Marva (1998) reported Marfan's syndrome for the first time in a 23-year-old Arab man from Kuwait. The patient presented with unstable bladder, and medical check-up revealed a degree of mental deficiency. Additionally familial incidence of marfanoid and heart abnormalities was detected.

[Marva M. Non-immune hydrops associated with urogenital sinus. Med Princ Pract. 1998; 7(3):226-9.]

Mégarbané et al., 2020 described a patient with overlapping LDS5 and Marfan syndrome features, and a homozygous deletion of the genomic region encompassing exons 2-7 of the TGFB3 gene. Same mutation was identified in the patient’s phenotypically normal parents but in heterozygous state. The novel homozygous variant detected in the patient was predicted to disrupt the TGF-β signalling pathway and indicated an autosomal recessive mode of inheritance previously unreported among patients with TGFB3 variants.

Venugopalan et al. (1997) reported the skeletal, ophthalmic and cardiac features of Marfan's syndrome in a 10-year old Omani boy who was referred to them for cardiac evaluation. He had history of shortness of breath and palpitation while playing, but there was no family history of a similar condition. Examination revealed a long (height on the 75th percentile) and thin (weight on the third percentile) male with skeletal features of Marfan's syndrome which included long thin fingers, arm span of 150 cm (more than height by 6 cm), high arched palate, pectus excavatum, thoracic scoliosis, and hyperextensible joints. His ophthalmic features were bilateral upward displacement of the lens with left retinal detachment. On the other hand, cardiovascular examination revealed high volume and collapsing radial pulse with high pulse pressure, cardiomegaly with forceful cardiac apex, right ventricular hypertrophy as indicated by a grade 2/4 left parasternal heave, normal first and second heart sounds but audible third heart sound over the apex, and a grade 4/6 ejection systolic murmur over the left second and third intercostal spaces with early diastolic murmur. Other systemic examinations were normal, except for a palpable liver of two cm below the costal margin. Investigations revealed a metacarpal index of 10.8, consistent with the diagnosis of Marfan's syndrome. Investigations to evaluate the cardiac lesions confirmed cardiomegaly and showed prominent ascending aorta and aortic arch by chest X-ray. Electrocardiogram revealed left atrium enlargement and left ventricular hypertrophy. This was confirmed by echo Doppler studies, which also revealed aneurysmal dilatation of the aortic root (which appeared as a clover leaf on cross sectional study) and ascending aorta which was compressing on normal pulmonary arteries (maximum aortic diameter was 6.5 cm). The dilatation stopped just proximal to the origin of the right innominate artery with normal aortic arch and descending aorta. Other findings were early systolic partial closure of the aortic valve with paradoxical movement of the posterior aortic wall and severe aortic valve regurgitation (due to non coaptation of its leaflets), dilated proximal coronary arteries of 6mm and 5mm of the left and right arteries, respectively, and thickened and redundant mitral and tricuspid valves leaflets. Homocystinuria was excluded by urinary aminoacidogram. The parents were counseled on the condition and cardiac catheter studies, angiography and surgical correction of the cardiac lesions were advised, but they declined any surgical intervention.

[Venugopalan P, Akinbami FO, Elnour IB. Cardiovascular manifestations of Marfan's syndrome a case report with review of literature. Oman Med J. 1997; 14(2):46-9.]