Familial Thoracic Aortic Aneurysms and
Dissections—Incidence, Modes of Inheritance, and
CARDIOVASCULAR
Phenotypic Patterns
Gonzalo Albornoz, MD, Michael A. Coady, MD, Michele Roberts, MD, PhD,
Ryan R. Davies, MD, Maryann Tranquilli, RN, John A. Rizzo, PhD, and
John A. Elefteriades, MD
Section of Cardiothoracic Surgery and Department of Genetics, Yale University School of Medicine, New Haven, Connecticut
Background. We examined the genetic nature and phe-
notypic features of thoracic aortic aneurysms (TAAs) and
dissections in a large cohort of patients.
Methods. Interviews were conducted with 520 patients
with TAAs and their pedigrees were compiled to identify
family members with aneurysms. Study patients were
divided into three groups: 101 non-Marfan patients, in 88
pedigrees, had a family pattern for TAA (familial group),
369 had no family pattern (sporadic group), and 50 had
Marfan syndrome (MFS). We determined incidence of
familial clustering, age at presentation, rate of aneurysm
growth, incidence of hypertension, correlation of aneu-
rysm sites among kindred, and pedigree inheritance
patterns.
Results. An inherited pattern for TAA was present in
21.5% of non-MFS patients. The predominant inheritance
pattern was autosomal dominant (76.9%), with varying
degrees of penetrance and expressivity. The familial
TAA group was significantly younger than the sporadic
group (p < 0.0001), but not as young as the MFS group (p
< 0.0001) (mean ages, 58.2 versus 65.7 versus 27.4 years).
O ur group [1] and others [2– 4] have previously re-
ported family patterns of transmission of thoracic
aortic aneurysm (TAA) and dissection. The present study
looked at a large number of family pedigrees of patients
with TAA or dissection seen at the Yale Center for
Thoracic Aortic Disease. Our goals were to confirm the
genetic nature of TAAs in a large population of affected
patients and families and to describe patterns of inheri-
tance and phenotypic features among familial clusters.
Rapid advances are being made in the understanding
of TAA disease at the molecular genetic level. In pedi-
grees with several generations of multiply affected family
members, chromosomal loci have been identified that
relate to the TAA phenotype by using the methods of
linkage analysis and gene sequencing. Thus far, these
Accepted for publication April 19, 2006.
Presented at the Poster Session of the Forty-second Annual Meeting of
The Society of Thoracic Surgeons, Chicago, IL, Jan 30 –Feb 1, 2006.
Address correspondence to Dr Elefteriades, 121 FMB, 333 Cedar St, New
Haven, CT 06510; e-mail: john.elefteriades@yale.edu.
© 2006 by The Society of Thoracic Surgeons
Published by Elsevier Inc
Among all 197 probands and kindred with aneurysm, 131
(66.5%) had TAA, 49 (24.9%) had abdominal aortic aneu-
rysm (AAA), and 17 (8.6%) had cerebral or other aneu-
rysms. Ascending aneurysm paired most commonly with
ascending, and descending with abdominal. Abdominal
aortic aneurysms (AAAs) and hypertension were more
often associated with descending than with ascending
TAAs (p < 0.001). Aortic growth rate was highest for the
familial group (0.21cm/y), intermediate for the sporadic
group (0.16 cm/y), and lowest for the Marfan group (0.1
cm/y; p < 0.01).
Conclusions. TAAs are frequently familial diseases.
The predominant mode of inheritance is autosomal dom-
inant. Familial TAAs have a relatively early age of onset.
Aneurysms in relatives may be seen in the thoracic aorta,
the abdominal aorta, or the cerebral circulation. Screen-
ing of first-order relatives of probands with TAA is
essential. Familial TAAs tend to grow at a higher rate,
exemplifying a more aggressive clinical entity.
(Ann Thorac Surg 2006;82:1400 – 6)
© 2006 by The Society of Thoracic Surgeons
loci have been mapped to the 5q13-14, 11q 23.2-24, and
3p24-25 chromosome sites [5–7]. Most recently, impor-
tant work by Pannu and colleagues [8] has localized the
mutation on the 3p24-25 chromosome to the transform-
ing growth factor-␤ receptor type II. As these advances in
molecular genetics continue, it remains important to
evaluate the clinical patterns of genetic transmission of
thoracic aortic aneurysm in large populations. That is the
goal of the present investigation.
