Cardiol Res

Cardiology Research, ISSN 1923-2829 print, 1923-2837 online, Open Access

Article copyright, the authors; Journal compilation copyright, Cardiol Res and Elmer Press Inc

Journal website https://www.cardiologyres.org

Original Article

Volume 4, Number 3, June 2013, pages 109-115

Congenital Thrombophilia and Intracardiac Thrombosis: Probably an Underdiagnosed Event

**Table 1.** Intracardiac Thrombosis Seen in Patients With Antithrombin, Heparin Cofactor II, Protein C and Protein S Deficiencies
Authors	Defect	Age, gender	Site of thrombosis	Associated risk factors	Therapy; evolution	Genotype	Comments
AT, antithrombin; LV, left ventricle; UH, unfractioned heparin; Het, heterozygous; LA, left atrium; AF, atrial fibrillation; LMWH, low molecular weight heparin; RV, right ventricle; DVT, deep vein thrombosis; PE, pulmonary embolism; TV, tricuspid valve; Hom, homozygous; RA, right atrium; AV, aortic valve; ASA, acetyl salicylic acid; MI, myocardial infarction.
Gonzales – Levin (1984)	AT	55, M	Aortic porcine prothesis	LV failure	Replacement of prosthesis, UH, warfarin; fair	Het
Santangeli et al (2008)	AT	47, F	LA	AF, diabetes type II, hypertension, high cholesterol	LMWH, warfarin, beta-blockers, statins; good	Het	Thrombus discovered 1 day after surgery for tibial fracture
Nagael et al (1990)	Hep co-factor II	14, F	RV	DVT	Surgery, streptokinase; fair	Het	Recurrence after 2 months with PE
Ozkutlu et al (1993)	Protein C	4, F	TV	None	Surgery; good	Hom	Father had also protein C deficiency
Letts R et al (1999)	Protein C	11, M	RA and DVT	Septic arthritis	Antibiotics, UH, warfarin; good	Het
Nair et al (2001)	Protein C	43, M	LV	None	Surgery; good	Probably Het	Previous recurrent DV and PE
Matitian et al (2001)	Protein C	2, F	LV	None	Surgery, warfarin; good	Het	Brother with protein C deficiency but no cardiac thrombus
Saleh (2002)	Protein C	17, M	RA and LA	None	UH, warfarin; good	Het
Keyikoioglu et al (2005)	Protein C	35, M	RV and TV	None	Lysis; good	Het
Shindo et al (2006)	Protein C	30, M	AV	None	Surgery; good	Het	Non-coronary cusp was involved
Dogan et al (2006)	Protein C	42, F	RA and RV	Oral contraceptives	Surgery, discontinuation of oral contraceptives, ASA; good	Het
Yokoyama et al (2009)	Protein C	76, M	AV	Old age	Surgery; good	Het
Urgesi et al (2010)	Protein C	38, F	RV	Ulcerative colitis	LMWH; good	Het	PE also present
Girolami et al (1994)	Protein S	31, M	RA	None	UH, warfarin; fair	Het	Had peripheral embolism
Jobic et al (1999)	Protein S	77, F	AV	Old age	Surgery; good	Het	Thrombosis caused repeated embolic MI
Flora et al (2004)	Protein S	28, F	RV	Weak lupus anticoagulant	n.r.	n.r.
Maldjian et al (2006)	Protein S	39, F	RA	None	Poor	Het	Patient had also PE with residual pulmonary hypertension
Aysemur et al (2007)	Combined Prot C and Prot S	3, F	RV and LV	None	UH, warfarin; good	Compound het	Brother also affected but without cardiac thrombosis

Table 1. Intracardiac Thrombosis Seen in Patients With Antithrombin, Heparin Cofactor II, Protein C and Protein S Deficiencies

Authors

Defect

Age, gender

Site of thrombosis

Associated risk factors

Therapy; evolution

Genotype

Comments

AT, antithrombin; LV, left ventricle; UH, unfractioned heparin; Het, heterozygous; LA, left atrium; AF, atrial fibrillation; LMWH, low molecular weight heparin; RV, right ventricle; DVT, deep vein thrombosis; PE, pulmonary embolism; TV, tricuspid valve; Hom, homozygous; RA, right atrium; AV, aortic valve; ASA, acetyl salicylic acid; MI, myocardial infarction.

