Stroke, acute coronary syndrome and muscle hypothrophy as a
consequence of hyperhomocysteinemia

    Authors

    Abstract

    **Introduction**: Hyperhomocysteinemia (Hhcy) is a rare condition, observed in 5% of the general population, more commonly in men. It is mostly caused by a mutation in the MTHFR gene responsible for encoding methylenetetrahydrofolate reductase. Other possible causes include mutations in methionine synthase gene, vitamin B6, B12 or folate deficiency. It may be associated with cardiovascular diseases, renal failure, diabetes mellitus, muscle atrophy, and persistent hypercoagulable state, which can lead to acute coronary syndrome (ACS), acute cerebrovascular events (ACE) and deep venous thrombosis (DVT) (1, 2). **Case report**: We present a case of a young man, 35-years-old, who suffered multiple strokes and transient ischemic attacks, causing right sided hemiparesis and dysphasia. Extensive neurological evaluation showed numerous ischemic lesions. He had dilatated cardiomyopathy (5.8 cm) with mildly decreased left ventricular ejection fraction (50%), frequent episodes of nodal rhythm, bradycardia (3.8 seconds. A permanent VVI pacemaker was implanted. Due to muscular hypotrophy, muscle biopsy was performed, which excluded any known dystrophy. In June 2016 patient was hospitalized with typical stenocardia with normal electrocardiographic (ECG) finding and troponin levels. Coronary angiography has been performed, and coronary artery disease (CAD) has been excluded. In March 2017, due to physical activity patient has had typical stenocardia again. We have found high troponin levels and ST depression in inferoposterior leads on the ECG. Coronary angiography again showed no signs of CAD. Extensive diagnostics were performed in order to see whether the patient suffers from a hereditary hypercoagulable state. Mentioned analysis has showed that patient is homozygous for MTHFR gene and heterozygous 4G/5G PAI-1 gene. Permanent oral anticoagulant therapy as well as vitamin B12 and folate were introduced. **Conclusion**: Hyperhomocysteinemia is a rare condition which can be associated with muscle hypotrophy, as well as hypercoagulable state by which it can lead to ACS and ACE. Therefore, Hhcy should be taken into account in especially in healthy young adults especially because by using therapy, its consequences could be prevented.

    Keywords

    hyperhomocysteinemia, hypercoagulability, acute coronary syndrome

    DOI

    https://doi.org/10.15836/ccar2018.303

    Literature

    1. Maron BA, Loscalzo J. The treatment of hyperhomocysteinemia. Annu Rev Med. 2009;60:39–54. https://doi.org/10.1146/annurev.med.60.041807.123308
    2. Veeranki S, Winchester LJ, Tyagi SC. Hyperhomocysteinemia associated skeletal muscle weakness involves mitochondrial dysfunction and epigenetic modifications. Biochim Biophys Acta. 2015 May;1852(5):732–41. https://doi.org/10.1016/j.bbadis.2015.01.008
    Cardiologia Croatica
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    Stroke, acute coronary syndrome and muscle hypothrophy as a
consequence of hyperhomocysteinemia

    Extended Abstract
    Issue11-12
    Published
    Pages303
    PDF via DOIhttps://doi.org/10.15836/ccar2018.303
    hyperhomocysteinemia
    hypercoagulability
    acute coronary syndrome

    Authors

    Jozica ŠikićORCIDSveučilište u Zagrebu, Medicinski fakultet, Zagreb, Hrvatska
    Ante Pašalić*ORCIDKlinička bolnica „Sveti Duh“, Zagreb, Hrvatska
    Jasna Čerkez HabekORCIDKlinička bolnica „Sveti Duh“, Zagreb, Hrvatska
    Tea FriščićORCIDKlinička bolnica „Sveti Duh“, Zagreb, Hrvatska
    Dario GulinORCIDKlinička bolnica „Sveti Duh“, Zagreb, Hrvatska
    Edvard GalićORCIDSveučilište u Zagrebu, Medicinski fakultet, Zagreb, Hrvatska

    *Correspondence email: ante.pasalic@outlook.com

    Abstract

    **Introduction**: Hyperhomocysteinemia (Hhcy) is a rare condition, observed in 5% of the general population, more commonly in men. It is mostly caused by a mutation in the MTHFR gene responsible for encoding methylenetetrahydrofolate reductase. Other possible causes include mutations in methionine synthase gene, vitamin B6, B12 or folate deficiency. It may be associated with cardiovascular diseases, renal failure, diabetes mellitus, muscle atrophy, and persistent hypercoagulable state, which can lead to acute coronary syndrome (ACS), acute cerebrovascular events (ACE) and deep venous thrombosis (DVT) (1, 2). **Case report**: We present a case of a young man, 35-years-old, who suffered multiple strokes and transient ischemic attacks, causing right sided hemiparesis and dysphasia. Extensive neurological evaluation showed numerous ischemic lesions. He had dilatated cardiomyopathy (5.8 cm) with mildly decreased left ventricular ejection fraction (50%), frequent episodes of nodal rhythm, bradycardia (3.8 seconds. A permanent VVI pacemaker was implanted. Due to muscular hypotrophy, muscle biopsy was performed, which excluded any known dystrophy. In June 2016 patient was hospitalized with typical stenocardia with normal electrocardiographic (ECG) finding and troponin levels. Coronary angiography has been performed, and coronary artery disease (CAD) has been excluded. In March 2017, due to physical activity patient has had typical stenocardia again. We have found high troponin levels and ST depression in inferoposterior leads on the ECG. Coronary angiography again showed no signs of CAD. Extensive diagnostics were performed in order to see whether the patient suffers from a hereditary hypercoagulable state. Mentioned analysis has showed that patient is homozygous for MTHFR gene and heterozygous 4G/5G PAI-1 gene. Permanent oral anticoagulant therapy as well as vitamin B12 and folate were introduced. **Conclusion**: Hyperhomocysteinemia is a rare condition which can be associated with muscle hypotrophy, as well as hypercoagulable state by which it can lead to ACS and ACE. Therefore, Hhcy should be taken into account in especially in healthy young adults especially because by using therapy, its consequences could be prevented.

    Literature

    1. 1.
      Maron BA, Loscalzo J. The treatment of hyperhomocysteinemia. Annu Rev Med. 2009;60:39–54.DOI
    2. 2.
      Veeranki S, Winchester LJ, Tyagi SC. Hyperhomocysteinemia associated skeletal muscle weakness involves mitochondrial dysfunction and epigenetic modifications. Biochim Biophys Acta. 2015 May;1852(5):732–41.DOI