Material and Methods
From nearly 3000 patients presenting since 1996 to the
Yale Center for Aortic Disease with TAAs or dissections
for operative or nonoperative management, 520 patients
were interviewed to obtain a thorough medical history
and a full pedigree analysis and to permit determination
of whether other family members had known TAAs.
Interviews were conducted in person or by phone with
prior consent. This study was approved by the Yale
University Human Investigation Committee.
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Ann Thorac Surg ALBORNOZ ET AL 1401
2006;82:1400 – 6 FAMILIAL THORACIC AORTIC ANEURYSMS

presentation. The rate of aneurysm growth was deter-

mined according to methods previously established at
this institution [10].
In 73 of the 88 familial pedigrees, a correlation was
possible between the site of the TAA in the proband,

CARDIOVASCULAR
either ascending or descending, and the site of the
arterial aneurysms among their kindred, including TAAs,
abdominal aortic aneurysms (AAAs), and cerebral arte-
rial aneurysms. In the remaining 15 pedigrees, a family
member was known to have had an aneurysm, but the
aneurysm site was unknown and could not be
determined.
The presence of antecedent hypertension was deter-
mined in 74 familial pedigrees, permitting analysis of the
difference in prevalence between ascending and de-
Fig 1. Flow diagram of pedigrees created.
scending TAA involvement by using the nondirectional
Yates ␹2 analysis.
The interviewees consented to be interviewed. Selec- Rates of aneurysm growth for 160 non-Marfan pro-
tion of patients for interview was essentially random and bands (31 familials and 129 sporadics) were calculated
not based on any clinical patient characteristics. Inter- from the change in the measured aneurysm size on
viewers tended to select for contact, from the overall lists successive imaging studies. The method for calculating
they were provided, patients recently seen rather than this rate of growth was published earlier [10]. The rate of
remotely seen, with regards to the time of interview. The growth of 39 MFS patients analyzed in our prior study is
labor-intensive interview process was conducted episod- included in the analysis. The mode of inheritance is
ically over nearly 10 years, however, so we did not described for the 88 familial pedigrees and confirmed by
anticipate significant selection bias, temporal or other. a clinical geneticist (MR).
Among all patients in all groups, 22% had presented to
Yale or to another institution with a complication (rup-
ture or dissection), and the rest were diagnosed after an
Results
imaging study. Incidence of Familial Thoracic Aortic Aneurysm
When a proband reported a positive family history for Familial clustering of TAA was evident in 101 (21.5%) of
aneurysm disease or sudden cardiac death, detailed the 470 non-MFS patients.
investigations were undertaken to determine if the sus-
pect family member(s) indeed harbored aneurysms. With Sex of Probands
few exceptions, the kindred’s having an aortic aneurysm Males predominated in the three groups. This was most
was confirmed either by direct interview of the kindred, pronounced in the familial group (2.5:1) and least in the
by obtaining a corroborating imaging study, or by veri- MFS group (1.6:1).
fying surgery for correction of an aortic aneurysm.
Merely anecdotal cases were excluded. Family screening Age at Presentation
was strongly recommended but was not performed as a A statistically significant difference was noted in the
formal part of this study. When family members were mean age at presentation among the three groups
screened at their local centers, the results were for-
warded to us by the proband and incorporated into our
spreadsheets.
No evidence of a named syndromic connective tissue
disorder was found in 470 of the 520 patients, and 50 were
classified as having Marfan syndrome (MFS) in accor-
dance with the Gent criteria [9]. The evaluation for
Marfan disease was done by the surgical team, with
formal genetic consultation only when the clinical picture
appeared ambiguous. Of the non-Marfan patients, 101
exhibited familial clustering of TAAs (familial group), and
369 had no family member with TAA (sporadic group). In
the familial group, 23 patients had a relative who was also
a proband in the group, resulting in 88 separate familial
pedigrees. See Figure 1 for a patient flow diagram.