Gonzales – Levin (1984)

55, M

Aortic porcine prothesis

LV failure

Replacement of prosthesis, UH, warfarin; fair

Het

Santangeli et al (2008)

47, F

AF, diabetes type II, hypertension, high cholesterol

LMWH, warfarin, beta-blockers, statins; good

Het

Thrombus discovered 1 day after surgery for tibial fracture

Nagael et al (1990)

Hep co-factor II

14, F

DVT

Surgery, streptokinase; fair

Het

Recurrence after 2 months with PE

Ozkutlu et al (1993)

Protein C

4, F

None

Surgery; good

Hom

Father had also protein C deficiency

Letts R et al (1999)

Protein C

11, M

RA and DVT

Septic arthritis

Antibiotics, UH, warfarin; good

Het

Nair et al (2001)

Protein C

43, M

None

Surgery; good

Probably Het

Previous recurrent DV and PE

Matitian et al (2001)

Protein C

2, F

None

Surgery, warfarin; good

Het

Brother with protein C deficiency but no cardiac thrombus

Saleh (2002)

Protein C

17, M

RA and LA

None

UH, warfarin; good

Het

Keyikoioglu et al (2005)

Protein C

35, M

RV and TV

None

Lysis; good

Het

Shindo et al (2006)

Protein C

30, M

None

Surgery; good

Het

Non-coronary cusp was involved

Dogan et al (2006)

Protein C

42, F

RA and RV

Oral contraceptives

Surgery, discontinuation of oral contraceptives, ASA; good

Het

Yokoyama et al (2009)

Protein C

76, M

Old age

Surgery; good

Het

Urgesi et al (2010)

Protein C

38, F

Ulcerative colitis

LMWH; good

Het

PE also present

Girolami et al (1994)

Protein S

31, M

None

UH, warfarin; fair

Het

Had peripheral embolism

Jobic et al (1999)

Protein S

77, F

Old age

Surgery; good

Het

Thrombosis caused repeated embolic MI

Flora et al (2004)

Protein S

28, F

Weak lupus anticoagulant

n.r.

Maldjian et al (2006)

Protein S

39, F

None

Poor

Het

Patient had also PE with residual pulmonary hypertension

Aysemur et al (2007)

Combined Prot C and Prot S

3, F

RV and LV

None

UH, warfarin; good

Compound het

Brother also affected but without cardiac thrombosis

**Table 2.** Reported Cases of Cardiac Thrombosis in Prothrombotic Polymorphisms
Authors	Defect	Age, gender	Site of thrombosis	Associated risk factors	Therapy and evolution	Genotype	Comments
RA, right atrium; AF, atrial fibrillation; MV, mitral valve; Hom, homozygous; Het, heterozygous; LA, left atrium; LMWH, low molecular weight heparin; LV, left ventricle; PV, pulmonary valve; RV, right ventricle; PE, pulmonary embolism; MTHFR, methyltetrahydrofolate reductase; UH, unfractioned heparin; ASA, acetyl salicylic acid.
Simioni et al (1997)	FV Leiden	55, F	RA	AF	Thrombectomy, MV substitution, warfrin; good	Hom
Kohlhese et al (1998)	FV Leiden	14, M	MV	Elevated apolipoprotein (a)	Thrombectomy, atrial valve substitution, orgaran; poor	Het	Family history positive for thrombosis. Patient had also embolectomy for left femoral artery
Scheer et al (2006)	FV Leiden	2, F	LA	Respiratory tract infection, broad QRS tachycardia	LMWH, beta-blockers; fair	Het	Patient had also systemic embolism and tachycardia recurrencies
Mizia-Stec et al (2006)	FV Leiden	26, M	LV + PV	Churg-Strauss vasculitis	Cortisone, warfarin; fair	Het
Ohlenfont et al (2007)	G20210A prothrombin	29, M	RV	None	Thrombectomy, warfarin; good	Hom	Post PE
Eweda et al (2010)	FV Leiden	25, F	RA	Compound Het for two MTHFR mutations (C677T and A1298C)	Thrombectomy; good	Het	Patient had also multiple PE
Yazicioglu et al (2011)	FV Leiden	32, F	LA	Invasive procedures for closure of ostium secundum	UH, tirofiban, warfarin; good	Hom	ASA and clopidogrel administered before invasive procedure

