Accelerated coronary atherosclerosis and H syndrome.

A 12-year-old boy with insulin dependent diabetes mellitus, presented with acute myocardial infarction. Intracoronary thrombolysis with urokinase restored TIMI III flow in the culprit vessel. After stabilisation with medical therapy, unusual clinical findings in the form of cutaneous hyperpigmentation and hypertrichosis, affecting the lower extremities, were appreciated. These and other phenotypic features were consistent with H syndrome, a recently described autosomal recessive genodermatosis, and confirmed by mutation analysis. Despite being on optimal medical therapy for coronary artery disease, the patient presented 3 months thereafter, with unstable angina which was successfully managed with percutaneous coronary intervention. An unusual occurrence of coronary artery disease with accelerated atherosclerosis in a child with H syndrome is presented herein. Identification of further patients with this novel disorder will clarify the possible association, suggested here, with increased risk for coronary or other vascular events.

Removal of broken balloon mitral valvotomy coiled guidewire from giant left atrium using indigenous snare.

Balloon mitral valvotomy (BMV) is a safe and effective therapy for rheumatic mitral stenosis. During the procedure, the coiled portion of 0.025 in. stainless steel BMV guidewire broke off within the giant left atrium (LA). Attempts to retrieve the guidewire with various snares failed as it was moving freely within the voluminous LA. We describe a technique wherein the broken guidewire was retrieved with a snare made of 0.014 in. percutaneous transluminal coronary angioplasty guidewire. The mechanism and prevention of this complication and management options are discussed.

Novel transcatheter closure of internal iliac arteriovenous malformation.

Arteriovenous malformations arising from iliac arteries are rare anomalies. Percutaneous embolization of such malformations is an established therapeutic option. In this paper, we will describe a case, wherein the internal iliac artery feeding a giant arteriovenous fistula was closed using a patent ductus arteriosus (PDA) duct occluder percutaneously. The PDA duct occluder is a versatile device that can be used as an alternative to vascular plugs.

A clinically masked normotensive aortic coarctation.

A rare variety of aortic coarctation in which both the left subclavian and aberrant right subclavian arteries arose at the coarcted segment is described. Clinically this case was misleading since pulse volume and the blood pressure in all four limbs were equal and chest radiograph was lacking classical features of coarctation of aorta. Multi slice CT aortogram typically demonstrated the relationship of major aortic arch branches. Later he underwent balloon coarctoplasty and stenting with success. The literature relating to unusual coarctation is reviewed in brief

Spontaneous asymptomatic coronary artery dissection in a young man.

Spontaneous coronary artery dissection (SCAD) is a rare condition that most often presents as acute coronary syndrome or sudden cardiac death. Here we present the case of a young man of 25 years, who had remained asymptomatic in spite of SCAD. This case highlights the fact that spontaneous dissections can occur at a young age and can involve more than one coronary artery, without producing clinical symptoms.

The challenge produced by familial homozygous hypercholesterolemia when treating premature coronary arterial disease in the young.

BACKGROUND: Familial hypercholesterolemia is a monogenic, autosomal dominant disorder caused by mutations in the LDL receptor gene. Familial homozygous hypercholesterolemia results when both the alleles have the defective mutation. It is characterized by cutaneous and tendinous xanthomas, premature corneal arcing, and is associated with an increased risk of coronary arterial disease. It is also seriously underdiagnosed, resulting in delayed treatment. METHODS: We present a cross-sectional study of 5 patients with familial homozygous hypercholesterolemia who presented to the department of cardiology at Sri Jayadeva Institute of Cardiology, Bangalore, India. All of them underwent coronary angiography as part of the investigation of their angina. RESULTS: All 5 patients were in 2nd or 3rd decade of life, 4 being male, and 4 presenting with effort angina, the other having unstable angina. All had multiple tendinous xanthomas. The majority had significant high grade coronary arterial stenosis. Coronary arterial bypass grafting was necessary in 3, with the others undergoing percutaneous insertion of coronary arterial stents. CONCLUSION: Familial homozygous hypercholesterolemia is a potentially dangerous risk factor that can result in premature coronary arterial disease in children and young adults. This can result in severe morbidity and premature death in young individuals. We also emphasise the need to screen first-degree relatives and extended family members, this playing an important role in early detection and treatment. Despite recent advances in treatment using lipid lowering agents, the disease remains a significant challenge.