For each group, the age at presentation, site of aneu-
rysm or dissection, and rate of aneurysm growth were
determined. The two-tailed, unpaired Student t test was
used to evaluate for difference in the mean age at Fig 2. Rate of aneurysm growth in different groups.
 1402 ALBORNOZ ET AL Ann Thorac Surg
FAMILIAL THORACIC AORTIC ANEURYSMS 2006;82:1400 – 6
CARDIOVASCULAR

Fig 3. Modes of inheritance. Round symbols represent females and square symbols males. Black symbols indicate individuals affected by aneu-
rysm, and open symbols indicate those free of aneurysm. A crossed line through a symbol indicates that the individual represented has died.
An arrow indicates the proband. Partial blackening indicates an aneurysm other than thoracic (ie, abdominal or cerebral). The alternate aneu-
rysms sites (abdominal, cerebral, other) are represented by blackening in the different corners of the box (right upper, right lower, left lower,
respectively). See the illustrated legend accompanying the illustrations.

studied. Age at presentation refers either to the age at
which a symptomatic patient presented with a compli-
cation or the age at which an asymptomatic patient had
an incidental finding of aneurysm on radiographic
imaging. The MFS patients were significantly younger
than the familial group (27.4 years versus 55.4 years, p
⬍ 0.0001), and the familial group was significantly
younger than the sporadic group (58.2 years versus 65.7
years; p ⬍ 0.0001).
Nature and Anatomic Location of Aneurysm Disease
For the 520 patients in the three study groups, the
ascending aorta was affected with an aneurysm or
dissection in 413 cases (79.4%) and the descending
aorta in 107 cases (20.6%). Arch aneurysms cases were
grouped with the portion of the aorta, ascending or
descending, most closely related anatomically to the
arch aneurysm.
For the familial group, 63 (79.7%) of 79 ascending
Ann Thorac Surg
2006;82:1400 – 6
Fig 4. Distribution of sites of arterial aneurysms and dissections in
kindred of familial probands. AAA ⫽ abdominal aortic aneurysm;
asc ⫽ ascending; desc ⫽ descending.
aortas affected had aneurysms and 16 (20.3%) had dissec-
tions. Of 22 descending aortas, an equal number (11,
50%) were affected with aneurysms as with dissections.
For the sporadic group, 235 (82.1%) of 287 ascending
aortas affected had aneurysms and 52 (17.9%) had dissec-
tions. Of 82 descending aortas affected, 43 (52.5%) had
aneurysms and 39 (47.5%) had dissections.
For the MFS group, 41 (87.2%) of 47 ascending aortas
affected had aneurysms and 6 (12.8%) had dissections. Of
3 descending aortas, all were affected with dissections.
For the three groups, the presented data reveals that
the proportion of dissections in the descending aorta was
significantly greater than in the ascending (familial, p ⬍
0.05; sporadic, p ⬍ 0.0005; MFS, p ⬍ 0.005)
Rate of Aneurysm Growth
Growth rate determinations were done using two mea-
surements for each patient, determined a mean of 21
months apart. The weighted average rate of growth was
0.21 cm/y for 31 familial probands, 0.16 cm/y for 129
sporadics, and 0.10 cm/y for 39 Marfan patients (p ⬍ 0.01;
Fig 2).
Mode of Inheritance
Of 88 familial pedigrees evaluated, 70 (79.5%) had an
inheritance pattern that was most consistent with a
dominant mode of inheritance: 30 were autosomal dom-
inant, 24 were autosomal dominant versus X-linked dom-
inant, 15 were autosomal dominant with decreased pen-
etrance, and there was one pair of monozygotic probands
with a likely autosomal dominant spontaneous mutation.
A nondominant pattern could not be excluded in several
of these pedigrees (see Fig 3). The other 18 pedigrees
(20.5%) were most consistent with a recessive inheritance
pattern, eight being autosomal recessive versus X-linked
recessive, five autosomal recessive, and five autosomal
recessive versus autosomal dominant with decreased
penetrance.
