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Vasospastic angina in patients with systemic triglyceride storage disease with Jordans' anomaly and cardiomyopathy
1Research Institute of Angiocardiology, Kyushu University, Fukuoka, Japan.
Insights
This study reports a case of vasospastic angina and cardiomyopathy in a patient with systemic triglyceride storage disease. These findings highlight a potential link between this rare genetic disorder and cardiovascular complications.
Area of Science:
- Cardiology
- Genetics
- Metabolic Diseases
Background:
- Systemic triglyceride storage disease with Jordans' anomaly is a rare genetic disorder.
- Cardiomyopathy and vasospastic angina are serious cardiovascular conditions.
Observation:
- A 54-year-old male patient with systemic triglyceride storage disease presented with chest pain and ECG changes consistent with vasospastic angina.
- Coronary angiography revealed severe vasoconstriction, and endomyocardial biopsy showed triglyceride droplet accumulation in cardiomyocytes.
Findings:
- The patient exhibited symptoms of vasospastic angina, including rest and effort chest pain.
- Impaired left ventricular contraction was observed, potentially due to myocardial cell changes from triglyceride deposits.
- A similar presentation in his sister suggests a familial predisposition.
Implications:
- This case suggests a potential association between systemic triglyceride storage disease and the development of vasospastic angina and cardiomyopathy.
- Further research is needed to elucidate the causal relationship between this genetic disorder and cardiovascular manifestations.
- Understanding this link may inform diagnostic and therapeutic strategies for patients with rare metabolic diseases.
Abstract:
Vasospastic angina was demonstrated clinically and angiographically in a 54-year-old patient with systemic triglyceride storage disease and cardiomyopathy. He and his younger sister had been diagnosed in 1985 as having systemic triglyceride storage with Jordans' anomaly. In 1993, he began complaining of rest and effort chest pain in the morning, which was accompanied by ST depression by ECG. Sublingual nitroglycerine was effective for treating this pain. Intracoronary injection of acetylcholine induced severe coronary vasoconstriction in the left anterior descending artery. Left ventricular contraction was diffusely impaired. Deposits of numerous triglyceride droplets and a decrease in the density of myofibrils in cardiocytes were found in the specimens obtained by endomyocardial biopsy. The impaired left ventricular contraction may have been due to the changes in myocardial cells. His sister complained of a similar chest pain that was completely controlled by calcium channel antagonis. Thus, our cases demonstrated vasospastic angina associated with cardiomyopathy secondary to systemic triglyceride storage disease with Jordans' anomaly, though the causal relationship between these conditions remains unclear.