion: The life expectancy is comparable to the general population If early diagnosis is achieved. A myriad of known cardiovascular complications can manifest from severe valvular heart disease secondary to mitral valve prolapse, aortic root dilatation, and, most commonly, aortic dissection.

Conclusion: A late diagnosis presenting as aortic dissection or severe valvular heart disease may have a poor quality of life and prognosis. A thoracic aortic syndrome, most commonly Marfan, should still be considered in patients with aortic criterion and premature aortic syndrome even if a systemic score of 7 is not fulfilled. The screening of first-degree relatives of affected patients is an effective strategy to diagnose them at an early stage where they are still asymptomatic.

Marfan Case Series ; Premature Aortic Disease ; Thoracic Aortic Syndromes

Adult ; Aneurysm, Dissecting ; complications ; Aortic Aneurysm, Thoracic ; complications ; Compartment Syndromes ; complications ; Humans ; Male

Aortic regurgitation is not a rare complication of Takayasu's disease. Aortic regurgitation may aggravate cerebral ischemic syndrome like syncope in patients with stenotic or occlusive lesions in cerebral branches of aorta secondary to acute or progressive inflammation. In a 34-yrs-old male patient who complained of syncope and exertional dyspnea with occlusion of both carotid arteries and severe stenoses of both subclavian arteries, occlusion of right coronary artery, and aortic regurgitation, his symptom was improved with perioperative aggressive steroid therapy, stent insertion in both subclavian arteries, and aortic valve replacement.
Aorta ; Aorta, Thoracic* ; Aortic Arch Syndromes* ; Aortic Valve Insufficiency ; Aortic Valve* ; Carotid Arteries ; Constriction, Pathologic ; Coronary Vessels ; Dyspnea ; Humans ; Immunosuppression ; Inflammation ; Male ; Stents ; Subclavian Artery ; Syncope ; Takayasu Arteritis*

PHACE association is a rare neurocutaneous condition in which facial hemangiomas associate with a spectrum of posterior fossa malformations, arterial cerebrovascular anomalies, cardiovascular anomalies, and eye anomalies. We reported a case of PHACE association in a premature infant showing facial, intracranial, and oropharyngeal hemangiomas with evidence of the Dandy-Walker variant and complicated cardiovascular anomalies, including a right-sided aortic arch and an atypical patent ductus arteriosus arising from a tortuous left subclavian artery. To our knowledge, intracranial hemangiomas are rare in PHACE association, and a concomitant oropharyngeal hemangioma has not been previously reported in the PHACE association literature. In infants presenting with large, plaque-like facial hemangiomas, it is important to conduct active cardiovascular and neurological evaluations. Special attention should be given to the laryngoscopic examination to search for additional hemangiomas in the airway.
Aorta, Thoracic ; Aortic Coarctation ; Ductus Arteriosus, Patent ; Eye ; Eye Abnormalities ; Hemangioma ; Hemangioma, Cavernous, Central Nervous System ; Humans ; Infant ; Infant, Newborn ; Infant, Premature ; Neurocutaneous Syndromes ; Subclavian Artery

The purpose of this study was to evaluate the value of multi-detector computed tomography (MDCT) angiography for the diagnosis of congenital aortic arch anomalies and present the radiological images of congenital aortic arch anomalies in Chinese children. MDCT angiography and transthoracic echocardiography (TTE) were applied for the diagnosis of congenital aortic arch anomalies in 362 Chinese children between May 2006 and December 2011 (age ranges from 5 days to 12 years; mean age, 3.3 years). Surgery and/or catheter angiography (CA) were conducted in all patients to confirm the final diagnosis. In the 362 Chinese children with congenital heart anomalies, congenital aortic arch anomalies were definitely diagnosed in 198 children and 164 children ruled out by operation and/or (CA). Among the 198 children with anomalies, coarctation of aorta (CoA), interruption of aortic arch (IAA), right aortic arch, aberrant right subclavian artery and double aortic arch were diagnosed in 134, 32, 20, 10 and 2 children respectively, and there were 6 cases with uncommon congenital aortic arch anomalies: 2 had double aortic arch including 1 with five branches of the aortic arch, 2 had isolation of the right subclavian artery with two patent ductus arteriosus (PDA), 1 had an isolation of the common carotid artery with a PDA, and 1 had double PDA with a single ventricle and pulmonary artery atresia. Among the 32 children with IAA, 28 were of type A, and 4 were of type B. The diagnostic sensitivity, specificity and accuracy of MDCT angiography for congenital aortic arch anomalies were 100% (198/198), 98% (161/164) and 99% (359/362), respectively. The diagnostic sensitivity, specificity and accuracy of TTE were 92% (182/198), 81% (133/164) and 87% (315/362), respectively. In conclusion, MDCT angiography is a reliable, noninvasive imaging technique for the diagnosis of congenital aortic arch anomalies in children. Sometimes, even more information can be obtained from this technique than from conventional angiography.
Abnormalities, Multiple ; diagnostic imaging ; Aorta, Thoracic ; abnormalities ; diagnostic imaging ; Aortic Arch Syndromes ; diagnostic imaging ; Aortography ; methods ; Child ; Child, Preschool ; China ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Multidetector Computed Tomography ; methods ; Reproducibility of Results ; Sensitivity and Specificity ; Tomography, X-Ray Computed ; methods

OBJECTIVETo evaluate one-stage arterial Switch operation for transposition of the great arteries (TGA) and Taussig-Bing with aortic arch obstruction.

METHODSFrom January 2001 to June 2004, 8 patients had aortic arch obstruction, 3 with TGA and 5 with Taussig-Bing. Except one patient was 8 months old, all of others were 5 days to 3 months old, the mean operation age was (40 +/- 36) d and the mean weight was (4.3 +/- 0.5) kg. All patients were repaired by one-stage operation. The aortic arch obstruction was repaired in deep hypothermia circulatory arrest, and arterial switch procedure was performed in deep hypothermia and low flow perfusion.

RESULTSThere had 1 death who was 8 months old and had low cardiac output, complete artrioventricular block (AVB) and severe pulmonary hypertension postoperation. One patient was 3 months old who had asphyxia at 5 days postoperatively. Six patients followed up from 5 months to 2 years. One Taussig-Bing with interrupted aortic arch had residual obstruction at the anastomosis of aorta. Two had trivial aortic valve regurgitation, and one had mild pulmonary valve regurgitation.

CONCLUSIONSOne-stage repair for TGA and Taussig-Bing with aortic obstruction achieves excellent results. The reasons for the death were pulmonary hypertension and abnormal coronary artery. The operative procedure should be performed as early as possible for the better result.

Aorta, Thoracic ; surgery ; Aortic Arch Syndromes ; complications ; surgery ; Cardiopulmonary Bypass ; Cardiovascular Surgical Procedures ; methods ; Double Outlet Right Ventricle ; complications ; surgery ; Female ; Follow-Up Studies ; Humans ; Infant ; Infant, Newborn ; Male ; Transposition of Great Vessels ; complications ; surgery ; Treatment Outcome