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Cadiovascular complications of homozygous familial hypercholesterolaemia
Insights
Homozygous familial hypercholesterolaemia causes severe aortic root and valve atheroma in young patients. This condition leads to significant cardiovascular abnormalities and a high mortality rate.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Metabolic Disorders
Background:
- Familial hypercholesterolaemia (FH) is a genetic disorder characterized by high levels of low-density lipoprotein cholesterol.
- Homozygous familial hypercholesterolaemia (HoFH) is a rare, severe form of FH, often presenting in childhood or early adulthood.
- Cardiovascular complications are a major cause of morbidity and mortality in HoFH patients.
Observation:
- Seven young patients (12-25 years) with HoFH were assessed for cardiovascular abnormalities.
- Clinical findings included angina, syncope, ejection systolic murmurs, and loud aortic second sounds.
- Systolic gradients between the left ventricle and aorta were present in most patients.
Findings:
- Angiography revealed characteristic aortic root narrowing in all patients.
- Coronary ostial stenosis was observed in five out of seven patients.
- Severe, premature atheroma of the aortic valve and root was confirmed as a hallmark of HoFH.
Implications:
- HoFH is associated with significant cardiovascular abnormalities, including aortic root and valve disease.
- Early diagnosis and intervention are crucial due to the high mortality risk.
- Plasma exchange may be a beneficial treatment modality for managing HoFH complications.
Abstract:
Seven patients with homozygous familial hypercholesterolaemia, two female and five male, aged 12 to 25 years, underwent clinical and angiographic assessment to define the associated cardiovascular abnormalities. Four patients had angina, two of whom also had syncope on exertion. All had an ejection systolic murmur but no ejection click and a loud aortic second sound. All but one had a systolic gradient between the left ventricle and aorta, ranging from 20 to 80 mmHg at the time of presentation. Angiography showed a characteristic narrowing of the aortic root in all and five of the seven patients had coronary ostial stenosis. One patient died after an aortocoronary bypass and aortic valvotomy and two others underwent aortocoronary bypass and aortic valve replacement, one of whom also died after operation. The survivor and three other patients are now undergoing regular plasma exchange and remain well. The seventh patient died suddenly before the latter form of treatment could be started. These findings confirm that premature, severe atheroma of the aortic valve and root is a characteristic feature of homozygous familial hypercholesterolaemia and carries a high mortality.