ALBORNOZ ET AL 1403
FAMILIAL THORACIC AORTIC ANEURYSMS
Distribution of Kindred Aneurysms
Among the 88 familial pedigrees, the site of the aneurysm
in the family members was known for 73 probands (Fig
4). These 73 probands had 124 kindred with an arterial
CARDIOVASCULAR
aneurysm. Fifty-eight of these had a TAA, yielding 131
family members with TAA, 105 with ascending, and 26
with descending aneurysms. Sixty-six family members
had aneurysms at sites other than the thorax, yielding a
total of 197 probands and kindred with aneurysm in
some site; of these, 131 (66.5%) had TAA, 49 (24.9%) had
AAA, and 17 (8.6%) had cerebral or other arterial
aneurysms.
To determine the nature and prevalence of other
arterial aneurysms in kindred of family members with
TAA, we generated all possible pairings of aneurysm
sites for the 131 family members with TAA and their 66
kindred with other arterial aneurysms. This resulted in
193 proband-kindred pairs, 148 pairs involving family
members with ascending TAAs and 45 involving family
members with descending TAAs.
It was seen that the pairing of ascending TAAs with
ascending TAAs, 90 (60.8%) of 148 pairs, was signifi-
cantly more common than for descending TAAs with
ascending TAAs, 7 (15.6%) of 45 pairs (p ⬍ 0.0001).
Similarly, it was seen that the pairing of descending
TAAs with AAAs, 27 (60.0%) of 45 paired sites, was
significantly more common than for ascending TAAs
and AAAs, 34 (30.0%) of 148 paired sites (p ⬍ 0.0001),
using the nondirectional Yates ␹2 method. As can be
seen in Figure 4, the kindred could harbor the aneu-
rysm in any site, but ascending paired most commonly
with ascending and descending paired most commonly
with AAA.
Hypertension in Ascending Versus Descending
Thoracic Aortic Aneurysms
Of 74 probands and kindred in the familial group for
whom a history of antecedent hypertension could be
ascertained, a statistically higher prevalence was found
Figure 5. Hypertension (htn) in ascending (asc) versus descending
(desc) familial probands.
 1404 ALBORNOZ ET AL Ann Thorac Surg
FAMILIAL THORACIC AORTIC ANEURYSMS 2006;82:1400 – 6

among patients with descending TAAs, 13 (86.7%) of
15, compared with patients with ascending TAAs, 15
(25.4%) of 59 (p ⬍ 0.001), using the nondirectional Yates
␹2 method (Fig 5).
CARDIOVASCULAR
first-order family members of patients with aneurysms of
any type should be screened for TAA and AAA. We use
cardiac echocardiography for younger individuals (age ⬍
40) and echocardiography plus computed tomography
(CT) scans or magnetic resonance imaging (MRI) of the

chest and abdomen for the older group. We screen

Comment siblings, parents, grandparents, children, and grandchil-
The data in this study has remained remarkably constant dren, as well as more distant relatives in highly affected
as our series of analyzed patients has grown and permits families.
the following conclusions: Additional commentary is warranted on several of
these observations.
1. TAAs and dissections are frequently familial diseases.
The predominant mode of inheritance for our TAA
More than 20% of patients with a TAA and no
pedigrees is autosomal dominant, an inheritance mode
known vascular connective tissue syndrome have at
that is best explained by the transmission of a gene(s)
least one first-order family member with an arterial
encoding for a protein that affects the vascular wall
aneurysm. Our data strongly support the growing
integrity. We also found reduced penetrance and vari-
appreciation of a genetic role in the causation of
able expressivity as well as multiple anatomic locations of
TAA. This concept is also emerging strongly in the
familial arterial aneurysms, consistent with other studies
literature from other investigators [5– 8, 11–18], and
of the inheritance pattern of TAAs [18]. The decreased
especially in the pioneering work of Milewicz and
penetrance, however, gives rise to the possibility of
colleagues and [13].
noninclusion of affected family members owing to a lack
2. The predominant mode of inheritance of TAA is autoso-
of overt clinical signs.
mal dominant, with varying degrees of penetrance and
Indeed, it is quite likely that the true rate of inheri-
variable expressivity. Other forms of inheritance,
tance of TAA is even higher than this study indicates.
including recessive patterns, were also noted.