Table 2. Reported Cases of Cardiac Thrombosis in Prothrombotic Polymorphisms

Authors

Defect

Age, gender

Site of thrombosis

Associated risk factors

Therapy and evolution

Genotype

Comments

RA, right atrium; AF, atrial fibrillation; MV, mitral valve; Hom, homozygous; Het, heterozygous; LA, left atrium; LMWH, low molecular weight heparin; LV, left ventricle; PV, pulmonary valve; RV, right ventricle; PE, pulmonary embolism; MTHFR, methyltetrahydrofolate reductase; UH, unfractioned heparin; ASA, acetyl salicylic acid.

Simioni et al (1997)

FV Leiden

55, F

Thrombectomy, MV substitution, warfrin; good

Hom

Kohlhese et al (1998)

FV Leiden

14, M

Elevated apolipoprotein (a)

Thrombectomy, atrial valve substitution, orgaran; poor

Het

Family history positive for thrombosis. Patient had also embolectomy for left femoral artery

Scheer et al (2006)

FV Leiden

2, F

Respiratory tract infection, broad QRS tachycardia

LMWH, beta-blockers; fair

Het

Patient had also systemic embolism and tachycardia recurrencies

Mizia-Stec et al (2006)

FV Leiden

26, M

LV + PV

Churg-Strauss vasculitis

Cortisone, warfarin; fair

Het

Ohlenfont et al (2007)

G20210A prothrombin

29, M

None

Thrombectomy, warfarin; good

Hom

Post PE

Eweda et al (2010)

FV Leiden

25, F

Compound Het for two MTHFR mutations (C677T and A1298C)

Thrombectomy; good

Het

Patient had also multiple PE

Yazicioglu et al (2011)

FV Leiden

32, F

Invasive procedures for closure of ostium secundum

UH, tirofiban, warfarin; good

Hom

ASA and clopidogrel administered before invasive procedure

**Table 3.** Approximate Prevalence of Prothrombotic Defects in the General Healthy Population, Reported Cases of Intracardiac Thrombosis in These Conditions and Estimated Overall Incidence
Defect	Approximate prevalence (%)	Reported cases of cardiac thrombosis	Estimated approximate total cases	Comments
n.a., not available.
AT deficiency	0.02	2	10,000
Protein C deficiency	0.3	11	3667
Protein S deficiency	1.6	6	375
Combined Prot C & Prot S	n.a.	1	n.a.
Heparin co-factor II	n.a.	1	n.a.
FV Leiden polymorphism	5	6	120	Figures are probably misleading due to limited search
Prothrombin G20210A polymorphism	3	1	33	Same as above

Table 3. Approximate Prevalence of Prothrombotic Defects in the General Healthy Population, Reported Cases of Intracardiac Thrombosis in These Conditions and Estimated Overall Incidence

Defect

Approximate prevalence (%)

Reported cases of cardiac thrombosis

Estimated approximate total cases

Comments

n.a., not available.

AT deficiency

0.02

10,000

Protein C deficiency

0.3

3667

Protein S deficiency

1.6

375

Combined Prot C & Prot S

n.a.

Heparin co-factor II

n.a.

FV Leiden polymorphism

120

Figures are probably misleading due to limited search

Prothrombin G20210A polymorphism

Same as above

**Table 4.** Main Causes Of Cardiac Thrombi
Cardiac conditions
Catheter associated
Atrial fibrillation
Cardiomyopathy (dilated, Tako-Tsubo)
Heart failure
Myocardial infarction
Endomyocardial fibrosis
Heart valves defects
Behcet’s Disease
Cancer
Deep vein thrombosis (en route thrombi to the lungs)
Heparin-induced thrombocytopenia
Thrombophilic defects
Systemic lupus erytematosus
Amyloidosis

Table 4. Main Causes Of Cardiac Thrombi

Cardiac conditions

Catheter associated

Atrial fibrillation

Cardiomyopathy (dilated, Tako-Tsubo)

Heart failure

Myocardial infarction

Endomyocardial fibrosis

Heart valves defects

Extracardiac conditions

Behcet’s Disease

Cancer

Deep vein thrombosis (en route thrombi to the lungs)

Heparin-induced thrombocytopenia

Thrombophilic defects

Systemic lupus erytematosus

Amyloidosis