To be counted as affected in this study, a family
3. Relative to their sporadic TAA cohorts, familial TAA
member needed to have a known aneurysm. Many
patients tend to be younger at presentation than sporadic
family members of our probands may well have har-
aneurysm patients—suggesting a more aggressive clini-
bored an aneurysm but simply not have been diag-
cal entity.
nosed or aware. An additional cause for noninclusion
4. Relative to sporadic and Marfan TAA cohorts, familial
was the relatively advanced age of onset of aneurysm
TAAs grow at a higher rate–again suggesting a more
formation, so that younger patients harboring the
aggressive clinical entity and an added risk factor
preclinically overt TAA phenotype may have also been
for associated complications. The range of growth
underdiagnosed [18].
rates noted in this study is consistent with our prior
Our finding in this large series that more than 20% of
reports on our overall population of patients with
TAAs occur with familial clustering is a result that has
TAA and dissection. That TAAs in the familial
remained remarkably constant, because our series of
patients grew faster than even the Marfan patients
analyzed patients has increased and accords with re-
is consistent with one of our prior studies [19].
sults from other series. This statistic certainly under-
5. Patterns of aneurysm clustering between probands and
estimates the true prevalence of aneurysm disease in
their family members are apparent. Probands with
kindred, however, because many family members may
ascending TAAs were significantly more likely to
harbor unknown aneurysms. A limitation of this study
have kindred with ascending TAAs, whereas pro-
is that it is based on interviews and not on routine
bands with descending TAAs were significantly
radiographic screenings of family members. Another
more likely to have kindred with AAAs. This dis-
limitation is that only a fraction of all the patients in
parity in association of aneurysm sites suggests that
our database underwent the labor-intensive patient
descending TAAs and AAAs have clinical and pos-
and family interviews.
sibly pathophysiologic features in common and
We have a program currently underway for screen-
that these features differ from those of ascending
ing family members of probands with thoracic aortic
TAAs. This finding is supported in the literature
aneurysm by two-dimensional ultrasound scans of the
[20, 21].
thoracic and abdominal aortas. This study should ap-
5. Underlying hypertension frequently characterizes de-
proach the true incidence of familial inheritance of this
scending aneurysm patients and their kindred, but not
disease more closely and is essential for accurately
ascending. The significantly higher prevalence of
phenotyping affected family members for the purpose
hypertension in probands and kindred with de-
of linkage analysis. Simultaneously, we are performing
scending TAAs compared with those with ascend-
genome-wide screening of a large cohort of patients
ing TAAs suggests that these segments of the aorta
that may identify specific genetic mutations for this
may also differ regarding certain associated risk
known genetically heterogeneous disorder [22].
factors, with hypertension also being a known risk
Although there is much additional genetic clarifica-
factor for AAAs.
tion to be done, we believe the present study, with a
The thrust of this investigation argues strongly that all wealth of clinical information in a large cohort of
Ann Thorac Surg
2006;82:1400 – 6
patients, clearly confirms the genetic nature of thoracic
aortic aneurysm and dissection. We look forward to the
day when complete identification of errant genes has
been accomplished and specific blood tests can be
developed for clinical screening purposes.
References
1. Coady MA, Davies RR, Roberts M, et al. Familial patterns of
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2. Biddinger A, Rocklin M, Coselli J, Milewicz DM. Familial
thoracic aortic dilatations and dissections: a case control
study. J Vasc Surg 1997;25:506 –11.
3. Hasham SN, Lewin MR, Tran VT, et al. Nonsyndromic
genetic predisposition to aortic dissection: a newly recog-
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INVITED COMMENTARY
The study by Elefteriades and colleagues at Yale is yet
another in the series of seminal contributions his
group has made to the study of thoracic aortic disease
[1]. This study is particularly important because it
highlights the common occurrence of familial patterns
of inheritance in thoracic aortic aneurysms (TAA) and
dissections occurring in patients without defined ge-
netic syndromes as well as the nature and natural
history of these aneurysms. Although this concept is
not entirely new to this report, there have been re-
markably few previous studies documenting nonsyn-
dromic familial predisposition to thoracic aortic dissec-
tion and aortic aneurysm disease. In fact, one of the
earliest reports documenting a familial pattern of in-
heritance for TAA was also published by the Yale
group [2] in 1999. The findings of the current study
confirm and extend the preliminary conclusions of the
earlier study in a much larger cohort of patients. The
key findings of both articles are that approximately
20% of non-Marfan’s (MFS) syndrome patients with
TAA have an inherited pattern; the growth rate for
familial non-MFS patients is significantly greater than
© 2006 by The Society of Thoracic Surgeons
Published by Elsevier Inc
ALBORNOZ ET AL 1405
FAMILIAL THORACIC AORTIC ANEURYSMS
10. Rizzo JA, Coady MA, Elefteriades JA. Procedures for esti-
mating growth rates in thoracic aortic aneurysms. J Clin
Epidemiol 1998;51:747–54.
11. Francke U, Berg MA, Tynan K, et al. A Gly1127Ser mutation
in an EGF-like domain of the fibrillin-1 gene is a risk factor
for ascending aortic aneurysm and dissection. Am J Hum
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Genet 1995;56:1287–96.
12. Biddinger A, Rocklin M, Coselli J, et al. Familial thoracic
aortic dilatations and dissections: a case control study. J Vasc
Surg 1997;25:506 –11.
13. Milewicz DM, Chen H, Park ES, et al. Reduced penetrance
and variable expressivity of familial thoracic aortic aneu-
rysms/dissections. Am J Cardiol 1998;82:474 –9.
14. Muller BT, Modlich O, Prisack HB, et al. Gene expression
profiles in the acutely dissected human aorta. Eur J Vasc
Endovasc Surg 2002;24:356 – 64.
15. Jondeau G, Muti C, Boileau C. Aortic aneurysms excluding
Marfan’s syndrome. Arch Mal Coeur Vaiss 2003;96:1074 – 80.
16. Horike K, Kanoh M, Kurushima A, et al. Familial aortic
dissection; cases involving a father, mother, and son. Kyobu
Geka 2003;56:445–7.
17. Kuivaniemi H. Are there genes for aneurysm in the blue-
print of the human genome? Ann Vasc Surg 2004;18:2–3.
18. Hasham SN, Lewin MR, Tran VT, et al. Nonsyndromic
genetic predisposition to aortic dissection: a newly recog-
nized, diagnosable, and preventable occurrence in families.
Ann Emerg Med 2004;43:79 – 82.
19. Davies RR, Goldstein LJ, Coady MA, et al. Yearly rupture or
dissection rates for thoracic aortic aneurysms: simple pre-
diction based on size. Ann Thorac Surg 2002;73:17–28.
20. Coady MA, Rizzo JA, Goldstein LJ, Elefteriades JA. Natural
history, pathogenesis, and etiology of thoracic aortic aneu-
rysms and dissections. Cardiol Clin 1999;17:615–35;vii.
21. Absi TS, Sundt TM 3rd, Tung WS, et al. Altered patterns of
gene expression distinguishing ascending aortic aneurysms
from abdominal aortic aneurysms: complementary DNA
expression profiling in the molecular characterization of
aortic disease. J Thorac Cardiovasc Surg 2003;126:344 –57;
discussion 357.
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that for sporadic or MFS patients; and these aneurysms
occur at a younger age than sporadic aneurysms,
suggesting a more aggressive pathophysiology. The
authors also report that the most common pattern of
inheritance is autosomal dominant with a correlation
between ascending aneurysms in the patients (pro-
bands) and ascending aneurysms in the kindreds (fam-
ily members). Similarly, those with descending aneu-
rysms are more likely to have descending thoracic or
abdominal aortic aneurysms in family members, sug-
gesting disparate genetic bases for non-MFS familial
aneurysms in these two locations.
Although the familial occurrence of abdominal aortic
aneurysms was first described nearly 30 years ago [3],
the appreciation for the importance of familial inheri-
tance for thoracic aneurysms is quite recent. As the
authors of the current report discuss, the actual inci-
dence of familial TAA is likely to be higher than the
20% estimate due to variable penetrance, the large
number of asymptomatic aneurysms likely to be found
in kindreds and the relatively advanced age at presen-
tation. Thus, in contrast to MFS patients, many first-
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